{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8NBK3","secondaryAccessions":["B4DXK5","B7XD05","E9PGL0","G5E9B0","Q0VAC6","Q0VAC7","Q2NL78","Q53ZE4","Q6UY39","Q96AK5","Q96DK8"],"uniProtkbId":"SUMF1_HUMAN","entryAudit":{"firstPublicDate":"2003-07-25","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2005-03-29","entryVersion":194,"sequenceVersion":3},"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":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12757705"}],"value":"Formylglycine-generating enzyme"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12757705"}],"value":"FGE"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"value":"1.8.3.7"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12757705"}],"value":"C-alpha-formylglycine-generating enzyme 1"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12757706"}],"value":"Sulfatase-modifying factor 1"}}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:20376"}],"value":"SUMF1"},"orfNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"16303743"}],"value":"PSEC0152"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12975309"}],"value":"UNQ3037/PRO9852"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16368756"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"value":"Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:25931126). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15657036, PubMed:15907468)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-cysteinyl-[sulfatase] + 2 a thiol + O2 = an organic disulfide + 3-oxo-L-alanyl-[sulfatase] + hydrogen sulfide + H2O + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:51152"},{"database":"Rhea","id":"RHEA-COMP:12900"},{"database":"Rhea","id":"RHEA-COMP:12901"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:15379"},{"database":"ChEBI","id":"CHEBI:29256"},{"database":"ChEBI","id":"CHEBI:29919"},{"database":"ChEBI","id":"CHEBI:29950"},{"database":"ChEBI","id":"CHEBI:35489"},{"database":"ChEBI","id":"CHEBI:85621"}],"ecNumber":"1.8.3.7","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}]}},{"commentType":"COFACTOR","cofactors":[{"name":"Cu(2+)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:29036"}}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"value":"The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation."}]}},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"michaelisConstants":[{"constant":0.34,"unit":"uM","substrate":"[sulfatase]-L-cysteine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}]}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"value":"kcat is 6.06 min(-1) with [sulfatase]-L-cysteine as substrate."}]}}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"value":"Protein modification; sulfatase oxidation"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15962010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16368756"}],"value":"Monomer, homodimer and heterodimer with SUMF2"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8NBK3","intActId":"EBI-2853497"},"interactantTwo":{"uniProtKBAccession":"Q99895","geneName":"CTRC","intActId":"EBI-10295404"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8NBK3","intActId":"EBI-2853497"},"interactantTwo":{"uniProtKBAccession":"P51688","geneName":"SGSH","intActId":"EBI-2907521"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8NBK3","intActId":"EBI-2853497"},"interactantTwo":{"uniProtKBAccession":"Q8NBK3","geneName":"SUMF1","intActId":"EBI-2853497"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8NBK3","intActId":"EBI-2853497"},"interactantTwo":{"uniProtKBAccession":"Q8NBJ7","geneName":"SUMF2","intActId":"EBI-723091"},"numberOfExperiments":9,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15962010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18266766"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}],"value":"Endoplasmic reticulum lumen","id":"SL-0096"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q8NBK3-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q8NBK3-2"],"sequenceIds":["VSP_007877"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q8NBK3-3"],"sequenceIds":["VSP_013185"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q8NBK3-4"],"sequenceIds":["VSP_045414"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q8NBK3-5"],"sequenceIds":["VSP_045415"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15962010"}],"value":"Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"}],"value":"N-glycosylated. Contains high-mannose-type oligosaccharides"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Multiple sulfatase deficiency","diseaseAccession":"DI-00791","acronym":"MSD","description":"A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.","diseaseCrossReference":{"database":"MIM","id":"272200"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757705"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18157819"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"}],"value":"The disease is caused by variants affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases"}]}},{"texts":[{"value":"The resulting 3-oxoalanine in the substrate protein is called C(alpha)-formylglycine by many authors. It should not be confused with N-formylglycine"}],"commentType":"MISCELLANEOUS"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the sulfatase-modifying factor family"}],"commentType":"SIMILARITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25931126"}],"value":"The disulfide bond observed in the structure does not exist in vivo (PubMed:15907468). The enzyme reaction was initially thought to act via a redox-active disulfide bond mechanism; however the disulfide bond only takes place with inactive enzyme that lacks the copper cofactor (PubMed:25931126). The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation (PubMed:25931126)"}],"commentType":"CAUTION"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":33,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"}]},{"type":"Chain","location":{"start":{"value":34,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"Formylglycine-generating enzyme","featureId":"PRO_0000033456"},{"type":"Region","location":{"start":{"value":61,"modifier":"EXACT"},"end":{"value":84,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":341,"modifier":"EXACT"},"end":{"value":360,"modifier":"EXACT"}},"description":"Interaction with sulfatases","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16368756"}]},{"type":"Binding site","location":{"start":{"value":130,"modifier":"EXACT"},"end":{"value":130,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"2"}},{"type":"Binding site","location":{"start":{"value":259,"modifier":"EXACT"},"end":{"value":259,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"1"}},{"type":"Binding site","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":260,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"1"}},{"type":"Binding site","location":{"start":{"value":273,"modifier":"EXACT"},"end":{"value":273,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"1"}},{"type":"Binding site","location":{"start":{"value":275,"modifier":"EXACT"},"end":{"value":275,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"1"}},{"type":"Binding site","location":{"start":{"value":293,"modifier":"EXACT"},"end":{"value":293,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"2"}},{"type":"Binding site","location":{"start":{"value":296,"modifier":"EXACT"},"end":{"value":296,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"2"}},{"type":"Binding site","location":{"start":{"value":298,"modifier":"EXACT"},"end":{"value":298,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"2"}},{"type":"Binding site","location":{"start":{"value":300,"modifier":"EXACT"},"end":{"value":300,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"ligand":{"name":"Ca(2+)","id":"ChEBI:CHEBI:29108","label":"2"}},{"type":"Binding site","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29036"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"25931126"}],"ligand":{"name":"Cu(2+)","id":"ChEBI:CHEBI:29036","note":"catalytic"}},{"type":"Binding site","location":{"start":{"value":341,"modifier":"EXACT"},"end":{"value":341,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29036"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"25931126"}],"ligand":{"name":"Cu(2+)","id":"ChEBI:CHEBI:29036","note":"catalytic"}},{"type":"Glycosylation","location":{"start":{"value":141,"modifier":"EXACT"},"end":{"value":141,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":50,"modifier":"EXACT"},"end":{"value":52,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}]},{"type":"Disulfide bond","location":{"start":{"value":218,"modifier":"EXACT"},"end":{"value":365,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}]},{"type":"Disulfide bond","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":346,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":90,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_007877","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":149,"modifier":"EXACT"},"end":{"value":173,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_045414","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":319,"modifier":"EXACT"},"end":{"value":338,"modifier":"EXACT"}},"description":"in isoform 5","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_045415","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":340,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12975309"}],"featureId":"VSP_013185","alternativeSequence":{"originalSequence":"YCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD","alternativeSequences":["QEYYDPYFQDVASEMLRRHTASRWKAFSSLEPCCSIRRHQQYAAIERLTCGKFELRCASLRKIDCLNTNIACSYSMRQHGPRLHCVD"]}},{"type":"Natural variant","location":{"start":{"value":20,"modifier":"EXACT"},"end":{"value":20,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs200142963","featureCrossReferences":[{"database":"dbSNP","id":"rs200142963"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_019050","alternativeSequence":{"originalSequence":"L","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":63,"modifier":"EXACT"},"end":{"value":63,"modifier":"EXACT"}},"description":"in dbSNP:rs2819590","featureCrossReferences":[{"database":"dbSNP","id":"rs2819590"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757705"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12975309"}],"featureId":"VAR_016052","alternativeSequence":{"originalSequence":"S","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":155,"modifier":"EXACT"},"end":{"value":155,"modifier":"EXACT"}},"description":"in MSD; loss of enzyme activity; dbSNP:rs137852850","featureCrossReferences":[{"database":"dbSNP","id":"rs137852850"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}],"featureId":"VAR_016053","alternativeSequence":{"originalSequence":"S","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":177,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type; dbSNP:rs1359106679","featureCrossReferences":[{"database":"dbSNP","id":"rs1359106679"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18157819"}],"featureId":"VAR_019051","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"in MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type; dbSNP:rs757323641","featureCrossReferences":[{"database":"dbSNP","id":"rs757323641"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18157819"}],"featureId":"VAR_042602","alternativeSequence":{"originalSequence":"W","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":218,"modifier":"EXACT"},"end":{"value":218,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs137852854","featureCrossReferences":[{"database":"dbSNP","id":"rs137852854"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_016054","alternativeSequence":{"originalSequence":"C","alternativeSequences":["Y"]}},{"type":"Natural variant","location":{"start":{"value":224,"modifier":"EXACT"},"end":{"value":224,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs759888604","featureCrossReferences":[{"database":"dbSNP","id":"rs759888604"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_019052","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":247,"modifier":"EXACT"},"end":{"value":247,"modifier":"EXACT"}},"description":"in MSD; dbSNP:rs1057517363","featureCrossReferences":[{"database":"dbSNP","id":"rs1057517363"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}],"featureId":"VAR_080468","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":259,"modifier":"EXACT"},"end":{"value":259,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs764215221","featureCrossReferences":[{"database":"dbSNP","id":"rs764215221"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_019053","alternativeSequence":{"originalSequence":"N","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":263,"modifier":"EXACT"},"end":{"value":263,"modifier":"EXACT"}},"description":"in MSD; mild phenotype; reduced but not abolished activity; dbSNP:rs387906976","featureCrossReferences":[{"database":"dbSNP","id":"rs387906976"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}],"featureId":"VAR_080469","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":266,"modifier":"EXACT"},"end":{"value":266,"modifier":"EXACT"}},"description":"in MSD; retains some activity; dbSNP:rs763243827","featureCrossReferences":[{"database":"dbSNP","id":"rs763243827"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_019054","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":279,"modifier":"EXACT"},"end":{"value":279,"modifier":"EXACT"}},"description":"in MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased; dbSNP:rs137852849","featureCrossReferences":[{"database":"dbSNP","id":"rs137852849"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757705"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18157819"}],"featureId":"VAR_016055","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":327,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"in MSD; almost abolished enzyme activity","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}],"featureId":"VAR_080470","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs137852848","featureCrossReferences":[{"database":"dbSNP","id":"rs137852848"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757705"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_016056","alternativeSequence":{"originalSequence":"C","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":345,"modifier":"EXACT"},"end":{"value":345,"modifier":"EXACT"}},"description":"in MSD; reduced but not abolished activity; dbSNP:rs137852852","featureCrossReferences":[{"database":"dbSNP","id":"rs137852852"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}],"featureId":"VAR_016057","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":348,"modifier":"EXACT"},"end":{"value":348,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs137852853","featureCrossReferences":[{"database":"dbSNP","id":"rs137852853"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_016058","alternativeSequence":{"originalSequence":"A","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":349,"modifier":"EXACT"}},"description":"in MSD; loss of activity; dbSNP:rs137852847","featureCrossReferences":[{"database":"dbSNP","id":"rs137852847"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757705"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"}],"featureId":"VAR_016059","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":349,"modifier":"EXACT"}},"description":"in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased; dbSNP:rs137852846","featureCrossReferences":[{"database":"dbSNP","id":"rs137852846"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757705"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12757706"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15146462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18157819"}],"featureId":"VAR_016060","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Mutagenesis","location":{"start":{"value":333,"modifier":"EXACT"},"end":{"value":333,"modifier":"EXACT"}},"description":"Loss of activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":333,"modifier":"EXACT"},"end":{"value":333,"modifier":"EXACT"}},"description":"Reduces activity by 99%.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["T"]}},{"type":"Mutagenesis","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":336,"modifier":"EXACT"}},"description":"Loss of activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["S"]}},{"type":"Mutagenesis","location":{"start":{"value":337,"modifier":"EXACT"},"end":{"value":337,"modifier":"EXACT"}},"description":"Reduces activity 5-fold.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":340,"modifier":"EXACT"},"end":{"value":340,"modifier":"EXACT"}},"description":"No effect.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"alternativeSequence":{"originalSequence":"Y","alternativeSequences":["F"]}},{"type":"Mutagenesis","location":{"start":{"value":341,"modifier":"EXACT"},"end":{"value":341,"modifier":"EXACT"}},"description":"Loss of activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15907468"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":112,"modifier":"EXACT"},"end":{"value":112,"modifier":"EXACT"}},"description":"in Ref. 5; BAG63417","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":119,"modifier":"EXACT"},"end":{"value":119,"modifier":"EXACT"}},"description":"in Ref. 9; AAI21124","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":124,"modifier":"EXACT"},"end":{"value":124,"modifier":"EXACT"}},"description":"in Ref. 6; BAC11634","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":264,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"in Ref. 6; BAC11634","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["D"]}},{"type":"Beta strand","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":94,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":97,"modifier":"EXACT"},"end":{"value":102,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":109,"modifier":"EXACT"},"end":{"value":111,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":114,"modifier":"EXACT"},"end":{"value":116,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Z70"}]},{"type":"Beta strand","location":{"start":{"value":117,"modifier":"EXACT"},"end":{"value":121,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":124,"modifier":"EXACT"},"end":{"value":129,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":133,"modifier":"EXACT"},"end":{"value":143,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":145,"modifier":"EXACT"},"end":{"value":147,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSZ"}]},{"type":"Helix","location":{"start":{"value":148,"modifier":"EXACT"},"end":{"value":152,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":158,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":161,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":180,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":211,"modifier":"EXACT"},"end":{"value":220,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":227,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":228,"modifier":"EXACT"},"end":{"value":236,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":252,"modifier":"EXACT"},"end":{"value":254,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Turn","location":{"start":{"value":265,"modifier":"EXACT"},"end":{"value":267,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":292,"modifier":"EXACT"},"end":{"value":305,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":315,"modifier":"EXACT"},"end":{"value":317,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":325,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Turn","location":{"start":{"value":338,"modifier":"EXACT"},"end":{"value":340,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":350,"modifier":"EXACT"},"end":{"value":352,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Beta strand","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":369,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSX"}]},{"type":"Helix","location":{"start":{"value":370,"modifier":"EXACT"},"end":{"value":373,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5SSZ"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0106","category":"Ligand","name":"Calcium"},{"id":"KW-0186","category":"Ligand","name":"Copper"},{"id":"KW-0903","category":"Technical term","name":"Direct protein sequencing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-1015","category":"PTM","name":"Disulfide bond"},{"id":"KW-0256","category":"Cellular component","name":"Endoplasmic reticulum"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-0977","category":"Disease","name":"Ichthyosis"},{"id":"KW-1026","category":"Disease","name":"Leukodystrophy"},{"id":"KW-0478","category":"Disease","name":"Metachromatic leukodystrophy"},{"id":"KW-0479","category":"Ligand","name":"Metal-binding"},{"id":"KW-0510","category":"Disease","name":"Mucopolysaccharidosis"},{"id":"KW-0560","category":"Molecular function","name":"Oxidoreductase"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0732","category":"Domain","name":"Signal"}],"references":[{"referenceNumber":1,"citation":{"id":"12757705","citationType":"journal article","authors":["Dierks T.","Schmidt B.","Borissenko L.V.","Peng J.","Preusser A.","Mariappan M.","von Figura K."],"citationCrossReferences":[{"database":"PubMed","id":"12757705"},{"database":"DOI","id":"10.1016/s0092-8674(03)00347-7"}],"title":"Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme.","publicationDate":"2003","journal":"Cell","firstPage":"435","lastPage":"444","volume":"113"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","VARIANTS MSD VAL-279; ARG-336; GLN-349 AND TRP-349","VARIANT ASN-63"]},{"referenceNumber":2,"citation":{"id":"12757706","citationType":"journal article","authors":["Cosma M.P.","Pepe S.","Annunziata I.","Newbold R.F.","Grompe M.","Parenti G.","Ballabio A."],"citationCrossReferences":[{"database":"PubMed","id":"12757706"},{"database":"DOI","id":"10.1016/s0092-8674(03)00348-9"}],"title":"The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.","publicationDate":"2003","journal":"Cell","firstPage":"445","lastPage":"456","volume":"113"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","VARIANTS MSD PRO-155; TYR-218; ARG-336; CYS-345; PRO-348; GLN-349 AND TRP-349","FUNCTION"]},{"referenceNumber":3,"citation":{"id":"19262745","citationType":"journal article","authors":["Oshikawa M.","Usami R.","Kato S."],"citationCrossReferences":[{"database":"PubMed","id":"19262745"}],"title":"Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.","publicationDate":"2009","journal":"Mol. Vis.","firstPage":"482","lastPage":"494","volume":"15"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA]"]},{"referenceNumber":4,"citation":{"id":"12975309","citationType":"journal article","authors":["Clark H.F.","Gurney A.L.","Abaya E.","Baker K.","Baldwin D.T.","Brush J.","Chen J.","Chow B.","Chui C.","Crowley C.","Currell B.","Deuel B.","Dowd P.","Eaton D.","Foster J.S.","Grimaldi C.","Gu Q.","Hass P.E.","Heldens S.","Huang A.","Kim H.S.","Klimowski L.","Jin Y.","Johnson S.","Lee J.","Lewis L.","Liao D.","Mark M.R.","Robbie E.","Sanchez C.","Schoenfeld J.","Seshagiri S.","Simmons L.","Singh J.","Smith V.","Stinson J.","Vagts A.","Vandlen R.L.","Watanabe C.","Wieand D.","Woods K.","Xie M.-H.","Yansura D.G.","Yi S.","Yu G.","Yuan J.","Zhang M.","Zhang Z.","Goddard A.D.","Wood W.I.","Godowski P.J.","Gray A.M."],"citationCrossReferences":[{"database":"PubMed","id":"12975309"},{"database":"DOI","id":"10.1101/gr.1293003"}],"title":"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.","publicationDate":"2003","journal":"Genome Res.","firstPage":"2265","lastPage":"2270","volume":"13"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)","VARIANT ASN-63"]},{"referenceNumber":5,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4)"],"referenceComments":[{"value":"Gastric mucosa","type":"TISSUE"},{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"16303743","citationType":"journal article","authors":["Otsuki T.","Ota T.","Nishikawa T.","Hayashi K.","Suzuki Y.","Yamamoto J.","Wakamatsu A.","Kimura K.","Sakamoto K.","Hatano N.","Kawai Y.","Ishii S.","Saito K.","Kojima S.","Sugiyama T.","Ono T.","Okano K.","Yoshikawa Y.","Aotsuka S.","Sasaki N.","Hattori A.","Okumura K.","Nagai K.","Sugano S.","Isogai T."],"citationCrossReferences":[{"database":"PubMed","id":"16303743"},{"database":"DOI","id":"10.1093/dnares/12.2.117"}],"title":"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.","publicationDate":"2005","journal":"DNA Res.","firstPage":"117","lastPage":"126","volume":"12"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"16641997","citationType":"journal article","authors":["Muzny D.M.","Scherer S.E.","Kaul R.","Wang J.","Yu J.","Sudbrak R.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.-Z.","Steffen D.","Wei S.","Wheeler D.A.","Wright M.W.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clendenning J.","Clerc-Blankenburg K.P.","Chen R.","Chen Z.","Davis C.","Delgado O.","Dinh H.H.","Dong W.","Draper H.","Ernst S.","Fu G.","Gonzalez-Garay M.L.","Garcia D.K.","Gillett W.","Gu J.","Hao B.","Haugen E.","Havlak P.","He X.","Hennig S.","Hu S.","Huang W.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Kube M.","Levy R.","Li Z.","Liu B.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.-V.","Okwuonu G.O.","Palmeiri A.","Pasternak S.","Perez L.M.","Phelps K.A.","Plopper F.J.","Qiang B.","Raymond C.","Rodriguez R.","Saenphimmachak C.","Santibanez J.","Shen H.","Shen Y.","Subramanian S.","Tabor P.E.","Verduzco D.","Waldron L.","Wang J.","Wang J.","Wang Q.","Williams G.A.","Wong G.K.-S.","Yao Z.","Zhang J.","Zhang X.","Zhao G.","Zhou J.","Zhou Y.","Nelson D.","Lehrach H.","Reinhardt R.","Naylor S.L.","Yang H.","Olson M.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16641997"},{"database":"DOI","id":"10.1038/nature04728"}],"title":"The DNA sequence, annotation and analysis of human chromosome 3.","publicationDate":"2006","journal":"Nature","firstPage":"1194","lastPage":"1198","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":8,"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":9,"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 AND 5)"],"referenceComments":[{"value":"Colon","type":"TISSUE"},{"value":"Prostate","type":"TISSUE"}]},{"referenceNumber":10,"citation":{"id":"15962010","citationType":"journal article","authors":["Zito E.","Fraldi A.","Pepe S.","Annunziata I.","Kobinger G.","Di Natale P.","Ballabio A.","Cosma M.P."],"citationCrossReferences":[{"database":"PubMed","id":"15962010"},{"database":"DOI","id":"10.1038/sj.embor.7400454"}],"title":"Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.","publicationDate":"2005","journal":"EMBO Rep.","firstPage":"655","lastPage":"660","volume":"6"},"referencePositions":["SUBUNIT","INTERACTION WITH SUMF2","SUBCELLULAR LOCATION","TISSUE SPECIFICITY"]},{"referenceNumber":11,"citation":{"id":"15657036","citationType":"journal article","authors":["Preusser-Kunze A.","Mariappan M.","Schmidt B.","Gande S.L.","Mutenda K.","Wenzel D.","von Figura K.","Dierks T."],"citationCrossReferences":[{"database":"PubMed","id":"15657036"},{"database":"DOI","id":"10.1074/jbc.m413383200"}],"title":"Molecular characterization of the human Calpha-formylglycine-generating enzyme.","publicationDate":"2005","journal":"J. Biol. Chem.","firstPage":"14900","lastPage":"14910","volume":"280"},"referencePositions":["PROTEIN SEQUENCE OF N-TERMINUS","FUNCTION","CATALYTIC ACTIVITY","IDENTIFICATION BY MASS SPECTROMETRY","CALCIUM-BINDING","GLYCOSYLATION AT ASN-141","SUBCELLULAR LOCATION","DISULFIDE BONDS"]},{"referenceNumber":12,"citation":{"id":"15907468","citationType":"journal article","authors":["Dierks T.","Dickmanns A.","Preusser-Kunze A.","Schmidt B.","Mariappan M.","von Figura K.","Ficner R.","Rudolph M.G."],"citationCrossReferences":[{"database":"PubMed","id":"15907468"},{"database":"DOI","id":"10.1016/j.cell.2005.03.001"}],"title":"Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.","publicationDate":"2005","journal":"Cell","firstPage":"541","lastPage":"552","volume":"121"},"referencePositions":["PARTIAL PROTEIN SEQUENCE","X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 73-374 IN COMPLEX WITH CALCIUM","FUNCTION","GLYCOSYLATION AT ASN-141","MUTAGENESIS OF SER-333; CYS-336; HIS-337; TYR-340 AND CYS-341","DISULFIDE BONDS"]},{"referenceNumber":13,"citation":{"id":"18266766","citationType":"journal article","authors":["Gande S.L.","Mariappan M.","Schmidt B.","Pringle T.H.","von Figura K.","Dierks T."],"citationCrossReferences":[{"database":"PubMed","id":"18266766"},{"database":"DOI","id":"10.1111/j.1742-4658.2008.06271.x"}],"title":"Paralog of the formylglycine-generating enzyme--retention in the endoplasmic reticulum by canonical and noncanonical signals.","publicationDate":"2008","journal":"FEBS J.","firstPage":"1118","lastPage":"1130","volume":"275"},"referencePositions":["SUBCELLULAR LOCATION"]},{"referenceNumber":14,"citation":{"id":"19159218","citationType":"journal article","authors":["Chen R.","Jiang X.","Sun D.","Han G.","Wang F.","Ye M.","Wang L.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"19159218"},{"database":"DOI","id":"10.1021/pr8008012"}],"title":"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.","publicationDate":"2009","journal":"J. Proteome Res.","firstPage":"651","lastPage":"661","volume":"8"},"referencePositions":["GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-141"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":15,"citation":{"id":"25944712","citationType":"journal article","authors":["Vaca Jacome A.S.","Rabilloud T.","Schaeffer-Reiss C.","Rompais M.","Ayoub D.","Lane L.","Bairoch A.","Van Dorsselaer A.","Carapito C."],"citationCrossReferences":[{"database":"PubMed","id":"25944712"},{"database":"DOI","id":"10.1002/pmic.201400617"}],"title":"N-terminome analysis of the human mitochondrial proteome.","publicationDate":"2015","journal":"Proteomics","firstPage":"2519","lastPage":"2524","volume":"15"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":16,"citation":{"id":"25931126","citationType":"journal article","authors":["Holder P.G.","Jones L.C.","Drake P.M.","Barfield R.M.","Banas S.","de Hart G.W.","Baker J.","Rabuka D."],"citationCrossReferences":[{"database":"PubMed","id":"25931126"},{"database":"DOI","id":"10.1074/jbc.m115.652669"}],"title":"Reconstitution of formylglycine-generating enzyme with copper(II) for aldehyde tag conversion.","publicationDate":"2015","journal":"J. Biol. Chem.","firstPage":"15730","lastPage":"15745","volume":"290"},"referencePositions":["FUNCTION","PATHWAY","BIOPHYSICOCHEMICAL PROPERTIES","CATALYTIC ACTIVITY","COFACTOR"]},{"referenceNumber":17,"citation":{"id":"16368756","citationType":"journal article","authors":["Roeser D.","Preusser-Kunze A.","Schmidt B.","Gasow K.","Wittmann J.G.","Dierks T.","von Figura K.","Rudolph M.G."],"citationCrossReferences":[{"database":"PubMed","id":"16368756"},{"database":"DOI","id":"10.1073/pnas.0507592102"}],"title":"A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.","publicationDate":"2006","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"81","lastPage":"86","volume":"103"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (1.48 ANGSTROMS) OF MUTANTS SER-336 AND SER-341 IN COMPLEX WITH SULFATASE PEPTIDE","FUNCTION"]},{"referenceNumber":18,"citation":{"id":"15146462","citationType":"journal article","authors":["Cosma M.P.","Pepe S.","Parenti G.","Settembre C.","Annunziata I.","Wade-Martins R.","Domenico C.D.","Natale P.D.","Mankad A.","Cox B.","Uziel G.","Mancini G.M.","Zammarchi E.","Donati M.A.","Kleijer W.J.","Filocamo M.","Carrozzo R.","Carella M.","Ballabio A."],"citationCrossReferences":[{"database":"PubMed","id":"15146462"},{"database":"DOI","id":"10.1002/humu.20040"}],"title":"Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.","publicationDate":"2004","journal":"Hum. Mutat.","firstPage":"576","lastPage":"581","volume":"23"},"referencePositions":["VARIANTS MSD PHE-20; PRO-177; TRP-224; ILE-259 AND LEU-266","CHARACTERIZATION OF VARIANTS MSD PHE-20; PRO-155; PRO-177; TYR-218; TRP-224; ILE-259; LEU-266; VAL-279; ARG-336; CYS-345; PRO-348; TRP-349 AND GLN-349"]},{"referenceNumber":19,"citation":{"id":"18157819","citationType":"journal article","authors":["Schlotawa L.","Steinfeld R.","von Figura K.","Dierks T.","Gaertner J."],"citationCrossReferences":[{"database":"PubMed","id":"18157819"},{"database":"DOI","id":"10.1002/humu.9515"}],"title":"Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.","publicationDate":"2008","journal":"Hum. Mutat.","firstPage":"205","lastPage":"205","volume":"29"},"referencePositions":["CHARACTERIZATION OF VARIANTS MSD PRO-177; SER-179; VAL-279 AND TRP-349"]},{"referenceNumber":20,"citation":{"id":"21224894","citationType":"journal article","authors":["Schlotawa L.","Ennemann E.C.","Radhakrishnan K.","Schmidt B.","Chakrapani A.","Christen H.J.","Moser H.","Steinmann B.","Dierks T.","Gaertner J."],"citationCrossReferences":[{"database":"PubMed","id":"21224894"},{"database":"DOI","id":"10.1038/ejhg.2010.219"}],"title":"SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.","publicationDate":"2011","journal":"Eur. J. Hum. Genet.","firstPage":"253","lastPage":"261","volume":"19"},"referencePositions":["VARIANTS MSD PRO-155; ARG-247; VAL-263; 327-ARG--ASP-374 DEL AND CYS-345","FUNCTION","SUBCELLULAR LOCATION","CHARACTERIZATION OF VARIANTS MSD PRO-155; VAL-263; 327-ARG--ASP-374 DEL AND CYS-345"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AY208752","properties":[{"key":"ProteinId","value":"AAO34683.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY323910","properties":[{"key":"ProteinId","value":"AAP86217.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB448737","properties":[{"key":"ProteinId","value":"BAH11168.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY358092","properties":[{"key":"ProteinId","value":"AAQ88459.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK057983","properties":[{"key":"ProteinId","value":"BAB71625.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK302018","properties":[{"key":"ProteinId","value":"BAG63417.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK075459","properties":[{"key":"ProteinId","value":"BAC11634.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC018822","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC023480","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC023483","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC023484","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC024167","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC024168","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC034191","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471055","properties":[{"key":"ProteinId","value":"EAW63906.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471055","properties":[{"key":"ProteinId","value":"EAW63907.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC017005","properties":[{"key":"ProteinId","value":"AAH17005.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC110862","properties":[{"key":"ProteinId","value":"AAI10863.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC121122","properties":[{"key":"ProteinId","value":"AAI21123.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC121123","properties":[{"key":"ProteinId","value":"AAI21124.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS2564.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8NBK3-1"},{"database":"CCDS","id":"CCDS54548.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8NBK3-4"},{"database":"CCDS","id":"CCDS54549.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8NBK3-5"},{"database":"RefSeq","id":"NP_001158146.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001164674.2"}],"isoformId":"Q8NBK3-4"},{"database":"RefSeq","id":"NP_001158147.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001164675.2"}],"isoformId":"Q8NBK3-5"},{"database":"RefSeq","id":"NP_877437.2","properties":[{"key":"NucleotideSequenceId","value":"NM_182760.4"}],"isoformId":"Q8NBK3-1"},{"database":"PDB","id":"1Y1E","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.73 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"1Y1F","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.80 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"1Y1G","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.67 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"1Y1H","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.67 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"1Y1I","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.61 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"1Y1J","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.55 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"1Z70","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.15 A"},{"key":"Chains","value":"X=73-374"}]},{"database":"PDB","id":"2AFT","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.66 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"2AFY","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.49 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"2AII","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.54 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"2AIJ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.55 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"2AIK","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.73 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"2HI8","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.64 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"2HIB","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.00 A"},{"key":"Chains","value":"X=86-371"}]},{"database":"PDB","id":"5SSX","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.02 A"},{"key":"Chains","value":"A=73-374"}]},{"database":"PDB","id":"5SSY","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.29 A"},{"key":"Chains","value":"A=73-374"}]},{"database":"PDB","id":"5SSZ","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.02 A"},{"key":"Chains","value":"A=73-374"}]},{"database":"PDB","id":"8ARU","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.08 A"},{"key":"Chains","value":"A=73-374"}]},{"database":"PDBsum","id":"1Y1E","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"1Y1F","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"1Y1G","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"1Y1H","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"1Y1I","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"1Y1J","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"1Z70","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2AFT","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2AFY","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2AII","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2AIJ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2AIK","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2HI8","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"2HIB","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5SSX","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5SSY","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5SSZ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8ARU","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"130091","properties":[{"key":"Interactions","value":"80"}]},{"database":"FunCoup","id":"Q8NBK3","properties":[{"key":"Number of interactors","value":"861"}]},{"database":"IntAct","id":"Q8NBK3","properties":[{"key":"Interactions","value":"50"}]},{"database":"MINT","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"STRING","id":"9606.ENSP00000272902","properties":[{"key":"Description","value":"-"}]},{"database":"GlyConnect","id":"Q8NBK3","properties":[{"key":"glycosylation","value":"4 N-Linked glycans (1 site)"}]},{"database":"GlyCosmos","id":"Q8NBK3","properties":[{"key":"glycosylation","value":"1 site, 4 glycans"}]},{"database":"GlyGen","id":"Q8NBK3","properties":[{"key":"glycosylation","value":"2 sites, 11 N-linked glycans (1 site), 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SUMF1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"62298562","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000272902","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"20338","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"33885","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"72786","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8NBK3-1"},{"database":"ProteomicsDB","id":"72787","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8NBK3-2"},{"database":"ProteomicsDB","id":"72788","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8NBK3-3"},{"database":"Pumba","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"44604","properties":[{"key":"antibodies","value":"197 antibodies from 29 providers"}]},{"database":"DNASU","id":"285362","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000272902.10","properties":[{"key":"ProteinId","value":"ENSP00000272902.5"},{"key":"GeneId","value":"ENSG00000144455.15"}],"isoformId":"Q8NBK3-1"},{"database":"Ensembl","id":"ENST00000383843.9","properties":[{"key":"ProteinId","value":"ENSP00000373355.5"},{"key":"GeneId","value":"ENSG00000144455.15"}],"isoformId":"Q8NBK3-4"},{"database":"Ensembl","id":"ENST00000405420.2","properties":[{"key":"ProteinId","value":"ENSP00000384977.2"},{"key":"GeneId","value":"ENSG00000144455.15"}],"isoformId":"Q8NBK3-5"},{"database":"GeneID","id":"285362","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:285362","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000272902.10","properties":[{"key":"ProteinId","value":"ENSP00000272902.5"},{"key":"RefSeqNucleotideId","value":"NM_182760.4"},{"key":"RefSeqProteinId","value":"NP_877437.2"}]},{"database":"UCSC","id":"uc003bpz.3","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q8NBK3-1"},{"database":"AGR","id":"HGNC:20376","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134977552","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"285362","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"285362","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SUMF1","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"SUMF1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:20376","properties":[{"key":"GeneName","value":"SUMF1"}]},{"database":"HPA","id":"ENSG00000144455","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"SUMF1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"272200","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"607939","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000144455","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"585","properties":[{"key":"Disease","value":"Multiple sulfatase deficiency"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000144455","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QVDG","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000008983","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_012431_4_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"RQNVYDL","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"659at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q8NBK3","properties":[{"key":"Number of GO annotations","value":"2 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"BioCyc","id":"MetaCyc:ENSG00000144455-MONOMER","properties":[{"key":"Description","value":"-"}]},{"database":"BRENDA","id":"1.8.3.7","properties":[{"key":"OrganismId","value":"2681"}]},{"database":"PathwayCommons","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-1663150","properties":[{"key":"PathwayName","value":"The activation of arylsulfatases"}]},{"database":"Reactome","id":"R-HSA-9840310","properties":[{"key":"PathwayName","value":"Glycosphingolipid catabolism"}]},{"database":"SignaLink","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"UniPathway","id":"UPA00910","properties":[{"key":"RectionId","value":"-"}]},{"database":"Agora","id":"ENSG00000144455","properties":[{"key":"NominatedTarget","value":"Agora Nominated Target for Alzheimer's Disease"}]},{"database":"BioGRID-ORCS","id":"285362","properties":[{"key":"hits","value":"9 hits in 1156 CRISPR screens"}]},{"database":"ChiTaRS","id":"SUMF1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"GeneWiki","id":"SUMF1","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"285362","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q8NBK3","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q8NBK3","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"RNAct","id":"Q8NBK3","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000144455","properties":[{"key":"ExpressionPatterns","value":"Expressed in kidney epithelium and 196 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q8NBK3","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"18266766"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21224894"}]},{"database":"GO","id":"GO:0005788","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum lumen"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15657036"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18266766"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21224894"}]},{"database":"GO","id":"GO:1903135","properties":[{"key":"GoTerm","value":"F:cupric ion binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25931126"}]},{"database":"GO","id":"GO:0120147","properties":[{"key":"GoTerm","value":"F:formylglycine-generating oxidase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21224894"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25931126"}]},{"database":"GO","id":"GO:0042802","properties":[{"key":"GoTerm","value":"F:identical protein binding"},{"key":"GoEvidenceType","value":"IPI:IntAct"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"15962010"}]},{"database":"GO","id":"GO:0016491","properties":[{"key":"GoTerm","value":"F:oxidoreductase activity"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0046479","properties":[{"key":"GoTerm","value":"P:glycosphingolipid catabolic process"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0043687","properties":[{"key":"GoTerm","value":"P:post-translational protein modification"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21224894"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25931126"}]},{"database":"GO","id":"GO:0018158","properties":[{"key":"GoTerm","value":"P:protein oxidation"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21224894"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25931126"}]},{"database":"FunFam","id":"3.90.1580.10:FF:000001","properties":[{"key":"EntryName","value":"Sulfatase modifying factor 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.90.1580.10","properties":[{"key":"EntryName","value":"paralog of FGE (formylglycine-generating enzyme)"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR016187","properties":[{"key":"EntryName","value":"CTDL_fold"}]},{"database":"InterPro","id":"IPR051043","properties":[{"key":"EntryName","value":"Sulfatase_Mod_Factor_Kinase"}]},{"database":"InterPro","id":"IPR005532","properties":[{"key":"EntryName","value":"SUMF_dom"}]},{"database":"InterPro","id":"IPR042095","properties":[{"key":"EntryName","value":"SUMF_sf"}]},{"database":"PANTHER","id":"PTHR23150:SF19","properties":[{"key":"EntryName","value":"FORMYLGLYCINE-GENERATING ENZYME"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR23150","properties":[{"key":"EntryName","value":"SULFATASE MODIFYING FACTOR 1, 2"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF03781","properties":[{"key":"EntryName","value":"FGE-sulfatase"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF56436","properties":[{"key":"EntryName","value":"C-type lectin-like"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD","length":374,"molWeight":40556,"crc64":"E64F2DF004C8CEA3","md5":"DB40A42E4E3734A788D40B494C1FB706"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"COFACTOR":1,"BIOPHYSICOCHEMICAL PROPERTIES":1,"PATHWAY":1,"SUBUNIT":1,"INTERACTION":4,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":5,"TISSUE SPECIFICITY":1,"PTM":1,"DISEASE":1,"MISCELLANEOUS":1,"SIMILARITY":1,"CAUTION":1},"countByFeatureType":{"Signal":1,"Chain":1,"Region":2,"Binding site":11,"Glycosylation":1,"Disulfide bond":3,"Alternative sequence":4,"Natural variant":18,"Mutagenesis":6,"Sequence conflict":4,"Beta strand":11,"Helix":11,"Turn":2},"uniParcId":"UPI0000040734"}}