{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q96MK3","secondaryAccessions":["B2RN47","B2RN49","Q9UF95"],"uniProtkbId":"FA20A_HUMAN","entryAudit":{"firstPublicDate":"2003-09-19","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2009-11-24","entryVersion":169,"sequenceVersion":4},"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":"Pseudokinase FAM20A"}},"flag":"Precursor"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:23015"}],"value":"FAM20A"},"orfNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"12975309"}],"value":"UNQ9388/PRO34279"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"value":"Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"value":"Interacts with FAM20C; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q96MK3","intActId":"EBI-11892970"},"interactantTwo":{"uniProtKBAccession":"Q8IXL6","geneName":"FAM20C","intActId":"EBI-7147442"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CID3"}],"value":"Secreted","id":"SL-0243"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23468644"}],"value":"Golgi apparatus","id":"SL-0132"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CID3"}],"value":"Endoplasmic reticulum","id":"SL-0095"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15676076"}],"value":"Highly expressed in lung and liver. Intermediate levels in thymus and ovary"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8CID3"}],"value":"N-glycosylated"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Amelogenesis imperfecta 1G","diseaseAccession":"DI-04208","acronym":"AI1G","description":"A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.","diseaseCrossReference":{"database":"MIM","id":"204690"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21549343"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21990045"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23434854"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23468644"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23697977"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24196488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24259279"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24756937"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25636655"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25827751"}]},"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"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"value":"Although strongly related to other members of the family, lacks the kinase activity. A conserved Asp/Glu residue present in other members of the family, which coordinates the Mn(2+) ion and the ion-pair Lys and is indispensable for kinase activity, is replaced by a Gln in position 258"}],"commentType":"CAUTION"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":33,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":34,"modifier":"EXACT"},"end":{"value":541,"modifier":"EXACT"}},"description":"Pseudokinase FAM20A","featureId":"PRO_0000008743"},{"type":"Region","location":{"start":{"value":38,"modifier":"EXACT"},"end":{"value":90,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":49,"modifier":"EXACT"},"end":{"value":63,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Glycosylation","location":{"start":{"value":70,"modifier":"EXACT"},"end":{"value":70,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":145,"modifier":"EXACT"},"end":{"value":145,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":287,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":388,"modifier":"EXACT"},"end":{"value":388,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":538,"modifier":"EXACT"},"end":{"value":538,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":314,"modifier":"EXACT"},"end":{"value":330,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Disulfide bond","location":{"start":{"value":319,"modifier":"EXACT"},"end":{"value":323,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Disulfide bond","location":{"start":{"value":378,"modifier":"EXACT"},"end":{"value":452,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Disulfide bond","location":{"start":{"value":453,"modifier":"EXACT"},"end":{"value":512,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9XTW2"}]},{"type":"Natural variant","location":{"start":{"value":173,"modifier":"EXACT"},"end":{"value":173,"modifier":"EXACT"}},"description":"in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23434854"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"featureId":"VAR_072170","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":197,"modifier":"EXACT"},"end":{"value":214,"modifier":"EXACT"}},"description":"in AI1G","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21990045"}],"featureId":"VAR_066859","alternativeSequence":{"originalSequence":"DYSQDEKALLGACDCTQI","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":331,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity; dbSNP:rs981673034","featureCrossReferences":[{"database":"dbSNP","id":"rs981673034"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23468644"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"featureId":"VAR_072171","alternativeSequence":{"originalSequence":"G","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":332,"modifier":"EXACT"},"end":{"value":332,"modifier":"EXACT"}},"description":"in dbSNP:rs2302234","featureCrossReferences":[{"database":"dbSNP","id":"rs2302234"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12975309"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_059282","alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":403,"modifier":"EXACT"},"end":{"value":403,"modifier":"EXACT"}},"description":"in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity; dbSNP:rs377432171","featureCrossReferences":[{"database":"dbSNP","id":"rs377432171"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24196488"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"featureId":"VAR_072172","alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":530,"modifier":"EXACT"},"end":{"value":530,"modifier":"EXACT"}},"description":"in dbSNP:rs2907373","featureCrossReferences":[{"database":"dbSNP","id":"rs2907373"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12975309"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17974005"}],"featureId":"VAR_059283","alternativeSequence":{"originalSequence":"L","alternativeSequences":["S"]}},{"type":"Mutagenesis","location":{"start":{"value":258,"modifier":"EXACT"},"end":{"value":258,"modifier":"EXACT"}},"description":"Able to hydrolyze ATP and display some protein kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25789606"}],"alternativeSequence":{"originalSequence":"Q","alternativeSequences":["E"]}},{"type":"Helix","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":97,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":99,"modifier":"EXACT"},"end":{"value":102,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":103,"modifier":"EXACT"},"end":{"value":105,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Turn","location":{"start":{"value":112,"modifier":"EXACT"},"end":{"value":114,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":117,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":119,"modifier":"EXACT"},"end":{"value":143,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":153,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":160,"modifier":"EXACT"},"end":{"value":167,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":172,"modifier":"EXACT"},"end":{"value":174,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":179,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":193,"modifier":"EXACT"},"end":{"value":198,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":200,"modifier":"EXACT"},"end":{"value":203,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":206,"modifier":"EXACT"},"end":{"value":208,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Turn","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":214,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":220,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Beta strand","location":{"start":{"value":224,"modifier":"EXACT"},"end":{"value":228,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":238,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":244,"modifier":"EXACT"},"end":{"value":246,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":252,"modifier":"EXACT"},"end":{"value":254,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":259,"modifier":"EXACT"},"end":{"value":273,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":281,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":289,"modifier":"EXACT"},"end":{"value":293,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":299,"modifier":"EXACT"},"end":{"value":303,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":305,"modifier":"EXACT"},"end":{"value":307,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":313,"modifier":"EXACT"},"end":{"value":316,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":318,"modifier":"EXACT"},"end":{"value":322,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":328,"modifier":"EXACT"},"end":{"value":330,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":332,"modifier":"EXACT"},"end":{"value":342,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":343,"modifier":"EXACT"},"end":{"value":346,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Turn","location":{"start":{"value":347,"modifier":"EXACT"},"end":{"value":349,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":352,"modifier":"EXACT"},"end":{"value":356,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":364,"modifier":"EXACT"},"end":{"value":366,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5YH3"}]},{"type":"Turn","location":{"start":{"value":371,"modifier":"EXACT"},"end":{"value":373,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":376,"modifier":"EXACT"},"end":{"value":381,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Turn","location":{"start":{"value":385,"modifier":"EXACT"},"end":{"value":388,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":390,"modifier":"EXACT"},"end":{"value":406,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":413,"modifier":"EXACT"},"end":{"value":417,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":418,"modifier":"EXACT"},"end":{"value":420,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":424,"modifier":"EXACT"},"end":{"value":426,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Beta strand","location":{"start":{"value":434,"modifier":"EXACT"},"end":{"value":436,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":443,"modifier":"EXACT"},"end":{"value":446,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":447,"modifier":"EXACT"},"end":{"value":452,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":457,"modifier":"EXACT"},"end":{"value":466,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":469,"modifier":"EXACT"},"end":{"value":471,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":473,"modifier":"EXACT"},"end":{"value":481,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Turn","location":{"start":{"value":485,"modifier":"EXACT"},"end":{"value":488,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":492,"modifier":"EXACT"},"end":{"value":516,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]},{"type":"Helix","location":{"start":{"value":518,"modifier":"EXACT"},"end":{"value":521,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"5WRR"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0986","category":"Disease","name":"Amelogenesis imperfecta"},{"id":"KW-0091","category":"Biological process","name":"Biomineralization"},{"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-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-0732","category":"Domain","name":"Signal"}],"references":[{"referenceNumber":1,"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]","VARIANTS LYS-332 AND SER-530"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":2,"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]","VARIANTS LYS-332 AND SER-530"]},{"referenceNumber":3,"citation":{"id":"16625196","citationType":"journal article","authors":["Zody M.C.","Garber M.","Adams D.J.","Sharpe T.","Harrow J.","Lupski J.R.","Nicholson C.","Searle S.M.","Wilming L.","Young S.K.","Abouelleil A.","Allen N.R.","Bi W.","Bloom T.","Borowsky M.L.","Bugalter B.E.","Butler J.","Chang J.L.","Chen C.-K.","Cook A.","Corum B.","Cuomo C.A.","de Jong P.J.","DeCaprio D.","Dewar K.","FitzGerald M.","Gilbert J.","Gibson R.","Gnerre S.","Goldstein S.","Grafham D.V.","Grocock R.","Hafez N.","Hagopian D.S.","Hart E.","Norman C.H.","Humphray S.","Jaffe D.B.","Jones M.","Kamal M.","Khodiyar V.K.","LaButti K.","Laird G.","Lehoczky J.","Liu X.","Lokyitsang T.","Loveland J.","Lui A.","Macdonald P.","Major J.E.","Matthews L.","Mauceli E.","McCarroll S.A.","Mihalev A.H.","Mudge J.","Nguyen C.","Nicol R.","O'Leary S.B.","Osoegawa K.","Schwartz D.C.","Shaw-Smith C.","Stankiewicz P.","Steward C.","Swarbreck D.","Venkataraman V.","Whittaker C.A.","Yang X.","Zimmer A.R.","Bradley A.","Hubbard T.","Birren B.W.","Rogers J.","Lander E.S.","Nusbaum C."],"citationCrossReferences":[{"database":"PubMed","id":"16625196"},{"database":"DOI","id":"10.1038/nature04689"}],"title":"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.","publicationDate":"2006","journal":"Nature","firstPage":"1045","lastPage":"1049","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"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]","VARIANTS LYS-332 AND SER-530"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":5,"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] OF 202-541","VARIANT SER-530"],"referenceComments":[{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":6,"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":7,"citation":{"id":"21549343","citationType":"journal article","authors":["O'Sullivan J.","Bitu C.C.","Daly S.B.","Urquhart J.E.","Barron M.J.","Bhaskar S.S.","Martelli-Junior H.","dos Santos Neto P.E.","Mansilla M.A.","Murray J.C.","Coletta R.D.","Black G.C.","Dixon M.J."],"citationCrossReferences":[{"database":"PubMed","id":"21549343"},{"database":"DOI","id":"10.1016/j.ajhg.2011.04.005"}],"title":"Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.","publicationDate":"2011","journal":"Am. J. Hum. Genet.","firstPage":"616","lastPage":"620","volume":"88"},"referencePositions":["INVOLVEMENT IN AI1G"]},{"referenceNumber":8,"citation":{"id":"23697977","citationType":"journal article","authors":["Cabral R.M.","Kurban M.","Rothman L.","Wajid M.","Shimomura Y.","Petukhova L.","Christiano A.M."],"citationCrossReferences":[{"database":"PubMed","id":"23697977"},{"database":"DOI","id":"10.1038/jhg.2013.44"}],"title":"Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene.","publicationDate":"2013","journal":"J. Hum. Genet.","firstPage":"566","lastPage":"567","volume":"58"},"referencePositions":["INVOLVEMENT IN AI1G"]},{"referenceNumber":9,"citation":{"id":"24259279","citationType":"journal article","authors":["Kantaputra P.N.","Kaewgahya M.","Khemaleelakul U.","Dejkhamron P.","Sutthimethakorn S.","Thongboonkerd V.","Iamaroon A."],"citationCrossReferences":[{"database":"PubMed","id":"24259279"},{"database":"DOI","id":"10.1002/ajmg.a.36187"}],"title":"Enamel-renal-gingival syndrome and FAM20A mutations.","publicationDate":"2014","journal":"Am. J. Med. Genet. A","firstPage":"1","lastPage":"9","volume":"164A"},"referencePositions":["INVOLVEMENT IN AI1G"]},{"referenceNumber":10,"citation":{"id":"24756937","citationType":"journal article","authors":["Kantaputra P.N.","Bongkochwilawan C.","Kaewgahya M.","Ohazama A.","Kayserili H.","Erdem A.P.","Aktoren O.","Guven Y."],"citationCrossReferences":[{"database":"PubMed","id":"24756937"},{"database":"DOI","id":"10.1002/ajmg.a.36579"}],"title":"Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.","publicationDate":"2014","journal":"Am. J. Med. Genet. A","firstPage":"2124","lastPage":"2128","volume":"164A"},"referencePositions":["INVOLVEMENT IN AI1G"]},{"referenceNumber":11,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":12,"citation":{"id":"25827751","citationType":"journal article","authors":["Volodarsky M.","Zilberman U.","Birk O.S."],"citationCrossReferences":[{"database":"PubMed","id":"25827751"},{"database":"DOI","id":"10.1016/j.archoralbio.2015.02.018"}],"title":"Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.","publicationDate":"2015","journal":"Arch. Oral Biol.","firstPage":"919","lastPage":"922","volume":"60"},"referencePositions":["INVOLVEMENT IN AI1G"]},{"referenceNumber":13,"citation":{"id":"25636655","citationType":"journal article","authors":["Cherkaoui Jaouad I.","El Alloussi M.","Chafai El Alaoui S.","Laarabi F.Z.","Lyahyai J.","Sefiani A."],"citationCrossReferences":[{"database":"PubMed","id":"25636655"},{"database":"DOI","id":"10.1186/1472-6831-15-14"}],"title":"Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.","publicationDate":"2015","journal":"BMC Oral Health","firstPage":"14","lastPage":"14","volume":"15"},"referencePositions":["INVOLVEMENT IN AI1G"]},{"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","INTERACTION WITH FAM20C","MUTAGENESIS OF GLN-258","CHARACTERIZATION OF VARIANTS AI1G ARG-173; ASP-331 AND ASN-403"]},{"referenceNumber":15,"citation":{"id":"21990045","citationType":"journal article","authors":["Cho S.H.","Seymen F.","Lee K.E.","Lee S.K.","Kweon Y.S.","Kim K.J.","Jung S.E.","Song S.J.","Yildirim M.","Bayram M.","Tuna E.B.","Gencay K.","Kim J.W."],"citationCrossReferences":[{"database":"PubMed","id":"21990045"},{"database":"DOI","id":"10.1002/humu.21621"}],"title":"Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.","publicationDate":"2012","journal":"Hum. Mutat.","firstPage":"91","lastPage":"94","volume":"33"},"referencePositions":["VARIANT AI1G 197-ASP--ILE-214 DELINS VAL-197"]},{"referenceNumber":16,"citation":{"id":"23434854","citationType":"journal article","authors":["Jaureguiberry G.","De la Dure-Molla M.","Parry D.","Quentric M.","Himmerkus N.","Koike T.","Poulter J.","Klootwijk E.","Robinette S.L.","Howie A.J.","Patel V.","Figueres M.L.","Stanescu H.C.","Issler N.","Nicholson J.K.","Bockenhauer D.","Laing C.","Walsh S.B.","McCredie D.A.","Povey S.","Asselin A.","Picard A.","Coulomb A.","Medlar A.J.","Bailleul-Forestier I.","Verloes A.","Le Caignec C.","Roussey G.","Guiol J.","Isidor B.","Logan C.","Shore R.","Johnson C.","Inglehearn C.","Al-Bahlani S.","Schmittbuhl M.","Clauss F.","Huckert M.","Laugel V.","Ginglinger E.","Pajarola S.","Sparta G.","Bartholdi D.","Rauch A.","Addor M.C.","Yamaguti P.M.","Safatle H.P.","Acevedo A.C.","Martelli-Junior H.","dos Santos Netos P.E.","Coletta R.D.","Gruessel S.","Sandmann C.","Ruehmann D.","Langman C.B.","Scheinman S.J.","Ozdemir-Ozenen D.","Hart T.C.","Hart P.S.","Neugebauer U.","Schlatter E.","Houillier P.","Gahl W.A.","Vikkula M.","Bloch-Zupan A.","Bleich M.","Kitagawa H.","Unwin R.J.","Mighell A.","Berdal A.","Kleta R."],"citationCrossReferences":[{"database":"PubMed","id":"23434854"},{"database":"DOI","id":"10.1159/000349989"}],"title":"Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.","publicationDate":"2012","journal":"Nephron Physiol.","firstPage":"1","lastPage":"6","volume":"122"},"referencePositions":["VARIANT AI1G ARG-173"]},{"referenceNumber":17,"citation":{"id":"23468644","citationType":"journal article","authors":["Wang S.K.","Aref P.","Hu Y.","Milkovich R.N.","Simmer J.P.","El-Khateeb M.","Daggag H.","Baqain Z.H.","Hu J.C."],"citationCrossReferences":[{"database":"PubMed","id":"23468644"},{"database":"DOI","id":"10.1371/journal.pgen.1003302"}],"title":"FAM20A mutations can cause enamel-renal syndrome (ERS).","publicationDate":"2013","journal":"PLoS Genet.","firstPage":"E1003302","lastPage":"E1003302","volume":"9"},"referencePositions":["VARIANT AI1G ASP-331","SUBCELLULAR LOCATION"]},{"referenceNumber":18,"citation":{"id":"24196488","citationType":"journal article","authors":["Wang S.K.","Reid B.M.","Dugan S.L.","Roggenbuck J.A.","Read L.","Aref P.","Taheri A.P.","Yeganeh M.Z.","Simmer J.P.","Hu J.C."],"citationCrossReferences":[{"database":"PubMed","id":"24196488"},{"database":"DOI","id":"10.1177/0022034513512653"}],"title":"FAM20A mutations associated with enamel renal syndrome.","publicationDate":"2014","journal":"J. Dent. Res.","firstPage":"42","lastPage":"48","volume":"93"},"referencePositions":["VARIANT AI1G ASN-403"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AK056789","properties":[{"key":"ProteinId","value":"BAB71285.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AY358197","properties":[{"key":"ProteinId","value":"AAQ88564.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC079210","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC136686","properties":[{"key":"ProteinId","value":"AAI36687.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC136689","properties":[{"key":"ProteinId","value":"AAI36690.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL133105","properties":[{"key":"ProteinId","value":"CAB61412.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS11679.1","properties":[{"key":"Description","value":"-"}]},{"database":"PIR","id":"T42684","properties":[{"key":"EntryName","value":"T42684"}]},{"database":"RefSeq","id":"NP_001230675.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001243746.2"}]},{"database":"RefSeq","id":"NP_060035.2","properties":[{"key":"NucleotideSequenceId","value":"NM_017565.4"}]},{"database":"PDB","id":"5WRR","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.51 A"},{"key":"Chains","value":"A/B=89-526"}]},{"database":"PDB","id":"5WRS","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.75 A"},{"key":"Chains","value":"A/B=89-526"}]},{"database":"PDB","id":"5YH2","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.55 A"},{"key":"Chains","value":"A/B=63-529"}]},{"database":"PDB","id":"5YH3","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"3.30 A"},{"key":"Chains","value":"A/B=63-529"}]},{"database":"PDBsum","id":"5WRR","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5WRS","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5YH2","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5YH3","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"120133","properties":[{"key":"Interactions","value":"1"}]},{"database":"FunCoup","id":"Q96MK3","properties":[{"key":"Number of interactors","value":"207"}]},{"database":"IntAct","id":"Q96MK3","properties":[{"key":"Interactions","value":"5"}]},{"database":"STRING","id":"9606.ENSP00000468308","properties":[{"key":"Description","value":"-"}]},{"database":"GlyCosmos","id":"Q96MK3","properties":[{"key":"glycosylation","value":"7 sites, 1 glycan"}]},{"database":"GlyGen","id":"Q96MK3","properties":[{"key":"glycosylation","value":"8 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)"}]},{"database":"iPTMnet","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"FAM20A","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"269849750","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000468308","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"77370","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"31793","properties":[{"key":"antibodies","value":"112 antibodies from 22 providers"}]},{"database":"DNASU","id":"54757","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000592554.2","properties":[{"key":"ProteinId","value":"ENSP00000468308.1"},{"key":"GeneId","value":"ENSG00000108950.13"}]},{"database":"GeneID","id":"54757","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:54757","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000592554.2","properties":[{"key":"ProteinId","value":"ENSP00000468308.1"},{"key":"RefSeqNucleotideId","value":"NM_017565.4"},{"key":"RefSeqProteinId","value":"NP_060035.2"}]},{"database":"UCSC","id":"uc002jho.4","properties":[{"key":"OrganismName","value":"human"}]},{"database":"AGR","id":"HGNC:23015","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134888583","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"54757","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"54757","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"FAM20A","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:23015","properties":[{"key":"GeneName","value":"FAM20A"}]},{"database":"HPA","id":"ENSG00000108950","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (liver)"}]},{"database":"MalaCards","id":"FAM20A","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"204690","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"611062","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000108950","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"1031","properties":[{"key":"Disease","value":"Enamel-renal syndrome"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000108950","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":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PLTQCCI","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"8583677at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q96MK3","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q96MK3","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":"SignaLink","id":"Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000108950","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"54757","properties":[{"key":"hits","value":"21 hits in 1146 CRISPR screens"}]},{"database":"ChiTaRS","id":"FAM20A","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"FAM20A","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"54757","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q96MK3","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q96MK3","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 17"}]},{"database":"RNAct","id":"Q96MK3","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000108950","properties":[{"key":"ExpressionPatterns","value":"Expressed in right lobe of liver and 128 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q96MK3","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005783","properties":[{"key":"GoTerm","value":"C:endoplasmic reticulum"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0070062","properties":[{"key":"GoTerm","value":"C:extracellular exosome"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"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"}]},{"database":"GO","id":"GO:0005794","properties":[{"key":"GoTerm","value":"C:Golgi apparatus"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23468644"}]},{"database":"GO","id":"GO:0043539","properties":[{"key":"GoTerm","value":"F:protein serine/threonine kinase activator activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25789606"}]},{"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":"25789606"}]},{"database":"GO","id":"GO:0055074","properties":[{"key":"GoTerm","value":"P:calcium ion homeostasis"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23434854"}]},{"database":"GO","id":"GO:0070166","properties":[{"key":"GoTerm","value":"P:enamel mineralization"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"21549343"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"21990045"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23468644"}]},{"database":"GO","id":"GO:0001934","properties":[{"key":"GoTerm","value":"P:positive regulation of protein phosphorylation"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25789606"}]},{"database":"GO","id":"GO:0044691","properties":[{"key":"GoTerm","value":"P:tooth eruption"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"21990045"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23434854"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23468644"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"23697977"}]},{"database":"CDD","id":"cd10469","properties":[{"key":"EntryName","value":"FAM20A_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:SF12","properties":[{"key":"EntryName","value":"PSEUDOKINASE FAM20A"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF06702","properties":[{"key":"EntryName","value":"Fam20C"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHNFSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMYREQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPSGVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPPTVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLAPRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKFGDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVLTEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS","length":541,"molWeight":61417,"crc64":"B44A4655996279A1","md5":"7495A13B0C8982DA2B76087000E7989F"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":1,"SUBCELLULAR LOCATION":1,"TISSUE SPECIFICITY":1,"PTM":1,"DISEASE":1,"SIMILARITY":1,"CAUTION":1},"countByFeatureType":{"Signal":1,"Chain":1,"Region":1,"Compositional bias":1,"Glycosylation":5,"Disulfide bond":4,"Natural variant":6,"Mutagenesis":1,"Helix":26,"Turn":6,"Beta strand":16},"uniParcId":"UPI00001AE65B"}}