{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P23415","secondaryAccessions":["B2R6T3","Q14C77","Q6DJV9"],"uniProtkbId":"GLRA1_HUMAN","entryAudit":{"firstPublicDate":"1991-11-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2006-10-17","entryVersion":240,"sequenceVersion":2},"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":"Glycine receptor subunit alpha-1"}},"alternativeNames":[{"fullName":{"value":"Glycine receptor 48 kDa subunit"}},{"fullName":{"value":"Glycine receptor strychnine-binding subunit"}}],"flag":"Precursor"},"genes":[{"geneName":{"value":"GLRA1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64018"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14551753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16144831"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2155780"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22715885"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22973015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25445488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25973519"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7920629"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7925268"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9009272"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"8298642"}],"value":"Subunit of heteromeric glycine-gated chloride channels (PubMed:14551753, PubMed:23994010, PubMed:25730860, PubMed:37821459). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol (By similarity)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"chloride(in) = chloride(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29823"},{"database":"ChEBI","id":"CHEBI:17996"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37821459"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O93430"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14551753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16144831"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2155780"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22715885"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25445488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37821459"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9009272"}],"value":"Channel opening is triggered by extracellular glycine (PubMed:16144831, PubMed:2155780, PubMed:22715885, PubMed:37821459). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel activity is potentiated by nanomolar concentrations of Zn(2+); half-maximal activation is observed with 37 nM Zn(2+) (PubMed:16144831). Inhibited by higher Zn(2+) levels; haf-maximal inhibition occurs at 20 uM Zn(2+) (PubMed:16144831). Inhibited by strychnine (PubMed:16144831, PubMed:2155780, PubMed:25445488). Strychnine binding locks the channel in a closed conformation and prevents channel opening in response to extracellular glycine (By similarity). Inhibited by lindane (PubMed:25445488). Inhibited by picrotoxin (PubMed:22715885, PubMed:23994010, PubMed:25730860)"}],"commentType":"ACTIVITY REGULATION"},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7920629"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9009272"}],"value":"A concentration of about 0.02 mM glycine results in half-maximal channel conductance for homopentamers. A concentration of 0.018 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:9009272). A concentration of 0.027 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:7920629)."}]}}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14551753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22715885"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22973015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25445488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35526563"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37821459"}],"value":"Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed:22715885, PubMed:22973015, PubMed:25445488, PubMed:35526563, PubMed:37821459). Heteropentamer composed of four GLRA1 subunits and one GLRB subunit (PubMed:37821459). Heteropentamer composed of two GLRA1 and three GLRB (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed:22973015). Homopentamer (in vitro) (PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25730860). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:14551753, PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25445488, PubMed:25730860)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P23415","intActId":"EBI-12020340"},"interactantTwo":{"uniProtKBAccession":"P48167","geneName":"GLRB","intActId":"EBI-11733190"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P23415","intActId":"EBI-12020340"},"interactantTwo":{"uniProtKBAccession":"Q9Y5V3","geneName":"MAGED1","intActId":"EBI-716006"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P23415","intActId":"EBI-12020340"},"interactantTwo":{"uniProtKBAccession":"O60504","geneName":"SORBS3","intActId":"EBI-741237"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P23415-1","intActId":"EBI-16072009"},"interactantTwo":{"uniProtKBAccession":"P23415-1","geneName":"GLRA1","intActId":"EBI-16072009"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64018"}],"value":"Postsynaptic cell membrane","id":"SL-0219"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64018"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64018"}],"value":"Synapse","id":"SL-0258"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64018"}],"value":"Perikaryon","id":"SL-0197"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q64018"}],"value":"Cell projection, dendrite","id":"SL-0283"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14551753"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16144831"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2155780"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22715885"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22973015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24108130"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25445488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25973519"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7920629"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7925268"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9009272"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"2155780"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"a"},"isoformIds":["P23415-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"b"},"isoformIds":["P23415-2"],"sequenceIds":["VSP_021142"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"O93430"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"}],"value":"The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. In the absence of the extracellular domain, the channel is in a constitutively open conformation (PubMed:23994010). Channel opening is effected by an outward rotation of the transmembrane domains that increases the diameter of the pore (By similarity)"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Hyperekplexia 1","diseaseAccession":"DI-01087","acronym":"HKPX1","description":"A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.","diseaseCrossReference":{"database":"MIM","id":"149400"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10514101"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24108130"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7611730"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7881416"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7925268"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7981700"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8298642"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8571969"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8733061"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9009272"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9067762"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9920650"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.20"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"2155780"}],"value":"The alpha subunit binds strychnine"}],"commentType":"MISCELLANEOUS"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily"}],"commentType":"SIMILARITY"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":28,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P07727"},{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":29,"modifier":"EXACT"},"end":{"value":457,"modifier":"EXACT"}},"description":"Glycine receptor subunit alpha-1","featureId":"PRO_0000000412"},{"type":"Topological domain","location":{"start":{"value":29,"modifier":"EXACT"},"end":{"value":250,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000305"}]},{"type":"Transmembrane","location":{"start":{"value":251,"modifier":"EXACT"},"end":{"value":272,"modifier":"EXACT"}},"description":"Helical; Name=1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"}]},{"type":"Topological domain","location":{"start":{"value":273,"modifier":"EXACT"},"end":{"value":277,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23994010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25730860"}]},{"type":"Transmembrane","location":{"start":{"value":278,"modifier":"EXACT"},"end":{"value":298,"modifier":"EXACT"}},"description":"Helical; 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impairs expression at the cell membrane; requires much higher glycine levels for channel activation; dbSNP:rs199547699","featureCrossReferences":[{"database":"dbSNP","id":"rs199547699"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24108130"}],"featureId":"VAR_075418","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":100,"modifier":"EXACT"},"end":{"value":100,"modifier":"EXACT"}},"description":"in HKPX1; abolishes expression at the cell membrane; requires much higher glycine levels for channel activation; dbSNP:rs1581623910","featureCrossReferences":[{"database":"dbSNP","id":"rs1581623910"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24108130"}],"featureId":"VAR_075419","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":246,"modifier":"EXACT"},"end":{"value":246,"modifier":"EXACT"}},"description":"in HKPX1; 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