{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q99259","secondaryAccessions":["Q49AK1","Q53TQ7","Q9BU91","Q9UHH4"],"uniProtkbId":"DCE1_HUMAN","entryAudit":{"firstPublicDate":"1996-02-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1996-02-01","entryVersion":223,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Glutamate decarboxylase 1"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10671565"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"}],"value":"4.1.1.15"}]},"alternativeNames":[{"fullName":{"value":"67 kDa glutamic acid decarboxylase"},"shortNames":[{"value":"GAD-67"}]},{"fullName":{"value":"Glutamate decarboxylase 67 kDa isoform"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:4092"}],"value":"GAD1"},"synonyms":[{"value":"GAD"},{"value":"GAD67"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10671565"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"}],"value":"Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10671565"}],"value":"Enzymatically inactive as glutamate decarboxylase"}],"commentType":"FUNCTION","molecule":"Isoform 3"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-glutamate + H(+) = 4-aminobutanoate + CO2","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:17785"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:16526"},{"database":"ChEBI","id":"CHEBI:29985"},{"database":"ChEBI","id":"CHEBI:59888"}],"ecNumber":"4.1.1.15","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10671565"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:17786"},"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"10671565"}]}]},{"commentType":"COFACTOR","cofactors":[{"name":"pyridoxal 5'-phosphate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:597326"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"}],"value":"Homodimer"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"Q6RW13","geneName":"AGTRAP","intActId":"EBI-741181"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"Q6RW13-2","geneName":"AGTRAP","intActId":"EBI-11522760"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"Q96DZ9","geneName":"CMTM5","intActId":"EBI-2548702"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"Q96DZ9-2","geneName":"CMTM5","intActId":"EBI-11522780"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"P46952","geneName":"HAAO","intActId":"EBI-743215"},"numberOfExperiments":8,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"Q969L2","geneName":"MAL2","intActId":"EBI-944295"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"P16333","geneName":"NCK1","intActId":"EBI-389883"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q99259","intActId":"EBI-743184"},"interactantTwo":{"uniProtKBAccession":"Q13188","geneName":"STK3","intActId":"EBI-992580"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"value":"GAD67"}],"isoformIds":["Q99259-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q99259-2"],"isoformSequenceStatus":"Not described"},{"name":{"value":"3"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10671565"}],"value":"GAD25"}],"isoformIds":["Q99259-3"],"sequenceIds":["VSP_009123","VSP_009124"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q99259-4"],"sequenceIds":["VSP_054473","VSP_054474"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10671565"}],"value":"Expressed in brain"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10671565"}],"value":"Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform 3"},{"commentType":"DISEASE","disease":{"diseaseId":"Developmental and epileptic encephalopathy 89","diseaseAccession":"DI-05990","acronym":"DEE89","description":"A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life.","diseaseCrossReference":{"database":"MIM","id":"619124"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32282878"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the group II decarboxylase family"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"Wikipedia","resourceUrl":"https://en.wikipedia.org/wiki/Glutamate_decarboxylase","ftp":false,"note":"Glutamate decarboxylase entry"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":594,"modifier":"EXACT"}},"description":"Glutamate decarboxylase 1","featureId":"PRO_0000146963"},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Binding site","location":{"start":{"value":190,"modifier":"EXACT"},"end":{"value":192,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:59888"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"2OKJ"}],"ligand":{"name":"4-aminobutanoate","id":"ChEBI:CHEBI:59888"}},{"type":"Binding site","location":{"start":{"value":567,"modifier":"EXACT"},"end":{"value":567,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:59888"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"2OKJ"}],"ligand":{"name":"4-aminobutanoate","id":"ChEBI:CHEBI:59888"}},{"type":"Modified residue","location":{"start":{"value":78,"modifier":"EXACT"},"end":{"value":78,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P48318"}]},{"type":"Modified residue","location":{"start":{"value":405,"modifier":"EXACT"},"end":{"value":405,"modifier":"EXACT"}},"description":"N6-(pyridoxal phosphate)lysine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17384644"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"2OKJ"}]},{"type":"Alternative sequence","location":{"start":{"value":214,"modifier":"EXACT"},"end":{"value":224,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10671565"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_009123","alternativeSequence":{"originalSequence":"FTYEIAPVFVL","alternativeSequences":["PSDMRECWLLR"]}},{"type":"Alternative sequence","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":594,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10671565"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_009124","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":374,"modifier":"EXACT"},"end":{"value":425,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_054473","alternativeSequence":{"originalSequence":"AAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKEKGILQ","alternativeSequences":["GFNFSQLANRIICLATELMTNKGCVTWHPNYSVNMHHGCLGRWAAHVQEAPP"]}},{"type":"Alternative sequence","location":{"start":{"value":426,"modifier":"EXACT"},"end":{"value":594,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_054474","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":12,"modifier":"EXACT"},"end":{"value":12,"modifier":"EXACT"}},"description":"in dbSNP:rs121918345","featureCrossReferences":[{"database":"dbSNP","id":"rs121918345"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15571623"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33634263"}],"featureId":"VAR_031021","alternativeSequence":{"originalSequence":"S","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":228,"modifier":"EXACT"},"end":{"value":228,"modifier":"EXACT"}},"description":"in dbSNP:rs45566933","featureCrossReferences":[{"database":"dbSNP","id":"rs45566933"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.9"}],"featureId":"VAR_018861","alternativeSequence":{"originalSequence":"I","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":232,"modifier":"EXACT"},"end":{"value":232,"modifier":"EXACT"}},"description":"in DEE89; uncertain significance; no effect on protein abundance; no effect on splicing","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32282878"}],"featureId":"VAR_085520","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":474,"modifier":"EXACT"},"end":{"value":474,"modifier":"EXACT"}},"description":"in dbSNP:rs769403","featureCrossReferences":[{"database":"dbSNP","id":"rs769403"}],"featureId":"VAR_011882","alternativeSequence":{"originalSequence":"V","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":509,"modifier":"EXACT"},"end":{"value":509,"modifier":"EXACT"}},"description":"in DEE89; dbSNP:rs1381723796","featureCrossReferences":[{"database":"dbSNP","id":"rs1381723796"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32282878"}],"featureId":"VAR_085521","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":531,"modifier":"EXACT"},"end":{"value":594,"modifier":"EXACT"}},"description":"in DEE89; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32282878"}],"featureId":"VAR_085522","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":532,"modifier":"EXACT"},"end":{"value":532,"modifier":"EXACT"}},"description":"in dbSNP:rs769402","featureCrossReferences":[{"database":"dbSNP","id":"rs769402"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.9"}],"featureId":"VAR_011883","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":565,"modifier":"EXACT"},"end":{"value":565,"modifier":"EXACT"}},"description":"in dbSNP:rs1049736","featureCrossReferences":[{"database":"dbSNP","id":"rs1049736"}],"featureId":"VAR_011884","alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":9,"modifier":"EXACT"},"end":{"value":9,"modifier":"EXACT"}},"description":"in Ref. 7; AAA35900","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{}},{"type":"Sequence conflict","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":17,"modifier":"EXACT"}},"description":"in Ref. 4; AAB59427/CAA80435","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"GA","alternativeSequences":["EP"]}},{"type":"Sequence conflict","location":{"start":{"value":17,"modifier":"EXACT"},"end":{"value":17,"modifier":"EXACT"}},"description":"in Ref. 7; AAA35900","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["Q"]}},{"type":"Sequence conflict","location":{"start":{"value":18,"modifier":"EXACT"},"end":{"value":18,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Sequence conflict","location":{"start":{"value":31,"modifier":"EXACT"},"end":{"value":31,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["N"]}},{"type":"Sequence conflict","location":{"start":{"value":68,"modifier":"EXACT"},"end":{"value":68,"modifier":"EXACT"}},"description":"in Ref. 2; AAA62368","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":116,"modifier":"EXACT"},"end":{"value":116,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":136,"modifier":"EXACT"},"end":{"value":136,"modifier":"EXACT"}},"description":"in Ref. 7; AAA35900","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":140,"modifier":"EXACT"},"end":{"value":140,"modifier":"EXACT"}},"description":"in Ref. 7; AAA35900","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":142,"modifier":"EXACT"},"end":{"value":142,"modifier":"EXACT"}},"description":"in Ref. 7; AAA35900","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":155,"modifier":"EXACT"},"end":{"value":155,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["T"]}},{"type":"Sequence conflict","location":{"start":{"value":206,"modifier":"EXACT"},"end":{"value":206,"modifier":"EXACT"}},"description":"in Ref. 4; AAB59427/CAA80435","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["N"]}},{"type":"Sequence conflict","location":{"start":{"value":302,"modifier":"EXACT"},"end":{"value":302,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["C"]}},{"type":"Sequence conflict","location":{"start":{"value":436,"modifier":"EXACT"},"end":{"value":436,"modifier":"EXACT"}},"description":"in Ref. 5; AAB26937","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":477,"modifier":"EXACT"},"end":{"value":477,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["G"]}},{"type":"Sequence conflict","location":{"start":{"value":492,"modifier":"EXACT"},"end":{"value":492,"modifier":"EXACT"}},"description":"in Ref. 6; AAB26938","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["G"]}},{"type":"Sequence conflict","location":{"start":{"value":512,"modifier":"EXACT"},"end":{"value":512,"modifier":"EXACT"}},"description":"in Ref. 5; AAB26937","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Turn","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":97,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2OKJ"}]},{"type":"Helix","location":{"start":{"value":100,"modifier":"EXACT"},"end":{"value":102,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":110,"modifier":"EXACT"},"end":{"value":131,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":144,"modifier":"EXACT"},"end":{"value":149,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":162,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":165,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":187,"modifier":"EXACT"},"end":{"value":192,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":197,"modifier":"EXACT"},"end":{"value":209,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":214,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2OKJ"}]},{"type":"Turn","location":{"start":{"value":216,"modifier":"EXACT"},"end":{"value":218,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":220,"modifier":"EXACT"},"end":{"value":237,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":241,"modifier":"EXACT"},"end":{"value":243,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":245,"modifier":"EXACT"},"end":{"value":251,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":252,"modifier":"EXACT"},"end":{"value":267,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":270,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":276,"modifier":"EXACT"},"end":{"value":278,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":282,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":293,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":305,"modifier":"EXACT"},"end":{"value":307,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":308,"modifier":"EXACT"},"end":{"value":311,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":321,"modifier":"EXACT"},"end":{"value":333,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":337,"modifier":"EXACT"},"end":{"value":346,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":348,"modifier":"EXACT"},"end":{"value":350,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":356,"modifier":"EXACT"},"end":{"value":366,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":369,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":382,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Turn","location":{"start":{"value":384,"modifier":"EXACT"},"end":{"value":386,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":387,"modifier":"EXACT"},"end":{"value":390,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":393,"modifier":"EXACT"},"end":{"value":395,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":397,"modifier":"EXACT"},"end":{"value":401,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":414,"modifier":"EXACT"},"end":{"value":420,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":423,"modifier":"EXACT"},"end":{"value":428,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Turn","location":{"start":{"value":433,"modifier":"EXACT"},"end":{"value":435,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":444,"modifier":"EXACT"},"end":{"value":446,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":449,"modifier":"EXACT"},"end":{"value":451,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":461,"modifier":"EXACT"},"end":{"value":495,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":500,"modifier":"EXACT"},"end":{"value":506,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":509,"modifier":"EXACT"},"end":{"value":511,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":513,"modifier":"EXACT"},"end":{"value":517,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":520,"modifier":"EXACT"},"end":{"value":522,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":529,"modifier":"EXACT"},"end":{"value":549,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":553,"modifier":"EXACT"},"end":{"value":559,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Beta strand","location":{"start":{"value":562,"modifier":"EXACT"},"end":{"value":568,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]},{"type":"Helix","location":{"start":{"value":577,"modifier":"EXACT"},"end":{"value":591,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"3VP6"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0210","category":"Molecular function","name":"Decarboxylase"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0887","category":"Disease","name":"Epilepsy"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0456","category":"Molecular function","name":"Lyase"},{"id":"KW-0530","category":"Biological process","name":"Neurotransmitter biosynthesis"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-0663","category":"Ligand","name":"Pyridoxal phosphate"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"1549570","citationType":"journal article","authors":["Bu D.-F.","Erlander M.G.","Hitz B.C.","Tillakaratne N.J.","Kaufman D.L.","Wagner-Mcpherson C.B.","Evans G.A.","Tobin A.J."],"citationCrossReferences":[{"database":"PubMed","id":"1549570"},{"database":"DOI","id":"10.1073/pnas.89.6.2115"}],"title":"Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene.","publicationDate":"1992","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"2115","lastPage":"2119","volume":"89"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"8088791","citationType":"journal article","authors":["Bu D.-F.","Tobin A.J."],"citationCrossReferences":[{"database":"PubMed","id":"8088791"},{"database":"DOI","id":"10.1006/geno.1994.1246"}],"title":"The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD.","publicationDate":"1994","journal":"Genomics","firstPage":"222","lastPage":"228","volume":"21"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"]},{"referenceNumber":3,"citation":{"id":"1683462","citationType":"journal article","authors":["Kelly C.D.","Carter N.D.","Johnstone A.P.","Nussey S.S."],"citationCrossReferences":[{"database":"PubMed","id":"1683462"},{"database":"DOI","id":"10.1016/0140-6736(91)92780-6"}],"title":"Cloning of large isoform of human brain glutamic acid decarboxylase.","publicationDate":"1991","journal":"Lancet","firstPage":"1468","lastPage":"1469","volume":"338"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"]},{"referenceNumber":4,"citation":{"id":"1339255","citationType":"journal article","authors":["Kelly C.D.","Edwards Y.","Johnstone A.P.","Harfst E.","Nogradi A.","Nussey S.S.","Povey S.","Carter N.D."],"citationCrossReferences":[{"database":"PubMed","id":"1339255"},{"database":"DOI","id":"10.1111/j.1469-1809.1992.tb01150.x"}],"title":"Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase.","publicationDate":"1992","journal":"Ann. Hum. Genet.","firstPage":"255","lastPage":"265","volume":"56"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"8507202","citationType":"journal article","authors":["Yamashita K.","Cram D.S.","Harrison L.C."],"citationCrossReferences":[{"database":"PubMed","id":"8507202"},{"database":"DOI","id":"10.1006/bbrc.1993.1564"}],"title":"Molecular cloning of full-length glutamic acid decarboxylase 67 from human pancreas and islets.","publicationDate":"1993","journal":"Biochem. Biophys. Res. Commun.","firstPage":"1347","lastPage":"1352","volume":"192"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"]},{"referenceNumber":6,"citation":{"id":"8507203","citationType":"journal article","authors":["Kawasaki E.","Moriuchi R.","Watanabe M.","Saitoh K.","Brunicardi F.C.","Watt P.C.","Yamaguchi T.","Mullen Y.","Akazawa S.","Miyamoto T."],"citationCrossReferences":[{"database":"PubMed","id":"8507203"},{"database":"DOI","id":"10.1006/bbrc.1993.1565"}],"title":"Cloning and expression of large isoform of glutamic acid decarboxylase from human pancreatic islet.","publicationDate":"1993","journal":"Biochem. Biophys. Res. Commun.","firstPage":"1353","lastPage":"1359","volume":"192"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Pancreatic islet","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"CI-EEDD94NG5JTAJ","citationType":"submission","authors":["Giorda R.","Peakman M.","Vergani D.","Trucco M."],"title":"Sequence of glutamic acid decarboxylase transcripts in human pancreatic islets and brain.","publicationDate":"MAR-1992","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]"]},{"referenceNumber":8,"citation":{"id":"10671565","citationType":"journal article","authors":["Chessler S.D.","Lernmark A."],"citationCrossReferences":[{"database":"PubMed","id":"10671565"},{"database":"DOI","id":"10.1074/jbc.275.7.5188"}],"title":"Alternative splicing of GAD67 results in the synthesis of a third form of glutamic-acid decarboxylase in human islets and other non-neural tissues.","publicationDate":"2000","journal":"J. Biol. Chem.","firstPage":"5188","lastPage":"5192","volume":"275"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3)","TISSUE SPECIFICITY (ISOFORM 3)","CATALYTIC ACTIVITY","FUNCTION"],"referenceComments":[{"value":"Pancreatic islet","type":"TISSUE"},{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":9,"citation":{"id":"CI-9GALB6QA9R6OH","citationType":"submission","authoringGroup":["NIEHS SNPs program"],"publicationDate":"JUL-2003","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]","VARIANTS LEU-228 AND GLN-532"]},{"referenceNumber":10,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":11,"citation":{"id":"CI-5GBDQ6B103N1E","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":12,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":13,"citation":{"id":"2039509","citationType":"journal article","authors":["Cram D.S.","Barnett L.D.","Joseph J.L.","Harrison L.C."],"citationCrossReferences":[{"database":"PubMed","id":"2039509"},{"database":"DOI","id":"10.1016/0006-291x(91)90418-7"}],"title":"Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets.","publicationDate":"1991","journal":"Biochem. Biophys. Res. Commun.","firstPage":"1239","lastPage":"1244","volume":"176"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 218-397"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":14,"citation":{"id":"1697032","citationType":"journal article","authors":["Persson H.","Pelto-Huikko M.","Metsis M.","Soeder O.","Brene S.","Skog S.","Hoekfelt T.","Ritzen E.M."],"citationCrossReferences":[{"database":"PubMed","id":"1697032"},{"database":"DOI","id":"10.1128/mcb.10.9.4701-4711.1990"}],"title":"Expression of the neurotransmitter-synthesizing enzyme glutamic acid decarboxylase in male germ cells.","publicationDate":"1990","journal":"Mol. Cell. Biol.","firstPage":"4701","lastPage":"4711","volume":"10"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] OF 527-594"],"referenceComments":[{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":15,"citation":{"id":"32282878","citationType":"journal article","authoringGroup":["EuroEpinomics-RES consortium AR working group"],"authors":["Chatron N.","Becker F.","Morsy H.","Schmidts M.","Hardies K.","Tuysuz B.","Roselli S.","Najafi M.","Alkaya D.U.","Ashrafzadeh F.","Nabil A.","Omar T.","Maroofian R.","Karimiani E.G.","Hussien H.","Kok F.","Ramos L.","Gunes N.","Bilguvar K.","Labalme A.","Alix E.","Sanlaville D.","de Bellesciz e J.","Poulat A.L.","Moslemi A.R.","Lerche H.","May P.","Lesca G.","Weckhuysen S.","Tajsharghi H."],"citationCrossReferences":[{"database":"PubMed","id":"32282878"},{"database":"DOI","id":"10.1093/brain/awaa085"}],"title":"Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.","publicationDate":"2020","journal":"Brain","firstPage":"1447","lastPage":"1461","volume":"143"},"referencePositions":["INVOLVEMENT IN DEE89","VARIANTS DEE89 LYS-232 DEL; LYS-509 AND 531-ARG--LEU-594 DEL","CHARACTERIZATION OF VARIANT DEE89 LYS-232 DEL"]},{"referenceNumber":16,"citation":{"id":"17384644","citationType":"journal article","authors":["Fenalti G.","Law R.H.P.","Buckle A.M.","Langendorf C.","Tuck K.","Rosado C.J.","Faux N.G.","Mahmood K.","Hampe C.S.","Banga J.P.","Wilce M.","Schmidberger J.","Rossjohn J.","El-Kabbani O.","Pike R.N.","Smith A.I.","Mackay I.R.","Rowley M.J.","Whisstock J.C."],"citationCrossReferences":[{"database":"PubMed","id":"17384644"},{"database":"DOI","id":"10.1038/nsmb1228"}],"title":"GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop.","publicationDate":"2007","journal":"Nat. Struct. Mol. Biol.","firstPage":"280","lastPage":"286","volume":"14"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 93-594 IN COMPLEX WITH SUBSTRATE ANALOG","SUBUNIT","COFACTOR","CATALYTIC ACTIVITY","FUNCTION"]},{"referenceNumber":17,"citation":{"id":"23126365","citationType":"journal article","authors":["Langendorf C.G.","Tuck K.L.","Key T.L.","Fenalti G.","Pike R.N.","Rosado C.J.","Wong A.S.","Buckle A.M.","Law R.H.","Whisstock J.C."],"citationCrossReferences":[{"database":"PubMed","id":"23126365"},{"database":"DOI","id":"10.1042/bsr20120111"}],"title":"Structural characterization of the mechanism through which human glutamic acid decarboxylase auto-activates.","publicationDate":"2013","journal":"Biosci. Rep.","firstPage":"137","lastPage":"144","volume":"33"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (2.10 ANGSTROMS) OF 90-594"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"3VP6"}]},{"referenceNumber":18,"citation":{"id":"15571623","citationType":"journal article","authors":["Lynex C.N.","Carr I.M.","Leek J.P.","Achuthan R.","Mitchell S.","Maher E.R.","Woods C.G.","Bonthon D.T.","Markham A.F."],"citationCrossReferences":[{"database":"PubMed","id":"15571623"},{"database":"DOI","id":"10.1186/1471-2377-4-20"}],"title":"Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.","publicationDate":"2004","journal":"BMC Neurol.","firstPage":"20","lastPage":"20","volume":"4"},"referencePositions":["VARIANT CYS-12"]},{"referenceNumber":19,"citation":{"id":"33634263","citationType":"journal article","authors":["Morgan N.V.","Yngvadottir B.","O'Driscoll M.","Clark G.R.","Walsh D.","Martin E.","Tee L.","Reid E.","Titheradge H.L.","Maher E.R."],"citationCrossReferences":[{"database":"PubMed","id":"33634263"},{"database":"DOI","id":"10.1093/braincomms/fcab002"}],"title":"Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.","publicationDate":"2021","journal":"Brain Commun.","firstPage":"fcab002","lastPage":"fcab002","volume":"3"},"referencePositions":["VARIANT CYS-12"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"M81883","properties":[{"key":"ProteinId","value":"AAA62368.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"L16888","properties":[{"key":"ProteinId","value":"AAB59427.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"Z22750","properties":[{"key":"ProteinId","value":"CAA80435.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"S61897","properties":[{"key":"ProteinId","value":"AAB26937.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"S61898","properties":[{"key":"ProteinId","value":"AAB26938.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M86522","properties":[{"key":"ProteinId","value":"AAA35900.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF178853","properties":[{"key":"ProteinId","value":"AAF18390.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY337516","properties":[{"key":"ProteinId","value":"AAP88035.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"AAY24237.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471058","properties":[{"key":"ProteinId","value":"EAX11228.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471058","properties":[{"key":"ProteinId","value":"EAX11229.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC002815","properties":[{"key":"ProteinId","value":"AAH02815.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC026349","properties":[{"key":"ProteinId","value":"AAH26349.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC036552","properties":[{"key":"ProteinId","value":"AAH36552.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M70434","properties":[{"key":"ProteinId","value":"AAA52512.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"M55574","properties":[{"key":"ProteinId","value":"AAA72938.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS2239.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q99259-1"},{"database":"CCDS","id":"CCDS2240.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q99259-3"},{"database":"PIR","id":"B41935","properties":[{"key":"EntryName","value":"B41935"}]},{"database":"PIR","id":"S48135","properties":[{"key":"EntryName","value":"S48135"}]},{"database":"PIR","id":"S51775","properties":[{"key":"EntryName","value":"S51775"}]},{"database":"PIR","id":"S51776","properties":[{"key":"EntryName","value":"S51776"}]},{"database":"RefSeq","id":"NP_000808.2","properties":[{"key":"NucleotideSequenceId","value":"NM_000817.3"}],"isoformId":"Q99259-1"},{"database":"RefSeq","id":"NP_001432592.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001445663.1"}],"isoformId":"Q99259-1"},{"database":"RefSeq","id":"NP_001432593.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001445664.1"}],"isoformId":"Q99259-1"},{"database":"RefSeq","id":"NP_001432597.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001445668.1"}],"isoformId":"Q99259-3"},{"database":"RefSeq","id":"NP_038473.2","properties":[{"key":"NucleotideSequenceId","value":"NM_013445.4"}],"isoformId":"Q99259-3"},{"database":"RefSeq","id":"XP_011509224.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011510922.1"}],"isoformId":"Q99259-1"},{"database":"RefSeq","id":"XP_016859247.1","properties":[{"key":"NucleotideSequenceId","value":"XM_017003758.3"}],"isoformId":"Q99259-3"},{"database":"RefSeq","id":"XP_054197264.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341289.1"}],"isoformId":"Q99259-1"},{"database":"RefSeq","id":"XP_054197268.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341293.1"}],"isoformId":"Q99259-3"},{"database":"PDB","id":"2OKJ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.30 A"},{"key":"Chains","value":"A/B=93-594"}]},{"database":"PDB","id":"3VP6","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.10 A"},{"key":"Chains","value":"A/B=90-594"}]},{"database":"PDBsum","id":"2OKJ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"3VP6","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"108845","properties":[{"key":"Interactions","value":"29"}]},{"database":"ComplexPortal","id":"CPX-3032","properties":[{"key":"EntryName","value":"Glutamate decarboxylase 1 complex"}]},{"database":"ComplexPortal","id":"CPX-3065","properties":[{"key":"EntryName","value":"Glutamate decarboxylase 1/2 complex"}]},{"database":"DIP","id":"DIP-29292N","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q99259","properties":[{"key":"Number of interactors","value":"662"}]},{"database":"IntAct","id":"Q99259","properties":[{"key":"Interactions","value":"12"}]},{"database":"MINT","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-GAD1","properties":[{"key":"Evidences","value":"13 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000350928","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL2614","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB00142","properties":[{"key":"GenericName","value":"Glutamic acid"}]},{"database":"DrugBank","id":"DB00114","properties":[{"key":"GenericName","value":"Pyridoxal phosphate"}]},{"database":"iPTMnet","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"GAD1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"1352213","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000350928","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"62052","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"78255","properties":[{"key":"Description","value":"-"}],"isoformId":"Q99259-1"},{"database":"ProteomicsDB","id":"78256","properties":[{"key":"Description","value":"-"}],"isoformId":"Q99259-3"},{"database":"ABCD","id":"Q99259","properties":[{"key":"antibodies","value":"3 sequenced antibodies"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"DNASU","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000344257.9","properties":[{"key":"ProteinId","value":"ENSP00000341167.5"},{"key":"GeneId","value":"ENSG00000128683.15"}],"isoformId":"Q99259-3"},{"database":"Ensembl","id":"ENST00000358196.8","properties":[{"key":"ProteinId","value":"ENSP00000350928.3"},{"key":"GeneId","value":"ENSG00000128683.15"}],"isoformId":"Q99259-1"},{"database":"Ensembl","id":"ENST00000375272.5","properties":[{"key":"ProteinId","value":"ENSP00000364421.1"},{"key":"GeneId","value":"ENSG00000128683.15"}],"isoformId":"Q99259-3"},{"database":"Ensembl","id":"ENST00000493875.5","properties":[{"key":"ProteinId","value":"ENSP00000434696.1"},{"key":"GeneId","value":"ENSG00000128683.15"}],"isoformId":"Q99259-4"},{"database":"Ensembl","id":"ENST00000625689.2","properties":[{"key":"ProteinId","value":"ENSP00000486612.1"},{"key":"GeneId","value":"ENSG00000128683.15"}],"isoformId":"Q99259-4"},{"database":"Ensembl","id":"ENST00000883273.1","properties":[{"key":"ProteinId","value":"ENSP00000553332.1"},{"key":"GeneId","value":"ENSG00000128683.15"}],"isoformId":"Q99259-1"},{"database":"GeneID","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:2571","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000358196.8","properties":[{"key":"ProteinId","value":"ENSP00000350928.3"},{"key":"RefSeqNucleotideId","value":"NM_000817.3"},{"key":"RefSeqProteinId","value":"NP_000808.2"}]},{"database":"UCSC","id":"uc002ugh.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q99259-1"},{"database":"AGR","id":"HGNC:4092","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA28507","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"GAD1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"HPA","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Group enriched (brain, parathyroid gland, retina)"}]},{"database":"MalaCards","id":"GAD1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"603513","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"605363","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"619124","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"210141","properties":[{"key":"Disease","value":"Inherited congenital spastic tetraplegia"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG0629","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_011856_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RHATYHA","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q99259","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"BioCyc","id":"MetaCyc:HS05215-MONOMER","properties":[{"key":"Description","value":"-"}]},{"database":"BRENDA","id":"4.1.1.15","properties":[{"key":"OrganismId","value":"2681"}]},{"database":"PathwayCommons","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-888568","properties":[{"key":"PathwayName","value":"GABA synthesis"}]},{"database":"Reactome","id":"R-HSA-888590","properties":[{"key":"PathwayName","value":"GABA synthesis, release, reuptake and degradation"}]},{"database":"Reactome","id":"R-HSA-9022927","properties":[{"key":"PathwayName","value":"MECP2 regulates transcription of genes involved in GABA signaling"}]},{"database":"SignaLink","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000128683","properties":[{"key":"NominatedTarget","value":"Agora Nominated Target for Alzheimer's Disease"}]},{"database":"BioGRID-ORCS","id":"2571","properties":[{"key":"hits","value":"7 hits in 1160 CRISPR screens"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q99259","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q99259","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"RNAct","id":"Q99259","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q99259","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0043679","properties":[{"key":"GoTerm","value":"C:axon terminus"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005938","properties":[{"key":"GoTerm","value":"C:cell cortex"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0061202","properties":[{"key":"GoTerm","value":"C:clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0098982","properties":[{"key":"GoTerm","value":"C:GABA-ergic synapse"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0060077","properties":[{"key":"GoTerm","value":"C:inhibitory synapse"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0048471","properties":[{"key":"GoTerm","value":"C:perinuclear region of cytoplasm"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005886","properties":[{"key":"GoTerm","value":"C:plasma membrane"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0048786","properties":[{"key":"GoTerm","value":"C:presynaptic active zone"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0012506","properties":[{"key":"GoTerm","value":"C:vesicle membrane"},{"key":"GoEvidenceType","value":"NAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10671565"}]},{"database":"GO","id":"GO:0004351","properties":[{"key":"GoTerm","value":"F:glutamate decarboxylase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"10671565"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17384644"}]},{"database":"GO","id":"GO:0042802","properties":[{"key":"GoTerm","value":"F:identical protein binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17384644"}]},{"database":"GO","id":"GO:0030170","properties":[{"key":"GoTerm","value":"F:pyridoxal phosphate binding"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0007268","properties":[{"key":"GoTerm","value":"P:chemical synaptic transmission"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"8954991"}]},{"database":"GO","id":"GO:0009449","properties":[{"key":"GoTerm","value":"P:GABA biosynthetic process"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006540","properties":[{"key":"GoTerm","value":"P:GABA shunt"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17384644"}]},{"database":"GO","id":"GO:0006538","properties":[{"key":"GoTerm","value":"P:L-glutamate catabolic process"},{"key":"GoEvidenceType","value":"TAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"10671565"}]},{"database":"CDD","id":"cd06450","properties":[{"key":"EntryName","value":"DOPA_deC_like"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.90.1150.170:FF:000003","properties":[{"key":"EntryName","value":"Glutamate decarboxylase 1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.640.10:FF:000016","properties":[{"key":"EntryName","value":"Glutamate decarboxylase like 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.90.1150.170","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.640.10","properties":[{"key":"EntryName","value":"Type I PLP-dependent aspartate aminotransferase-like (Major domain)"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR002129","properties":[{"key":"EntryName","value":"PyrdxlP-dep_de-COase"}]},{"database":"InterPro","id":"IPR015424","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase"}]},{"database":"InterPro","id":"IPR015421","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase_major"}]},{"database":"InterPro","id":"IPR021115","properties":[{"key":"EntryName","value":"Pyridoxal-P_BS"}]},{"database":"PANTHER","id":"PTHR45677:SF5","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE 1"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR45677","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00282","properties":[{"key":"EntryName","value":"Pyridoxal_deC"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53383","properties":[{"key":"EntryName","value":"PLP-dependent transferases"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00392","properties":[{"key":"EntryName","value":"DDC_GAD_HDC_YDC"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAALGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL","length":594,"molWeight":66897,"crc64":"6D761C471C81FDAE","md5":"1859292071BF6A14D9F564A9F39571DC"},"extraAttributes":{"countByCommentType":{"FUNCTION":2,"CATALYTIC ACTIVITY":1,"COFACTOR":1,"SUBUNIT":1,"INTERACTION":8,"ALTERNATIVE PRODUCTS":4,"TISSUE SPECIFICITY":2,"DISEASE":1,"SIMILARITY":1,"WEB RESOURCE":1},"countByFeatureType":{"Chain":1,"Region":1,"Compositional bias":1,"Binding site":2,"Modified residue":2,"Alternative sequence":4,"Natural variant":8,"Sequence conflict":17,"Turn":4,"Helix":24,"Beta strand":16},"uniParcId":"UPI000002D729"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A0S2Z3V5","uniProtkbId":"A0A0S2Z3V5_HUMAN","entryAudit":{"firstPublicDate":"2016-02-17","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2016-02-17","entryVersion":57,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33544.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"2: Evidence at transcript level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00040578"}],"value":"Glutamate decarboxylase 1"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012421"}],"value":"4.1.1.15"}]},"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33544.1"}],"value":"GAD1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00037700"}],"value":"Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-glutamate + H(+) = 4-aminobutanoate + CO2","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:17785"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:16526"},{"database":"ChEBI","id":"CHEBI:29985"},{"database":"ChEBI","id":"CHEBI:59888"}],"ecNumber":"4.1.1.15","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00047724"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:17786"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00047724"}]}]},{"commentType":"COFACTOR","cofactors":[{"name":"pyridoxal 5'-phosphate","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00001933"},{"evidenceCode":"ECO:0000256","source":"PIRSR","id":"PIRSR602129-50"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU000382"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:597326"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00011738"}],"value":"Homodimer"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009533"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU000382"}],"value":"Belongs to the group II decarboxylase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":517,"modifier":"EXACT"}},"description":"Pyridoxal phosphate-dependent decarboxylase major","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF00282"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":405,"modifier":"EXACT"},"end":{"value":405,"modifier":"EXACT"}},"description":"N6-(pyridoxal phosphate)lysine","evidences":[{"evidenceCode":"ECO:0000256","source":"PIRSR","id":"PIRSR602129-50"}]},{"type":"Non-terminal residue","location":{"start":{"value":594,"modifier":"EXACT"},"end":{"value":594,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33544.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022793"}],"id":"KW-0210","category":"Molecular function","name":"Decarboxylase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023239"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU000382"}],"id":"KW-0456","category":"Molecular function","name":"Lyase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022979"}],"id":"KW-0530","category":"Biological process","name":"Neurotransmitter biosynthesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022898"},{"evidenceCode":"ECO:0000256","source":"PIRSR","id":"PIRSR602129-50"}],"id":"KW-0663","category":"Ligand","name":"Pyridoxal phosphate"}],"references":[{"referenceNumber":1,"citation":{"id":"26871637","citationType":"journal article","authors":["Yang X.","Coulombe-Huntington J.","Kang S.","Sheynkman G.M.","Hao T.","Richardson A.","Sun S.","Yang F.","Shen Y.A.","Murray R.","Spirohn K.","Begg B.E.","Duran-Frigola M.","MacWilliams A.","Pevzner S.J.","Zhong Q.","Trigg S.A.","Tam S.","Ghamsari L.","Sahni N.","Yi S.","Rodriguez M.D.","Balcha D.","Tan G.","Costanzo M.","Andrews B.","Boone C.","Zhou X.J.","Salehi-Ashtiani K.","Charloteaux B.","Chen A.","Calderwood M.A.","Aloy P.","Roth F.P.","Hill D.E.","Iakoucheva L.M.","Xia Y.","Vidal M."],"citationCrossReferences":[{"database":"PubMed","id":"26871637"},{"database":"DOI","id":"10.1016/j.cell.2016.01.029"}],"title":"Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.","publicationDate":"2016","journal":"Cell","firstPage":"805","lastPage":"817","volume":"164"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33544.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"KU178086","properties":[{"key":"ProteinId","value":"ALQ33544.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"RefSeq","id":"NP_000808.2","properties":[{"key":"NucleotideSequenceId","value":"NM_000817.3"}]},{"database":"RefSeq","id":"NP_001432592.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001445663.1"}]},{"database":"RefSeq","id":"NP_001432593.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001445664.1"}]},{"database":"RefSeq","id":"XP_011509224.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011510922.1"}]},{"database":"RefSeq","id":"XP_054197264.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341289.1"}]},{"database":"AlphaFoldDB","id":"A0A0S2Z3V5","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"A0A0S2Z3V5","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"DNASU","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"GeneID","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:2571","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RHATYHA","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PhylomeDB","id":"A0A0S2Z3V5","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID-ORCS","id":"2571","properties":[{"key":"hits","value":"7 hits in 1160 CRISPR screens"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"ExpressionAtlas","id":"A0A0S2Z3V5","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0043679","properties":[{"key":"GoTerm","value":"C:axon terminus"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005938","properties":[{"key":"GoTerm","value":"C:cell cortex"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0098982","properties":[{"key":"GoTerm","value":"C:GABA-ergic synapse"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0060077","properties":[{"key":"GoTerm","value":"C:inhibitory synapse"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0048471","properties":[{"key":"GoTerm","value":"C:perinuclear region of cytoplasm"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0048786","properties":[{"key":"GoTerm","value":"C:presynaptic active zone"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0004351","properties":[{"key":"GoTerm","value":"F:glutamate decarboxylase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0030170","properties":[{"key":"GoTerm","value":"F:pyridoxal phosphate binding"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0009449","properties":[{"key":"GoTerm","value":"P:GABA biosynthetic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"GO","id":"GO:0006540","properties":[{"key":"GoTerm","value":"P:GABA shunt"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"CDD","id":"cd06450","properties":[{"key":"EntryName","value":"DOPA_deC_like"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.90.1150.170:FF:000003","properties":[{"key":"EntryName","value":"Glutamate decarboxylase 1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.640.10:FF:000016","properties":[{"key":"EntryName","value":"Glutamate decarboxylase like 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.90.1150.170","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.640.10","properties":[{"key":"EntryName","value":"Type I PLP-dependent aspartate aminotransferase-like (Major domain)"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR002129","properties":[{"key":"EntryName","value":"PyrdxlP-dep_de-COase"}]},{"database":"InterPro","id":"IPR015424","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase"}]},{"database":"InterPro","id":"IPR015421","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase_major"}]},{"database":"InterPro","id":"IPR021115","properties":[{"key":"EntryName","value":"Pyridoxal-P_BS"}]},{"database":"PANTHER","id":"PTHR45677:SF5","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE 1"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR45677","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00282","properties":[{"key":"EntryName","value":"Pyridoxal_deC"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53383","properties":[{"key":"EntryName","value":"PLP-dependent transferases"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00392","properties":[{"key":"EntryName","value":"DDC_GAD_HDC_YDC"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAALGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL","length":594,"molWeight":66897,"crc64":"6D761C471C81FDAE","md5":"1859292071BF6A14D9F564A9F39571DC"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"COFACTOR":1,"SUBUNIT":1,"SIMILARITY":1},"countByFeatureType":{"Domain":1,"Region":1,"Compositional bias":1,"Modified residue":1,"Non-terminal residue":1},"uniParcId":"UPI000002D729"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"Q8IVA8","uniProtkbId":"Q8IVA8_HUMAN","entryAudit":{"firstPublicDate":"2003-03-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2003-03-01","entryVersion":126,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAH37780.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00040578"}],"value":"Glutamate decarboxylase 1"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00012421"}],"value":"4.1.1.15"}]}},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAH37780.1"}],"value":"GAD1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00037700"}],"value":"Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-glutamate + H(+) = 4-aminobutanoate + CO2","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:17785"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:16526"},{"database":"ChEBI","id":"CHEBI:29985"},{"database":"ChEBI","id":"CHEBI:59888"}],"ecNumber":"4.1.1.15","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00047724"}]},"physiologicalReactions":[{"directionType":"left-to-right","reactionCrossReference":{"database":"Rhea","id":"RHEA:17786"},"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00047724"}]}]},{"commentType":"COFACTOR","cofactors":[{"name":"pyridoxal 5'-phosphate","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00001933"},{"evidenceCode":"ECO:0000256","source":"PIRSR","id":"PIRSR602129-50"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU000382"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:597326"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00011738"}],"value":"Homodimer"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8IVA8","intActId":"EBI-10209663"},"interactantTwo":{"uniProtKBAccession":"Q6RW13","geneName":"AGTRAP","intActId":"EBI-741181"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IVA8","intActId":"EBI-10209663"},"interactantTwo":{"uniProtKBAccession":"Q96DZ9","geneName":"CMTM5","intActId":"EBI-2548702"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IVA8","intActId":"EBI-10209663"},"interactantTwo":{"uniProtKBAccession":"P46952","geneName":"HAAO","intActId":"EBI-743215"},"numberOfExperiments":3,"organismDiffer":false}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009533"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU000382"}],"value":"Belongs to the group II decarboxylase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":517,"modifier":"EXACT"}},"description":"Pyridoxal phosphate-dependent decarboxylase major","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF00282"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":405,"modifier":"EXACT"},"end":{"value":405,"modifier":"EXACT"}},"description":"N6-(pyridoxal phosphate)lysine","evidences":[{"evidenceCode":"ECO:0000256","source":"PIRSR","id":"PIRSR602129-50"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022793"}],"id":"KW-0210","category":"Molecular function","name":"Decarboxylase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023239"},{"evidenceCode":"ECO:0000256","source":"RuleBase","id":"RU000382"}],"id":"KW-0456","category":"Molecular function","name":"Lyase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022979"}],"id":"KW-0530","category":"Biological process","name":"Neurotransmitter biosynthesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022898"},{"evidenceCode":"ECO:0000256","source":"PIRSR","id":"PIRSR602129-50"}],"id":"KW-0663","category":"Ligand","name":"Pyridoxal phosphate"}],"references":[{"referenceNumber":1,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"authors":["Gerhard D.S.","Wagner L.","Feingold E.A.","Shenmen C.M.","Grouse L.H.","Schuler G.","Klein S.L.","Old S.","Rasooly R.","Good P.","Guyer M.","Peck A.M.","Derge J.G.","Lipman D.","Collins F.S.","Jang W.","Sherry S.","Feolo M.","Misquitta L.","Lee E.","Rotmistrovsky K.","Greenhut S.F.","Schaefer C.F.","Buetow K.","Bonner T.I.","Haussler D.","Kent J.","Kiekhaus M.","Furey T.","Brent M.","Prange C.","Schreiber K.","Shapiro N.","Bhat N.K.","Hopkins R.F.","Hsie F.","Driscoll T.","Soares M.B.","Casavant T.L.","Scheetz T.E.","Brown-stein M.J.","Usdin T.B.","Toshiyuki S.","Carninci P.","Piao Y.","Dudekula D.B.","Ko M.S.","Kawakami K.","Suzuki Y.","Sugano S.","Gruber C.E.","Smith M.R.","Simmons B.","Moore T.","Waterman R.","Johnson S.L.","Ruan Y.","Wei C.L.","Mathavan S.","Gunaratne P.H.","Wu J.","Garcia A.M.","Hulyk S.W.","Fuh E.","Yuan Y.","Sneed A.","Kowis C.","Hodgson A.","Muzny D.M.","McPherson J.","Gibbs R.A.","Fahey J.","Helton E.","Ketteman M.","Madan A.","Rodrigues S.","Sanchez A.","Whiting M.","Madari A.","Young A.C.","Wetherby K.D.","Granite S.J.","Kwong P.N.","Brinkley C.P.","Pearson R.L.","Bouffard G.G.","Blakesly R.W.","Green E.D.","Dickson M.C.","Rodriguez A.C.","Grimwood J.","Schmutz J.","Myers R.M.","Butterfield Y.S.","Griffith M.","Griffith O.L.","Krzywinski M.I.","Liao N.","Morin R.","Morrin R.","Palmquist D.","Petrescu A.S.","Skalska U.","Smailus D.E.","Stott J.M.","Schnerch A.","Schein J.E.","Jones S.J.","Holt R.A.","Baross A.","Marra M.A.","Clifton S.","Makowski K.A.","Bosak S.","Malek J."],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAH37780.1"}],"value":"Brain","type":"TISSUE"}],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"AAH37780.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"BC037780","properties":[{"key":"ProteinId","value":"AAH37780.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"RefSeq","id":"NP_000808.2","properties":[{"key":"NucleotideSequenceId","value":"NM_000817.3"}]},{"database":"AlphaFoldDB","id":"Q8IVA8","properties":[{"key":"Description","value":"-"}]},{"database":"IntAct","id":"Q8IVA8","properties":[{"key":"Interactions","value":"3"}]},{"database":"PeptideAtlas","id":"Q8IVA8","properties":[{"key":"Description","value":"-"}]},{"database":"DNASU","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"GeneID","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:2571","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA28507","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"2571","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID-ORCS","id":"2571","properties":[{"key":"hits","value":"7 hits in 1160 CRISPR screens"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GO","id":"GO:0004351","properties":[{"key":"GoTerm","value":"F:glutamate decarboxylase activity"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0030170","properties":[{"key":"GoTerm","value":"F:pyridoxal phosphate binding"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0009449","properties":[{"key":"GoTerm","value":"P:GABA biosynthetic process"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"CDD","id":"cd06450","properties":[{"key":"EntryName","value":"DOPA_deC_like"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.90.1150.170:FF:000003","properties":[{"key":"EntryName","value":"Glutamate decarboxylase 1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.640.10:FF:000016","properties":[{"key":"EntryName","value":"Glutamate decarboxylase like 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.90.1150.170","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.640.10","properties":[{"key":"EntryName","value":"Type I PLP-dependent aspartate aminotransferase-like (Major domain)"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR002129","properties":[{"key":"EntryName","value":"PyrdxlP-dep_de-COase"}]},{"database":"InterPro","id":"IPR015424","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase"}]},{"database":"InterPro","id":"IPR015421","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase_major"}]},{"database":"InterPro","id":"IPR021115","properties":[{"key":"EntryName","value":"Pyridoxal-P_BS"}]},{"database":"PANTHER","id":"PTHR45677:SF5","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE 1"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR45677","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00282","properties":[{"key":"EntryName","value":"Pyridoxal_deC"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53383","properties":[{"key":"EntryName","value":"PLP-dependent transferases"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00392","properties":[{"key":"EntryName","value":"DDC_GAD_HDC_YDC"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSRYSIKKAGAALGFGTDNVILIKCNERGEIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL","length":594,"molWeight":66917,"crc64":"580F11F932F8B1F3","md5":"EF47479EF45338ACB643B7995E1673E5"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"COFACTOR":1,"SUBUNIT":1,"INTERACTION":3,"SIMILARITY":1},"countByFeatureType":{"Domain":1,"Region":1,"Compositional bias":1,"Modified residue":1},"uniParcId":"UPI000007466A"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"F8WD43","uniProtkbId":"F8WD43_HUMAN","entryAudit":{"firstPublicDate":"2011-09-21","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2011-09-21","entryVersion":72,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"}],"value":"Glutamate decarboxylase 1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"}],"value":"GAD1"}}],"comments":[{"commentType":"COFACTOR","cofactors":[{"name":"pyridoxal 5'-phosphate","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00001933"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:597326"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00011738"}],"value":"Homodimer"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00009533"}],"value":"Belongs to the group II decarboxylase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":213,"modifier":"EXACT"}},"description":"Pyridoxal phosphate-dependent decarboxylase major","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF00282"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022793"}],"id":"KW-0210","category":"Molecular function","name":"Decarboxylase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022793"}],"id":"KW-0456","category":"Molecular function","name":"Lyase"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"F8WD43"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"F8WD43"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022898"}],"id":"KW-0663","category":"Ligand","name":"Pyridoxal phosphate"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000403849.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"F8WD43","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"F8WD43","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"F8WD43","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"31370","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000414527.6","properties":[{"key":"ProteinId","value":"ENSP00000403849.1"},{"key":"GeneId","value":"ENSG00000128683.15"}]},{"database":"UCSC","id":"uc061pnp.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"F8WD43","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0016830","properties":[{"key":"GoTerm","value":"F:carbon-carbon lyase activity"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"GO","id":"GO:0030170","properties":[{"key":"GoTerm","value":"F:pyridoxal phosphate binding"},{"key":"GoEvidenceType","value":"IEA:InterPro"}]},{"database":"FunFam","id":"3.90.1150.170:FF:000003","properties":[{"key":"EntryName","value":"Glutamate decarboxylase 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.90.1150.170","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR002129","properties":[{"key":"EntryName","value":"PyrdxlP-dep_de-COase"}]},{"database":"InterPro","id":"IPR015424","properties":[{"key":"EntryName","value":"PyrdxlP-dep_Trfase"}]},{"database":"PANTHER","id":"PTHR45677:SF5","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE 1"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR45677","properties":[{"key":"EntryName","value":"GLUTAMATE DECARBOXYLASE-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00282","properties":[{"key":"EntryName","value":"Pyridoxal_deC"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF53383","properties":[{"key":"EntryName","value":"PLP-dependent transferases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMGRHIQHVQHHGCSLQVLPGS","length":233,"molWeight":26064,"crc64":"B8E3F04082967DA8","md5":"99706EC9668B7BB6ED3833C2099CEADA"},"extraAttributes":{"countByCommentType":{"COFACTOR":1,"SUBUNIT":1,"SIMILARITY":1},"countByFeatureType":{"Domain":1,"Region":1,"Compositional bias":1},"uniParcId":"UPI00018817F0"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A0S2Z4D9","uniProtkbId":"A0A0S2Z4D9_HUMAN","entryAudit":{"firstPublicDate":"2016-02-17","lastAnnotationUpdateDate":"2025-04-02","lastSequenceUpdateDate":"2016-02-17","entryVersion":15,"sequenceVersion":1},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33545.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33545.1"}],"value":"Glutamate decarboxylase 1 isoform 2"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33545.1"}],"value":"GAD1"}}],"comments":[{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q6RW13-2","geneName":"AGTRAP","intActId":"EBI-11522760"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q96DZ9-2","geneName":"CMTM5","intActId":"EBI-11522780"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q15323","geneName":"KRT31","intActId":"EBI-948001"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q6A162","geneName":"KRT40","intActId":"EBI-10171697"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q9BYR7","geneName":"KRTAP3-2","intActId":"EBI-751260"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q969L2","geneName":"MAL2","intActId":"EBI-944295"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"P36406","geneName":"TRIM23","intActId":"EBI-740098"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"A0A0S2Z4D9","intActId":"EBI-16430771"},"interactantTwo":{"uniProtKBAccession":"Q15654","geneName":"TRIP6","intActId":"EBI-742327"},"numberOfExperiments":3,"organismDiffer":false}]}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":67,"modifier":"EXACT"},"end":{"value":111,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"references":[{"referenceNumber":1,"citation":{"id":"26871637","citationType":"journal article","authors":["Yang X.","Coulombe-Huntington J.","Kang S.","Sheynkman G.M.","Hao T.","Richardson A.","Sun S.","Yang F.","Shen Y.A.","Murray R.","Spirohn K.","Begg B.E.","Duran-Frigola M.","MacWilliams A.","Pevzner S.J.","Zhong Q.","Trigg S.A.","Tam S.","Ghamsari L.","Sahni N.","Yi S.","Rodriguez M.D.","Balcha D.","Tan G.","Costanzo M.","Andrews B.","Boone C.","Zhou X.J.","Salehi-Ashtiani K.","Charloteaux B.","Chen A.","Calderwood M.A.","Aloy P.","Roth F.P.","Hill D.E.","Iakoucheva L.M.","Xia Y.","Vidal M."],"citationCrossReferences":[{"database":"PubMed","id":"26871637"},{"database":"DOI","id":"10.1016/j.cell.2016.01.029"}],"title":"Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.","publicationDate":"2016","journal":"Cell","firstPage":"805","lastPage":"817","volume":"164"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33545.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"KU178087","properties":[{"key":"ProteinId","value":"ALQ33545.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"AlphaFoldDB","id":"A0A0S2Z4D9","properties":[{"key":"Description","value":"-"}]},{"database":"IntAct","id":"A0A0S2Z4D9","properties":[{"key":"Interactions","value":"8"}]},{"database":"PeptideAtlas","id":"A0A0S2Z4D9","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNQSPDDGVRYDHGWLPAPRGQGQLLPDGHLQPSRYPV","length":111,"molWeight":12046,"crc64":"E71AD306A7809D37","md5":"DFCD57CD1AD80CDF8314C8C9ECDFFBCA"},"extraAttributes":{"countByCommentType":{"INTERACTION":8},"countByFeatureType":{"Region":2,"Compositional bias":1},"uniParcId":"UPI0007224781"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"C9JT43","uniProtkbId":"C9JT43_HUMAN","entryAudit":{"firstPublicDate":"2009-11-03","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-03","entryVersion":87,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"}],"value":"Glutamate decarboxylase 1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"}],"value":"GAD1"}}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":121,"modifier":"EXACT"},"end":{"value":121,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"C9JT43"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"C9JT43"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394255.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"C9JT43","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"C9JT43","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"C9JT43","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"11551","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"Ensembl","id":"ENST00000456864.5","properties":[{"key":"ProteinId","value":"ENSP00000394255.1"},{"key":"GeneId","value":"ENSG00000128683.15"}]},{"database":"UCSC","id":"uc061pnr.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_156288_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RHATYHA","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"C9JT43","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"Gene3D","id":"3.90.1150.170","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVV","length":121,"molWeight":13381,"crc64":"6C96D6B22B811161","md5":"9873C71A568C45FC25DCF75EBE251690"},"extraAttributes":{"countByFeatureType":{"Region":1,"Compositional bias":1,"Non-terminal residue":1},"uniParcId":"UPI00018817EF"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A0S2Z3U2","uniProtkbId":"A0A0S2Z3U2_HUMAN","entryAudit":{"firstPublicDate":"2016-02-17","lastAnnotationUpdateDate":"2025-04-02","lastSequenceUpdateDate":"2016-02-17","entryVersion":13,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33546.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"2: Evidence at transcript level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33546.1"}],"value":"Glutamate decarboxylase 1 isoform 3"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33546.1"}],"value":"GAD1"}}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":43,"modifier":"EXACT"},"end":{"value":77,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":60,"modifier":"EXACT"},"end":{"value":77,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"references":[{"referenceNumber":1,"citation":{"id":"26871637","citationType":"journal article","authors":["Yang X.","Coulombe-Huntington J.","Kang S.","Sheynkman G.M.","Hao T.","Richardson A.","Sun S.","Yang F.","Shen Y.A.","Murray R.","Spirohn K.","Begg B.E.","Duran-Frigola M.","MacWilliams A.","Pevzner S.J.","Zhong Q.","Trigg S.A.","Tam S.","Ghamsari L.","Sahni N.","Yi S.","Rodriguez M.D.","Balcha D.","Tan G.","Costanzo M.","Andrews B.","Boone C.","Zhou X.J.","Salehi-Ashtiani K.","Charloteaux B.","Chen A.","Calderwood M.A.","Aloy P.","Roth F.P.","Hill D.E.","Iakoucheva L.M.","Xia Y.","Vidal M."],"citationCrossReferences":[{"database":"PubMed","id":"26871637"},{"database":"DOI","id":"10.1016/j.cell.2016.01.029"}],"title":"Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.","publicationDate":"2016","journal":"Cell","firstPage":"805","lastPage":"817","volume":"164"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ33546.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"KU178088","properties":[{"key":"ProteinId","value":"ALQ33546.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"AlphaFoldDB","id":"A0A0S2Z3U2","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"A0A0S2Z3U2","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKISPKGTRPTSSGWSSPTQPLPSLTLTSSLRR","length":77,"molWeight":7994,"crc64":"6F534FC6BC1BB62B","md5":"EC66A6FEF9C063C9A4BA97BF1ADEC7A1"},"extraAttributes":{"countByFeatureType":{"Region":2,"Compositional bias":2},"uniParcId":"UPI0007227FF2"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"C9JLZ7","uniProtkbId":"C9JLZ7_HUMAN","entryAudit":{"firstPublicDate":"2009-11-03","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-03","entryVersion":83,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"}],"value":"Glutamate decarboxylase 1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"}],"value":"GAD1"}}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":85,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"C9JLZ7"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"C9JLZ7"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000402366.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"C9JLZ7","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"C9JLZ7","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"10778","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"Ensembl","id":"ENST00000454603.5","properties":[{"key":"ProteinId","value":"ENSP00000402366.1"},{"key":"GeneId","value":"ENSG00000128683.15"}]},{"database":"UCSC","id":"uc061pni.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RHATYHA","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"C9JLZ7","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRD","length":85,"molWeight":9187,"crc64":"832B84801A9DA733","md5":"8F40887BA427CC1DC2B43A31B59749B0"},"extraAttributes":{"countByFeatureType":{"Region":1,"Compositional bias":1,"Non-terminal residue":1},"uniParcId":"UPI00018817EC"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"C9JN45","uniProtkbId":"C9JN45_HUMAN","entryAudit":{"firstPublicDate":"2009-11-03","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-03","entryVersion":80,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"}],"value":"Glutamate decarboxylase 1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"}],"value":"GAD1"}}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":19,"modifier":"EXACT"},"end":{"value":30,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":37,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000394948.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"C9JN45","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"Ensembl","id":"ENST00000445006.5","properties":[{"key":"ProteinId","value":"ENSP00000394948.1"},{"key":"GeneId","value":"ENSG00000128683.15"}]},{"database":"UCSC","id":"uc061pnj.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_3353403_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RHATYHA","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"C9JN45","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAH","length":37,"molWeight":3758,"crc64":"6BD963594C1E23C4","md5":"B169B317BF0E5A49943123281AAB7C91"},"extraAttributes":{"countByFeatureType":{"Region":1,"Compositional bias":2,"Non-terminal residue":1},"uniParcId":"UPI00018817ED"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"C9J6C9","uniProtkbId":"C9J6C9_HUMAN","entryAudit":{"firstPublicDate":"2009-11-03","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-03","entryVersion":86,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"}],"value":"Glutamate decarboxylase 1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"}],"value":"GAD1"}}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":115,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"C9J6C9"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"C9J6C9"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000405917.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"C9J6C9","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"C9J6C9","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"8751","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"Ensembl","id":"ENST00000455008.5","properties":[{"key":"ProteinId","value":"ENSP00000405917.1"},{"key":"GeneId","value":"ENSG00000128683.15"}]},{"database":"UCSC","id":"uc061pnq.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RHATYHA","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"C9J6C9","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]}],"sequence":{"value":"MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQ","length":115,"molWeight":12680,"crc64":"316116ADA2949BB8","md5":"C71785038DEDF74EA1A95AF3B9C22AA0"},"extraAttributes":{"countByFeatureType":{"Region":1,"Compositional bias":1,"Non-terminal residue":1},"uniParcId":"UPI00018817EE"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"U3KQR2","uniProtkbId":"U3KQR2_HUMAN","entryAudit":{"firstPublicDate":"2013-11-13","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2013-11-13","entryVersion":60,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"}],"value":"Glutamate decarboxylase 1"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"}],"value":"GAD1"}}],"features":[{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"U3KQR2"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"U3KQR2"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000476147.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC007405","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"MassIVE","id":"U3KQR2","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"3831","properties":[{"key":"antibodies","value":"774 antibodies from 49 providers"}]},{"database":"Ensembl","id":"ENST00000486850.1","properties":[{"key":"ProteinId","value":"ENSP00000476147.1"},{"key":"GeneId","value":"ENSG00000128683.15"}]},{"database":"UCSC","id":"uc061pnv.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:4092","properties":[{"key":"GeneName","value":"GAD1"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000128683","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000155526","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_2548819_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"392571at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"GAD1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"Bgee","id":"ENSG00000128683","properties":[{"key":"ExpressionPatterns","value":"Expressed in endothelial cell and 146 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"U3KQR2","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]}],"sequence":{"value":"XYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARGSPCPTPAPC","length":84,"molWeight":9472,"crc64":"4ACD1171C82DF511","md5":"BB35CAEA0793C036FA1A6987552E4C3B"},"extraAttributes":{"countByFeatureType":{"Non-terminal residue":1},"uniParcId":"UPI00038BB08A"}}]}