{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8IXL6","secondaryAccessions":["A4D2Q5","L8B5W8","Q5I0W9","Q7Z4I0","Q9NPT2"],"uniProtkbId":"FA20C_HUMAN","entryAudit":{"firstPublicDate":"2003-09-19","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2011-04-05","entryVersion":173,"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":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Extracellular serine/threonine protein kinase FAM20C"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29858230"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"2.7.11.1"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q5MJS3"}],"value":"Dentin matrix protein 4"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q5MJS3"}],"value":"DMP-4"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22582013"}],"value":"Golgi casein kinase"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22582013"}],"value":"Golgi-enriched fraction casein kinase"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"22582013"}],"value":"GEF-CK"}]}],"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:22140"}],"value":"FAM20C"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q5MJS3"}],"value":"DMP4"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29858230"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:26091039). Phosphorylates ERO1A, enhancing its activity which is required to maintain endoplasmic reticulum redox homeostasis and for oxidative protein folding (PubMed:29858230, PubMed:34349020). During endoplasmic reticulum stress, phosphorylates P4HB/PDIA1 which induces a functional switch, causing P4HB to change from an oxidoreductase to a molecular chaperone (PubMed:32149426). This is critical to maintain ER proteostasis and reduce cell death under ER stress (PubMed:32149426). Phosphorylation of P4HB also promotes its interaction with ERN1, leading to reduced activity of ERN1, a key sensor for the endoplasmic reticulum unfolded protein response (PubMed:32149426). Required for osteoblast differentiation and mineralization (PubMed:34349020). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1/OPN (PubMed:22582013, PubMed:25789606, PubMed:34349020). In addition to its role in biomineralization, also plays a role in lipid homeostasis, wound healing and cell migration and adhesion (PubMed:26091039)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:17989"},{"database":"Rhea","id":"RHEA-COMP:9863"},{"database":"Rhea","id":"RHEA-COMP:11604"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:29999"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:83421"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"2.7.11.1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29858230"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:46608"},{"database":"Rhea","id":"RHEA-COMP:11060"},{"database":"Rhea","id":"RHEA-COMP:11605"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30013"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:61977"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"2.7.11.1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}]}},{"commentType":"COFACTOR","cofactors":[{"name":"Mn(2+)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"22582013"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:29035"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"value":"Serine/threonine protein kinase activity is increased upon interaction with FAM20A"}],"commentType":"ACTIVITY REGULATION"},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"michaelisConstants":[{"constant":0.8,"unit":"uM","substrate":"manganese/ATP","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}]}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Homodimer; disulfide-linked (PubMed:34349020). Interacts with FAM20A; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C (PubMed:25789606). Interacts with protease MBTPS1/S1P; the interaction results in FAM20C cleavage and secretion (PubMed:34349020). Interacts with COPII components SEC23A and SEC24A; transport of FAM20C from the endoplasmic reticulum to the Golgi is likely to be mediated by COPII vesicles (PubMed:34349020)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"Q9NP70","geneName":"AMBN","intActId":"EBI-11893530"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"Q6UX39","geneName":"AMTN","intActId":"EBI-11892684"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"O14791","geneName":"APOL1","intActId":"EBI-1221934"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P05060","geneName":"CHGB","intActId":"EBI-712619"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"Q9NRM1","geneName":"ENAM","intActId":"EBI-11892601"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"Q96MK3","geneName":"FAM20A","intActId":"EBI-11892970"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P02671","geneName":"FGA","intActId":"EBI-348571"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P08833","geneName":"IGFBP1","intActId":"EBI-13646303"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P02810","geneName":"PRH2","intActId":"EBI-738601"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P01008","geneName":"SERPINC1","intActId":"EBI-1039832"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P10451","geneName":"SPP1","intActId":"EBI-723648"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P10451","geneName":"SPP1","chainId":"PRO_0000020321","intActId":"EBI-11893188"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q8IXL6","intActId":"EBI-7147442"},"interactantTwo":{"uniProtKBAccession":"P02666","geneName":"CSN2","intActId":"EBI-5260183"},"numberOfExperiments":3,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Resides in the Golgi apparatus membrane and is secreted following propeptide cleavage (PubMed:34349020). Retained in the endoplasmic reticulum (ER) in response to ER stress where it phosphorylates P4HB (PubMed:32149426)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Golgi apparatus membrane","id":"SL-0134"},"topology":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Single-pass type II membrane protein","id":"SL-9906"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"value":"Secreted","id":"SL-0243"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q8IXL6-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q8IXL6-2"],"sequenceIds":["VSP_040834"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15676076"}],"value":"Widely expressed"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"26091039"}],"value":"N-glycosylation is required for folding"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Autophosphorylated"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"value":"Propeptide cleavage by MBTPS1/S1P promotes FAM20C secretion and maximal kinase activity which is essential for efficient osteoblast differentiation and biomineralization"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Raine syndrome","diseaseAccession":"DI-02244","acronym":"RNS","description":"An autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome, although some patients survive into childhood. Clinical features include generalized increase in the density of all bones and a marked increase in the ossification of the skull, craniofacial dysplasia and microcephaly.","diseaseCrossReference":{"database":"MIM","id":"259775"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17924334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}]},"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 FAM20 family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAH40074.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"EAL23705.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Propeptide","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":92,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"featureId":"PRO_0000433883"},{"type":"Chain","location":{"start":{"value":93,"modifier":"EXACT"},"end":{"value":584,"modifier":"EXACT"}},"description":"Extracellular serine/threonine protein kinase FAM20C","featureId":"PRO_0000008747"},{"type":"Topological domain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":10,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000305"}]},{"type":"Transmembrane","location":{"start":{"value":11,"modifier":"EXACT"},"end":{"value":31,"modifier":"EXACT"}},"description":"Helical; Signal-anchor for type II membrane protein","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":32,"modifier":"EXACT"},"end":{"value":584,"modifier":"EXACT"}},"description":"Lumenal","evidences":[{"evidenceCode":"ECO:0000305"}]},{"type":"Region","location":{"start":{"value":62,"modifier":"EXACT"},"end":{"value":81,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":159,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":354,"modifier":"EXACT"},"end":{"value":565,"modifier":"EXACT"}},"description":"Kinase domain","evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"22582013"}]},{"type":"Compositional bias","location":{"start":{"value":71,"modifier":"EXACT"},"end":{"value":81,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":95,"modifier":"EXACT"},"end":{"value":112,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":116,"modifier":"EXACT"},"end":{"value":149,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Active site","location":{"start":{"value":458,"modifier":"EXACT"},"end":{"value":458,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}]},{"type":"Binding site","location":{"start":{"value":269,"modifier":"EXACT"},"end":{"value":269,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":285,"modifier":"EXACT"},"end":{"value":285,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":306,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":306,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29035"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"Mn(2+)","id":"ChEBI:CHEBI:29035"}},{"type":"Binding site","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":392,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":463,"modifier":"EXACT"},"end":{"value":463,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":478,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":478,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:29035"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"22582013"}],"ligand":{"name":"Mn(2+)","id":"ChEBI:CHEBI:29035"}},{"type":"Site","location":{"start":{"value":92,"modifier":"EXACT"},"end":{"value":93,"modifier":"EXACT"}},"description":"Cleavage; by MBTPS1","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}]},{"type":"Modified residue","location":{"start":{"value":106,"modifier":"EXACT"},"end":{"value":106,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}]},{"type":"Glycosylation","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":101,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":335,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":470,"modifier":"EXACT"},"end":{"value":470,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19159218"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":46,"modifier":"EXACT"},"end":{"value":46,"modifier":"EXACT"}},"description":"Interchain","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}]},{"type":"Disulfide bond","location":{"start":{"value":48,"modifier":"EXACT"},"end":{"value":48,"modifier":"EXACT"}},"description":"Interchain","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}]},{"type":"Disulfide bond","location":{"start":{"value":362,"modifier":"EXACT"},"end":{"value":378,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Disulfide bond","location":{"start":{"value":367,"modifier":"EXACT"},"end":{"value":371,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Disulfide bond","location":{"start":{"value":426,"modifier":"EXACT"},"end":{"value":500,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Disulfide bond","location":{"start":{"value":501,"modifier":"EXACT"},"end":{"value":560,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":332,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_040834","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":258,"modifier":"EXACT"},"end":{"value":258,"modifier":"EXACT"}},"description":"in RNS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_073660","alternativeSequence":{"originalSequence":"I","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":268,"modifier":"EXACT"},"end":{"value":268,"modifier":"EXACT"}},"description":"in RNS; mild non-lethal form; decreased protein kinase activity; dbSNP:rs778899041","featureCrossReferences":[{"database":"dbSNP","id":"rs778899041"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"featureId":"VAR_073661","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":280,"modifier":"EXACT"},"end":{"value":280,"modifier":"EXACT"}},"description":"in RNS; dbSNP:rs779708323","featureCrossReferences":[{"database":"dbSNP","id":"rs779708323"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_073662","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":328,"modifier":"EXACT"},"end":{"value":328,"modifier":"EXACT"}},"description":"in RNS; mild non-lethal form; decreased protein kinase activity; FAM20A is still able to increase remaining protein kinase activity; dbSNP:rs797044462","featureCrossReferences":[{"database":"dbSNP","id":"rs797044462"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"featureId":"VAR_073663","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":379,"modifier":"EXACT"},"end":{"value":379,"modifier":"EXACT"}},"description":"in RNS; dbSNP:rs796051852","featureCrossReferences":[{"database":"dbSNP","id":"rs796051852"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17924334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_037530","alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":379,"modifier":"EXACT"},"end":{"value":379,"modifier":"EXACT"}},"description":"in RNS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17924334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_037531","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":388,"modifier":"EXACT"},"end":{"value":388,"modifier":"EXACT"}},"description":"in RNS; dbSNP:rs796051849","featureCrossReferences":[{"database":"dbSNP","id":"rs796051849"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17924334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_037532","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":451,"modifier":"EXACT"},"end":{"value":451,"modifier":"EXACT"}},"description":"in RNS; mild non-lethal form; decreased protein kinase activity","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_073664","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":549,"modifier":"EXACT"},"end":{"value":549,"modifier":"EXACT"}},"description":"in RNS; dbSNP:rs796051850","featureCrossReferences":[{"database":"dbSNP","id":"rs796051850"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17924334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"}],"featureId":"VAR_037533","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Mutagenesis","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":31,"modifier":"EXACT"}},"description":"Loss of membrane localization with more efficient secretion and loss of propeptide cleavage. Reduced oligomerization.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"DLLP","alternativeSequences":["AAAA"]}},{"type":"Mutagenesis","location":{"start":{"value":46,"modifier":"EXACT"},"end":{"value":46,"modifier":"EXACT"}},"description":"No effect on homodimer formation. Complete disruption of homodimer formation but no effect on secretion; when associated with S-48.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["S"]}},{"type":"Mutagenesis","location":{"start":{"value":48,"modifier":"EXACT"},"end":{"value":48,"modifier":"EXACT"}},"description":"No effect on homodimer formation. Complete disruption of homodimer formation but no effect on secretion; when associated with S-46.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["S"]}},{"type":"Mutagenesis","location":{"start":{"value":89,"modifier":"EXACT"},"end":{"value":89,"modifier":"EXACT"}},"description":"Impaired secretion. Loss of ability to promote osteoblast differentiation; when associated with A-92.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":90,"modifier":"EXACT"},"end":{"value":90,"modifier":"EXACT"}},"description":"No effect on secretion.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"I","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":93,"modifier":"EXACT"}},"description":"No effect on secretion or activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"alternativeSequence":{"originalSequence":"LQD","alternativeSequences":["AAA"]}},{"type":"Mutagenesis","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":91,"modifier":"EXACT"}},"description":"Impaired secretion.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["S"]}},{"type":"Mutagenesis","location":{"start":{"value":92,"modifier":"EXACT"},"end":{"value":92,"modifier":"EXACT"}},"description":"Impaired secretion. Loss of ability to promote osteoblast differentiation; when associated with A-89.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"Q","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":101,"modifier":"EXACT"}},"description":"Impaired secretion; when associated with A-335 and A-470.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":106,"modifier":"EXACT"},"end":{"value":106,"modifier":"EXACT"}},"description":"Abolishes phosphorylation.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":271,"modifier":"EXACT"},"end":{"value":271,"modifier":"EXACT"}},"description":"Reduced kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":285,"modifier":"EXACT"},"end":{"value":285,"modifier":"EXACT"}},"description":"Reduced kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":306,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"Strongly reduced kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["A","Q"]}},{"type":"Mutagenesis","location":{"start":{"value":311,"modifier":"EXACT"},"end":{"value":311,"modifier":"EXACT"}},"description":"Reduced kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":335,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"Impaired secretion; when associated with A-101 and A-470.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":408,"modifier":"EXACT"},"end":{"value":408,"modifier":"EXACT"}},"description":"Reduced kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":458,"modifier":"EXACT"},"end":{"value":458,"modifier":"EXACT"}},"description":"Abrogates kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":470,"modifier":"EXACT"},"end":{"value":470,"modifier":"EXACT"}},"description":"Impaired secretion; when associated with A-101 and A-335.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["A"]}},{"type":"Mutagenesis","location":{"start":{"value":478,"modifier":"EXACT"},"end":{"value":478,"modifier":"EXACT"}},"description":"Unable to bind manganese. Abrogates kinase activity. Loss of ERO1A phosphorylation. Loss of autophosphorylation. Loss of ability to promote osteoblast differentiation.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26091039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29858230"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":274,"modifier":"EXACT"},"end":{"value":288,"modifier":"EXACT"}},"description":"in Ref. 6; CAB99089","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"MTFQNYGQALFKPMK","alternativeSequences":["FLSDKPFLFLSCFLR"]}},{"type":"Sequence conflict","location":{"start":{"value":564,"modifier":"EXACT"},"end":{"value":564,"modifier":"EXACT"}},"description":"in Ref. 5; AAH87853 and 6; CAB99089","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["D"]}},{"type":"Helix","location":{"start":{"value":160,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":168,"modifier":"EXACT"},"end":{"value":170,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":173,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":181,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":182,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":225,"modifier":"EXACT"},"end":{"value":231,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":237,"modifier":"EXACT"},"end":{"value":239,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":244,"modifier":"EXACT"},"end":{"value":255,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":258,"modifier":"EXACT"},"end":{"value":263,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":272,"modifier":"EXACT"},"end":{"value":276,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":281,"modifier":"EXACT"},"end":{"value":286,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":301,"modifier":"EXACT"},"end":{"value":303,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":308,"modifier":"EXACT"},"end":{"value":320,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":329,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":336,"modifier":"EXACT"},"end":{"value":340,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":341,"modifier":"EXACT"},"end":{"value":343,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":347,"modifier":"EXACT"},"end":{"value":350,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":361,"modifier":"EXACT"},"end":{"value":363,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":368,"modifier":"EXACT"},"end":{"value":370,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":373,"modifier":"EXACT"},"end":{"value":375,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":380,"modifier":"EXACT"},"end":{"value":390,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":391,"modifier":"EXACT"},"end":{"value":394,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":419,"modifier":"EXACT"},"end":{"value":421,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":423,"modifier":"EXACT"},"end":{"value":425,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":426,"modifier":"EXACT"},"end":{"value":429,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":433,"modifier":"EXACT"},"end":{"value":436,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":438,"modifier":"EXACT"},"end":{"value":454,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":461,"modifier":"EXACT"},"end":{"value":463,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":467,"modifier":"EXACT"},"end":{"value":470,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":494,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":495,"modifier":"EXACT"},"end":{"value":500,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":505,"modifier":"EXACT"},"end":{"value":513,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":517,"modifier":"EXACT"},"end":{"value":519,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":521,"modifier":"EXACT"},"end":{"value":528,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":530,"modifier":"EXACT"},"end":{"value":534,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Helix","location":{"start":{"value":540,"modifier":"EXACT"},"end":{"value":564,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":567,"modifier":"EXACT"},"end":{"value":569,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"id":"KW-0091","category":"Biological process","name":"Biomineralization"},{"id":"KW-0106","category":"Ligand","name":"Calcium"},{"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-0333","category":"Cellular component","name":"Golgi apparatus"},{"id":"KW-0418","category":"Molecular function","name":"Kinase"},{"id":"KW-0464","category":"Ligand","name":"Manganese"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0479","category":"Ligand","name":"Metal-binding"},{"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0964","category":"Cellular component","name":"Secreted"},{"id":"KW-0723","category":"Molecular function","name":"Serine/threonine-protein kinase"},{"id":"KW-0735","category":"Domain","name":"Signal-anchor"},{"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"}],"references":[{"referenceNumber":1,"citation":{"id":"CI-EB1PS1GRQV6JF","citationType":"submission","authors":["Wu C.","Ding P.","Han W.","Rui M.","Wang Y.","Song Q.","Ma D."],"publicationDate":"JUL-2002","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"CI-2UPJ9KJ7HAPDC","citationType":"submission","authors":["Kitagawa H.","Izumikawa T.","Koike T."],"title":"Molecular cloning and characterization of a novel xylosylkinase.","publicationDate":"FEB-2010","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA]"]},{"referenceNumber":3,"citation":{"id":"12853948","citationType":"journal article","authors":["Hillier L.W.","Fulton R.S.","Fulton L.A.","Graves T.A.","Pepin K.H.","Wagner-McPherson C.","Layman D.","Maas J.","Jaeger S.","Walker R.","Wylie K.","Sekhon M.","Becker M.C.","O'Laughlin M.D.","Schaller M.E.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Cordes M.","Du H.","Sun H.","Edwards J.","Bradshaw-Cordum H.","Ali J.","Andrews S.","Isak A.","Vanbrunt A.","Nguyen C.","Du F.","Lamar B.","Courtney L.","Kalicki J.","Ozersky P.","Bielicki L.","Scott K.","Holmes A.","Harkins R.","Harris A.","Strong C.M.","Hou S.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Leonard S.","Rohlfing T.","Rock S.M.","Tin-Wollam A.-M.","Abbott A.","Minx P.","Maupin R.","Strowmatt C.","Latreille P.","Miller N.","Johnson D.","Murray J.","Woessner J.P.","Wendl M.C.","Yang S.-P.","Schultz B.R.","Wallis J.W.","Spieth J.","Bieri T.A.","Nelson J.O.","Berkowicz N.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Bedell J.A.","Mardis E.R.","Clifton S.W.","Chissoe S.L.","Marra M.A.","Raymond C.","Haugen E.","Gillett W.","Zhou Y.","James R.","Phelps K.","Iadanoto S.","Bubb K.","Simms E.","Levy R.","Clendenning J.","Kaul R.","Kent W.J.","Furey T.S.","Baertsch R.A.","Brent M.R.","Keibler E.","Flicek P.","Bork P.","Suyama M.","Bailey J.A.","Portnoy M.E.","Torrents D.","Chinwalla A.T.","Gish W.R.","Eddy S.R.","McPherson J.D.","Olson M.V.","Eichler E.E.","Green E.D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"12853948"},{"database":"DOI","id":"10.1038/nature01782"}],"title":"The DNA sequence of human chromosome 7.","publicationDate":"2003","journal":"Nature","firstPage":"157","lastPage":"164","volume":"424"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"12690205","citationType":"journal article","authors":["Scherer S.W.","Cheung J.","MacDonald J.R.","Osborne L.R.","Nakabayashi K.","Herbrick J.-A.","Carson A.R.","Parker-Katiraee L.","Skaug J.","Khaja R.","Zhang J.","Hudek A.K.","Li M.","Haddad M.","Duggan G.E.","Fernandez B.A.","Kanematsu E.","Gentles S.","Christopoulos C.C.","Choufani S.","Kwasnicka D.","Zheng X.H.","Lai Z.","Nusskern D.R.","Zhang Q.","Gu Z.","Lu F.","Zeesman S.","Nowaczyk M.J.","Teshima I.","Chitayat D.","Shuman C.","Weksberg R.","Zackai E.H.","Grebe T.A.","Cox S.R.","Kirkpatrick S.J.","Rahman N.","Friedman J.M.","Heng H.H.Q.","Pelicci P.G.","Lo-Coco F.","Belloni E.","Shaffer L.G.","Pober B.","Morton C.C.","Gusella J.F.","Bruns G.A.P.","Korf B.R.","Quade B.J.","Ligon A.H.","Ferguson H.","Higgins A.W.","Leach N.T.","Herrick S.R.","Lemyre E.","Farra C.G.","Kim H.-G.","Summers A.M.","Gripp K.W.","Roberts W.","Szatmari P.","Winsor E.J.T.","Grzeschik K.-H.","Teebi A.","Minassian B.A.","Kere J.","Armengol L.","Pujana M.A.","Estivill X.","Wilson M.D.","Koop B.F.","Tosi S.","Moore G.E.","Boright A.P.","Zlotorynski E.","Kerem B.","Kroisel P.M.","Petek E.","Oscier D.G.","Mould S.J.","Doehner H.","Doehner K.","Rommens J.M.","Vincent J.B.","Venter J.C.","Li P.W.","Mural R.J.","Adams M.D.","Tsui L.-C."],"citationCrossReferences":[{"database":"PubMed","id":"12690205"},{"database":"DOI","id":"10.1126/science.1083423"}],"title":"Human chromosome 7: DNA sequence and biology.","publicationDate":"2003","journal":"Science","firstPage":"767","lastPage":"772","volume":"300"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":5,"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] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"CI-56FT96O07V0QG","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton 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":8,"citation":{"id":"26091039","citationType":"journal article","authors":["Tagliabracci V.S.","Wiley S.E.","Guo X.","Kinch L.N.","Durrant E.","Wen J.","Xiao J.","Cui J.","Nguyen K.B.","Engel J.L.","Coon J.J.","Grishin N.","Pinna L.A.","Pagliarini D.J.","Dixon J.E."],"citationCrossReferences":[{"database":"PubMed","id":"26091039"},{"database":"DOI","id":"10.1016/j.cell.2015.05.028"}],"title":"A single kinase generates the majority of the secreted phosphoproteome.","publicationDate":"2015","journal":"Cell","firstPage":"1619","lastPage":"1632","volume":"161"},"referencePositions":["PROTEIN SEQUENCE OF N-TERMINUS","FUNCTION","SUBCELLULAR LOCATION","AUTOPHOSPHORYLATION","GLYCOSYLATION AT ASN-101; ASN-335 AND ASN-470","MUTAGENESIS OF 93-LEU--ASP-95; ASN-101; ASN-335; ASN-470 AND ASP-478"]},{"referenceNumber":9,"citation":{"id":"34349020","citationType":"journal article","authors":["Chen X.","Zhang J.","Liu P.","Wei Y.","Wang X.","Xiao J.","Wang C.C.","Wang L."],"citationCrossReferences":[{"database":"PubMed","id":"34349020"},{"database":"DOI","id":"10.1073/pnas.2100133118"}],"title":"Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.","publicationDate":"2021","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"0","lastPage":"0","volume":"118"},"referencePositions":["PROTEIN SEQUENCE OF N-TERMINUS","FUNCTION","CATALYTIC ACTIVITY","SUBUNIT","INTERACTION WITH MBTPS1; SEC23A AND SEC24A","SUBCELLULAR LOCATION","TOPOLOGY","AUTOPHOSPHORYLATION","PHOSPHORYLATION AT SER-106","MUTAGENESIS OF 28-ASP--PRO-31; CYS-46; CYS-48; ARG-89; ILE-90; LEU-91; GLN-92; SER-106 AND ASP-478"]},{"referenceNumber":10,"citation":{"id":"15676076","citationType":"journal article","authors":["Nalbant D.","Youn H.","Nalbant S.I.","Sharma S.","Cobos E.","Beale E.G.","Du Y.","Williams S.C."],"citationCrossReferences":[{"database":"PubMed","id":"15676076"},{"database":"DOI","id":"10.1186/1471-2164-6-11"}],"title":"FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.","publicationDate":"2005","journal":"BMC Genomics","firstPage":"11","lastPage":"11","volume":"6"},"referencePositions":["TISSUE SPECIFICITY"]},{"referenceNumber":11,"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-470"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":12,"citation":{"id":"22582013","citationType":"journal article","authors":["Tagliabracci V.S.","Engel J.L.","Wen J.","Wiley S.E.","Worby C.A.","Kinch L.N.","Xiao J.","Grishin N.V.","Dixon J.E."],"citationCrossReferences":[{"database":"PubMed","id":"22582013"},{"database":"DOI","id":"10.1126/science.1217817"}],"title":"Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.","publicationDate":"2012","journal":"Science","firstPage":"1150","lastPage":"1153","volume":"336"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","MANGANESE-BINDING","MUTAGENESIS OF ASP-478","VARIANTS RNS ASN-258; ARG-280; SER-328; ARG-379; GLU-379; ARG-388; ASN-451 AND TRP-549","CHARACTERIZATION OF VARIANTS RNS SER-328 AND ASN-451"]},{"referenceNumber":13,"citation":{"id":"23754375","citationType":"journal article","authors":["Xiao J.","Tagliabracci V.S.","Wen J.","Kim S.A.","Dixon J.E."],"citationCrossReferences":[{"database":"PubMed","id":"23754375"},{"database":"DOI","id":"10.1073/pnas.1309211110"}],"title":"Crystal structure of the Golgi casein kinase.","publicationDate":"2013","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10574","lastPage":"10579","volume":"110"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","BIOPHYSICOCHEMICAL PROPERTIES","COFACTOR","ACTIVE SITE","MUTAGENESIS OF LYS-271; LYS-285; GLU-306; GLU-311; ARG-408; ASP-458 AND ASP-458"]},{"referenceNumber":14,"citation":{"id":"25789606","citationType":"journal article","authors":["Cui J.","Xiao J.","Tagliabracci V.S.","Wen J.","Rahdar M.","Dixon J.E."],"citationCrossReferences":[{"database":"PubMed","id":"25789606"},{"database":"DOI","id":"10.7554/elife.06120"}],"title":"A secretory kinase complex regulates extracellular protein phosphorylation.","publicationDate":"2015","journal":"Elife","firstPage":"0","lastPage":"0","volume":"4"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","ACTIVITY REGULATION","INTERACTION WITH FAM20A","MUTAGENESIS OF GLU-306 AND ASP-478","VARIANTS RNS MET-268 AND SER-328","CHARACTERIZATION OF VARIANTS RNS MET-268 AND SER-328"]},{"referenceNumber":15,"citation":{"id":"29858230","citationType":"journal article","authors":["Zhang J.","Zhu Q.","Wang X.","Yu J.","Chen X.","Wang J.","Wang X.","Xiao J.","Wang C.C.","Wang L."],"citationCrossReferences":[{"database":"PubMed","id":"29858230"},{"database":"DOI","id":"10.15252/embj.201798699"}],"title":"Secretory kinase Fam20C tunes endoplasmic reticulum redox state via phosphorylation of Ero1alpha.","publicationDate":"2018","journal":"EMBO J.","firstPage":"0","lastPage":"0","volume":"37"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","MUTAGENESIS OF ASP-478"]},{"referenceNumber":16,"citation":{"id":"32149426","citationType":"journal article","authors":["Yu J.","Li T.","Liu Y.","Wang X.","Zhang J.","Wang X.","Shi G.","Lou J.","Wang L.","Wang C.C.","Wang L."],"citationCrossReferences":[{"database":"PubMed","id":"32149426"},{"database":"DOI","id":"10.15252/embj.2019103841"}],"title":"Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress.","publicationDate":"2020","journal":"EMBO J.","firstPage":"e103841","lastPage":"e103841","volume":"39"},"referencePositions":["FUNCTION","CATALYTIC ACTIVITY","SUBCELLULAR LOCATION"]},{"referenceNumber":17,"citation":{"id":"17924334","citationType":"journal article","authors":["Simpson M.A.","Hsu R.","Keir L.S.","Hao J.","Sivapalan G.","Ernst L.M.","Zackai E.H.","Al-Gazali L.I.","Hulskamp G.","Kingston H.M.","Prescott T.E.","Ion A.","Patton M.A.","Murday V.","George A.","Crosby A.H."],"citationCrossReferences":[{"database":"PubMed","id":"17924334"},{"database":"DOI","id":"10.1086/522240"}],"title":"Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.","publicationDate":"2007","journal":"Am. J. Hum. Genet.","firstPage":"906","lastPage":"912","volume":"81"},"referencePositions":["VARIANTS RNS ARG-379; GLU-379; ARG-388 AND TRP-549"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AF533706","properties":[{"key":"ProteinId","value":"AAQ09019.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB545605","properties":[{"key":"ProteinId","value":"BAM78534.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC093627","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC145676","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC187652","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH236966","properties":[{"key":"ProteinId","value":"EAL23705.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471144","properties":[{"key":"ProteinId","value":"EAW87149.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC040074","properties":[{"key":"ProteinId","value":"AAH40074.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC087853","properties":[{"key":"ProteinId","value":"AAH87853.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL390147","properties":[{"key":"ProteinId","value":"CAB99089.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS47522.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8IXL6-1"},{"database":"PIR","id":"T51872","properties":[{"key":"EntryName","value":"T51872"}]},{"database":"RefSeq","id":"NP_064608.2","properties":[{"key":"NucleotideSequenceId","value":"NM_020223.4"}],"isoformId":"Q8IXL6-1"},{"database":"PDB","id":"5YH3","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.30 A"},{"key":"Chains","value":"C/D=141-578"}]},{"database":"PDBsum","id":"5YH3","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"121294","properties":[{"key":"Interactions","value":"194"}]},{"database":"FunCoup","id":"Q8IXL6","properties":[{"key":"Number of interactors","value":"512"}]},{"database":"IntAct","id":"Q8IXL6","properties":[{"key":"Interactions","value":"79"}]},{"database":"MINT","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-FAM20C","properties":[{"key":"Evidences","value":"2 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000322323","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL4879492","properties":[{"key":"Description","value":"-"}]},{"database":"GlyConnect","id":"Q8IXL6","properties":[{"key":"glycosylation","value":"11 N-Linked glycans (2 sites)"}]},{"database":"GlyCosmos","id":"Q8IXL6","properties":[{"key":"glycosylation","value":"8 sites, 12 glycans"}]},{"database":"GlyGen","id":"Q8IXL6","properties":[{"key":"glycosylation","value":"12 sites, 26 N-linked glycans (3 sites), 2 O-linked glycans (9 sites)"}]},{"database":"iPTMnet","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"FAM20C","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"327478506","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000322323","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"71022","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8IXL6-1"},{"database":"ProteomicsDB","id":"71023","properties":[{"key":"Description","value":"-"}],"isoformId":"Q8IXL6-2"},{"database":"Antibodypedia","id":"5456","properties":[{"key":"antibodies","value":"151 antibodies from 25 providers"}]},{"database":"DNASU","id":"56975","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000313766.6","properties":[{"key":"ProteinId","value":"ENSP00000322323.5"},{"key":"GeneId","value":"ENSG00000177706.10"}],"isoformId":"Q8IXL6-1"},{"database":"Ensembl","id":"ENST00000672066.1","properties":[{"key":"ProteinId","value":"ENSP00000499851.1"},{"key":"GeneId","value":"ENSG00000288499.1"}],"isoformId":"Q8IXL6-1"},{"database":"GeneID","id":"56975","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:56975","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000313766.6","properties":[{"key":"ProteinId","value":"ENSP00000322323.5"},{"key":"RefSeqNucleotideId","value":"NM_020223.4"},{"key":"RefSeqProteinId","value":"NP_064608.2"}]},{"database":"UCSC","id":"uc003sip.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q8IXL6-1"},{"database":"AGR","id":"HGNC:22140","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134898453","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"56975","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"56975","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"FAM20C","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:22140","properties":[{"key":"GeneName","value":"FAM20C"}]},{"database":"HPA","id":"ENSG00000177706","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"FAM20C","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"259775","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"611061","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000177706","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"1832","properties":[{"key":"Disease","value":"Osteosclerotic bone dysplasia"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000177706","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3829","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00950000182951","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_028926_2_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AAENQDW","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8583677at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q8IXL6","properties":[{"key":"Number of GO annotations","value":"3 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-381426","properties":[{"key":"PathwayName","value":"Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)"}]},{"database":"Reactome","id":"R-HSA-8957275","properties":[{"key":"PathwayName","value":"Post-translational protein phosphorylation"}]},{"database":"SABIO-RK","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000177706","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"56975","properties":[{"key":"hits","value":"16 hits in 1160 CRISPR screens"}]},{"database":"GeneWiki","id":"FAM20C","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"56975","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q8IXL6","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q8IXL6","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 7"}]},{"database":"RNAct","id":"Q8IXL6","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000177706","properties":[{"key":"ExpressionPatterns","value":"Expressed in right lobe of liver and 99 other cell types or tissues"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"}]},{"database":"GO","id":"GO:0005788","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum lumen"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0070062","properties":[{"key":"GoTerm","value":"C:extracellular exosome"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0007005","source":"PubMed","id":"19056867"},{"evidenceCode":"ECO:0007005","source":"PubMed","id":"19199708"}]},{"database":"GO","id":"GO:0005576","properties":[{"key":"GoTerm","value":"C:extracellular region"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"34349020"}]},{"database":"GO","id":"GO:0005794","properties":[{"key":"GoTerm","value":"C:Golgi apparatus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22582013"}]},{"database":"GO","id":"GO:0000139","properties":[{"key":"GoTerm","value":"C:Golgi membrane"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"34349020"}]},{"database":"GO","id":"GO:0005509","properties":[{"key":"GoTerm","value":"F:calcium ion binding"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0030145","properties":[{"key":"GoTerm","value":"F:manganese ion binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"23754375"}]},{"database":"GO","id":"GO:0002020","properties":[{"key":"GoTerm","value":"F:protease binding"},{"key":"GoEvidenceType","value":"IPI:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"34349020"}]},{"database":"GO","id":"GO:0004672","properties":[{"key":"GoTerm","value":"F:protein kinase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"34349020"}]},{"database":"GO","id":"GO:0106310","properties":[{"key":"GoTerm","value":"F:protein serine kinase activity"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29858230"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32149426"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34349020"}]},{"database":"GO","id":"GO:0004674","properties":[{"key":"GoTerm","value":"F:protein serine/threonine kinase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26091039"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"29858230"}]},{"database":"GO","id":"GO:0031214","properties":[{"key":"GoTerm","value":"P:biomineral tissue development"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"22582013"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"25789606"}]},{"database":"GO","id":"GO:0070166","properties":[{"key":"GoTerm","value":"P:enamel mineralization"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0043687","properties":[{"key":"GoTerm","value":"P:post-translational protein modification"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0006468","properties":[{"key":"GoTerm","value":"P:protein phosphorylation"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"23754375"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"26091039"}]},{"database":"CDD","id":"cd10471","properties":[{"key":"EntryName","value":"FAM20C_C"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR024869","properties":[{"key":"EntryName","value":"FAM20"}]},{"database":"InterPro","id":"IPR009581","properties":[{"key":"EntryName","value":"FAM20_C"}]},{"database":"PANTHER","id":"PTHR12450","properties":[{"key":"EntryName","value":"DENTIN MATRIX PROTEIN 4 PROTEIN FAM20"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR12450:SF11","properties":[{"key":"EntryName","value":"EXTRACELLULAR SERINE_THREONINE PROTEIN KINASE FAM20C"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF06702","properties":[{"key":"EntryName","value":"Fam20C"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASLLARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYSRHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNGRGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDCVERNGLHSVVDDDLDTEHRAASAR","length":584,"molWeight":66234,"crc64":"ECD278B5EA681FEF","md5":"19C0B491AFA519FBC32584E80BCE2F5F"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":2,"COFACTOR":1,"ACTIVITY REGULATION":1,"BIOPHYSICOCHEMICAL PROPERTIES":1,"SUBUNIT":1,"INTERACTION":13,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"TISSUE SPECIFICITY":1,"PTM":3,"DISEASE":1,"SIMILARITY":1,"SEQUENCE CAUTION":2},"countByFeatureType":{"Propeptide":1,"Chain":1,"Topological domain":2,"Transmembrane":1,"Region":3,"Compositional bias":3,"Active site":1,"Binding site":8,"Site":1,"Modified residue":1,"Glycosylation":3,"Disulfide bond":6,"Alternative sequence":1,"Natural variant":9,"Mutagenesis":19,"Sequence conflict":2,"Helix":19,"Turn":7,"Beta strand":11},"uniParcId":"UPI00001B5C04"}}