{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9Y4X0","secondaryAccessions":["Q5JYV9","Q6P9D8","Q8WX22","Q9UIQ8"],"uniProtkbId":"AMMR1_HUMAN","entryAudit":{"firstPublicDate":"2003-10-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1999-11-01","entryVersion":179,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Nuclear protein AMMECR1"}},"alternativeNames":[{"fullName":{"value":"AMME syndrome candidate gene 1 protein"}}]},"genes":[{"geneName":{"value":"AMMECR1"}}],"comments":[{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"Q6UY14-3","geneName":"ADAMTSL4","intActId":"EBI-10173507"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"Q13137","geneName":"CALCOCO2","intActId":"EBI-739580"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"O95967","geneName":"EFEMP2","intActId":"EBI-743414"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"P60410","geneName":"KRTAP10-8","intActId":"EBI-10171774"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"O75581","geneName":"LRP6","intActId":"EBI-910915"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"Q93062","geneName":"RBPMS","intActId":"EBI-740322"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"P14373","geneName":"TRIM27","intActId":"EBI-719493"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"O70239","geneName":"Axin1","intActId":"EBI-6857773"},"numberOfExperiments":3,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0","intActId":"EBI-8583355"},"interactantTwo":{"uniProtKBAccession":"Q6NRT0","geneName":"csnk1g1","intActId":"EBI-8583566"},"numberOfExperiments":2,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"Q6UY14-3","geneName":"ADAMTSL4","intActId":"EBI-10173507"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"Q13137","geneName":"CALCOCO2","intActId":"EBI-739580"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"A8MQ03","geneName":"CYSRT1","intActId":"EBI-3867333"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"O95967","geneName":"EFEMP2","intActId":"EBI-743414"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"P49639","geneName":"HOXA1","intActId":"EBI-740785"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"O43593","geneName":"HR","intActId":"EBI-2880706"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"P60410","geneName":"KRTAP10-8","intActId":"EBI-10171774"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"Q6FHY5","geneName":"MEOX2","intActId":"EBI-16439278"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"A0A6Q8PF08","geneName":"PMP22","intActId":"EBI-50433196"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"Q8WW24","geneName":"TEKT4","intActId":"EBI-750487"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"Q63HR2","geneName":"TNS2","intActId":"EBI-949753"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y4X0-3","intActId":"EBI-12823597"},"interactantTwo":{"uniProtKBAccession":"Q15973","geneName":"ZNF124","intActId":"EBI-2555767"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27811305"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9Y4X0-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9Y4X0-2"],"sequenceIds":["VSP_008516"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q9Y4X0-3"],"sequenceIds":["VSP_017058"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q9Y4X0-4"],"sequenceIds":["VSP_044229"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis","diseaseAccession":"DI-04939","acronym":"MFHIEN","description":"An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay.","diseaseCrossReference":{"database":"MIM","id":"300990"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27811305"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28089922"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"AMME complex","diseaseAccession":"DI-01183","acronym":"ATS-MR","description":"An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis.","diseaseCrossReference":{"database":"MIM","id":"300194"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10049589"}]},"note":{"texts":[{"value":"The gene represented in this entry may be involved in disease pathogenesis"}]}}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":333,"modifier":"EXACT"}},"description":"Nuclear protein AMMECR1","featureId":"PRO_0000142366"},{"type":"Domain","location":{"start":{"value":119,"modifier":"EXACT"},"end":{"value":313,"modifier":"EXACT"}},"description":"AMMECR1","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00467"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":120,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":119,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":16,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":123,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_044229","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":158,"modifier":"EXACT"},"end":{"value":333,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10049589"}],"featureId":"VSP_008516","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":195,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_017058","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":177,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"in MFHIEN; creates a novel nonuniform expression pattern in the nucleus; dbSNP:rs1057519337","featureCrossReferences":[{"database":"dbSNP","id":"rs1057519337"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27811305"}],"featureId":"VAR_078027","alternativeSequence":{"originalSequence":"G","alternativeSequences":["D"]}}],"keywords":[{"id":"KW-0023","category":"Disease","name":"Alport syndrome"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0209","category":"Disease","name":"Deafness"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0250","category":"Disease","name":"Elliptocytosis"},{"id":"KW-0360","category":"Disease","name":"Hereditary hemolytic anemia"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"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"}],"references":[{"referenceNumber":1,"citation":{"id":"10049589","citationType":"journal article","authors":["Vitelli F.","Piccini M.","Caroli F.","Franco B.","Malandrini A.","Pober B.","Jonsson J.","Sorrentino V.","Renieri A."],"citationCrossReferences":[{"database":"PubMed","id":"10049589"},{"database":"DOI","id":"10.1006/geno.1998.5666"}],"title":"Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).","publicationDate":"1999","journal":"Genomics","firstPage":"335","lastPage":"340","volume":"55"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2)","INVOLVEMENT IN ATS-MR"]},{"referenceNumber":2,"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] (ISOFORM 4)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"15772651","citationType":"journal article","authors":["Ross M.T.","Grafham D.V.","Coffey A.J.","Scherer S.","McLay K.","Muzny D.","Platzer M.","Howell G.R.","Burrows C.","Bird C.P.","Frankish A.","Lovell F.L.","Howe K.L.","Ashurst J.L.","Fulton R.S.","Sudbrak R.","Wen G.","Jones M.C.","Hurles M.E.","Andrews T.D.","Scott C.E.","Searle S.","Ramser J.","Whittaker A.","Deadman R.","Carter N.P.","Hunt S.E.","Chen R.","Cree A.","Gunaratne P.","Havlak P.","Hodgson A.","Metzker M.L.","Richards S.","Scott G.","Steffen D.","Sodergren E.","Wheeler D.A.","Worley K.C.","Ainscough R.","Ambrose K.D.","Ansari-Lari M.A.","Aradhya S.","Ashwell R.I.","Babbage A.K.","Bagguley C.L.","Ballabio A.","Banerjee R.","Barker G.E.","Barlow K.F.","Barrett I.P.","Bates K.N.","Beare D.M.","Beasley H.","Beasley O.","Beck A.","Bethel G.","Blechschmidt K.","Brady N.","Bray-Allen S.","Bridgeman A.M.","Brown A.J.","Brown M.J.","Bonnin D.","Bruford E.A.","Buhay C.","Burch P.","Burford D.","Burgess J.","Burrill W.","Burton J.","Bye J.M.","Carder C.","Carrel L.","Chako J.","Chapman J.C.","Chavez D.","Chen E.","Chen G.","Chen Y.","Chen Z.","Chinault C.","Ciccodicola A.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.","Clerc-Blankenburg K.","Clifford K.","Cobley V.","Cole C.G.","Conquer J.S.","Corby N.","Connor R.E.","David R.","Davies J.","Davis C.","Davis J.","Delgado O.","Deshazo D.","Dhami P.","Ding Y.","Dinh H.","Dodsworth S.","Draper H.","Dugan-Rocha S.","Dunham A.","Dunn M.","Durbin K.J.","Dutta I.","Eades T.","Ellwood M.","Emery-Cohen A.","Errington H.","Evans K.L.","Faulkner L.","Francis F.","Frankland J.","Fraser A.E.","Galgoczy P.","Gilbert J.","Gill R.","Gloeckner G.","Gregory S.G.","Gribble S.","Griffiths C.","Grocock R.","Gu Y.","Gwilliam R.","Hamilton C.","Hart E.A.","Hawes A.","Heath P.D.","Heitmann K.","Hennig S.","Hernandez J.","Hinzmann B.","Ho S.","Hoffs M.","Howden P.J.","Huckle E.J.","Hume J.","Hunt P.J.","Hunt A.R.","Isherwood J.","Jacob L.","Johnson D.","Jones S.","de Jong P.J.","Joseph S.S.","Keenan S.","Kelly S.","Kershaw J.K.","Khan Z.","Kioschis P.","Klages S.","Knights A.J.","Kosiura A.","Kovar-Smith C.","Laird G.K.","Langford C.","Lawlor S.","Leversha M.","Lewis L.","Liu W.","Lloyd C.","Lloyd D.M.","Loulseged H.","Loveland J.E.","Lovell J.D.","Lozado R.","Lu J.","Lyne R.","Ma J.","Maheshwari M.","Matthews L.H.","McDowall J.","McLaren S.","McMurray A.","Meidl P.","Meitinger T.","Milne S.","Miner G.","Mistry S.L.","Morgan M.","Morris S.","Mueller I.","Mullikin J.C.","Nguyen N.","Nordsiek G.","Nyakatura G.","O'dell C.N.","Okwuonu G.","Palmer S.","Pandian R.","Parker D.","Parrish J.","Pasternak S.","Patel D.","Pearce A.V.","Pearson D.M.","Pelan S.E.","Perez L.","Porter K.M.","Ramsey Y.","Reichwald K.","Rhodes S.","Ridler K.A.","Schlessinger D.","Schueler M.G.","Sehra H.K.","Shaw-Smith C.","Shen H.","Sheridan E.M.","Shownkeen R.","Skuce C.D.","Smith M.L.","Sotheran E.C.","Steingruber H.E.","Steward C.A.","Storey R.","Swann R.M.","Swarbreck D.","Tabor P.E.","Taudien S.","Taylor T.","Teague B.","Thomas K.","Thorpe A.","Timms K.","Tracey A.","Trevanion S.","Tromans A.C.","d'Urso M.","Verduzco D.","Villasana D.","Waldron L.","Wall M.","Wang Q.","Warren J.","Warry G.L.","Wei X.","West A.","Whitehead S.L.","Whiteley M.N.","Wilkinson J.E.","Willey D.L.","Williams G.","Williams L.","Williamson A.","Williamson H.","Wilming L.","Woodmansey R.L.","Wray P.W.","Yen J.","Zhang J.","Zhou J.","Zoghbi H.","Zorilla S.","Buck D.","Reinhardt R.","Poustka A.","Rosenthal A.","Lehrach H.","Meindl A.","Minx P.J.","Hillier L.W.","Willard H.F.","Wilson R.K.","Waterston R.H.","Rice C.M.","Vaudin M.","Coulson A.","Nelson D.L.","Weinstock G.","Sulston J.E.","Durbin R.M.","Hubbard T.","Gibbs R.A.","Beck S.","Rogers J.","Bentley D.R."],"citationCrossReferences":[{"database":"PubMed","id":"15772651"},{"database":"DOI","id":"10.1038/nature03440"}],"title":"The DNA sequence of the human X chromosome.","publicationDate":"2005","journal":"Nature","firstPage":"325","lastPage":"337","volume":"434"},"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] (ISOFORM 3)"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"28089922","citationType":"journal article","authors":["Basel-Vanagaite L.","Pillar N.","Isakov O.","Smirin-Yosef P.","Lagovsky I.","Orenstein N.","Salmon-Divon M.","Tamary H.","Zaft T.","Bazak L.","Meyerovitch J.","Pelli T.","Botchan S.","Farberov L.","Weissglas-Volkov D.","Shomron N."],"citationCrossReferences":[{"database":"PubMed","id":"28089922"},{"database":"DOI","id":"10.1016/j.gene.2017.01.001"}],"title":"X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.","publicationDate":"2017","journal":"Gene","firstPage":"47","lastPage":"52","volume":"606"},"referencePositions":["INVOLVEMENT IN MFHIEN"]},{"referenceNumber":7,"citation":{"id":"27811305","citationType":"journal article","authors":["Andreoletti G.","Seaby E.G.","Dewing J.M.","O'Kelly I.","Lachlan K.","Gilbert R.D.","Ennis S."],"citationCrossReferences":[{"database":"PubMed","id":"27811305"},{"database":"DOI","id":"10.1136/jmedgenet-2016-104100"}],"title":"AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.","publicationDate":"2017","journal":"J. Med. Genet.","firstPage":"269","lastPage":"277","volume":"54"},"referencePositions":["VARIANT MFHIEN ASP-177","CHARACTERIZATION OF VARIANT MFHIEN ASP-177","INVOLVEMENT IN MFHIEN","SUBCELLULAR LOCATION"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AJ007014","properties":[{"key":"ProteinId","value":"CAB45546.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK091430","properties":[{"key":"ProteinId","value":"BAG52359.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AJ012221","properties":[{"key":"ProteinId","value":"CAB58122.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012222","properties":[{"key":"ProteinId","value":"CAB58122.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012223","properties":[{"key":"ProteinId","value":"CAB58122.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012224","properties":[{"key":"ProteinId","value":"CAB58122.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012225","properties":[{"key":"ProteinId","value":"CAB58122.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012226","properties":[{"key":"ProteinId","value":"CAB58122.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012221","properties":[{"key":"ProteinId","value":"CAB58123.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AJ012227","properties":[{"key":"ProteinId","value":"CAB58123.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL079334","properties":[{"key":"ProteinId","value":"CAI42537.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL031319","properties":[{"key":"ProteinId","value":"CAI42537.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL359079","properties":[{"key":"ProteinId","value":"CAI42537.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL079334","properties":[{"key":"ProteinId","value":"CAI42538.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL031319","properties":[{"key":"ProteinId","value":"CAI42538.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL359079","properties":[{"key":"ProteinId","value":"CAI42538.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL359079","properties":[{"key":"ProteinId","value":"CAI41539.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL031319","properties":[{"key":"ProteinId","value":"CAI41539.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL079334","properties":[{"key":"ProteinId","value":"CAI41539.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL359079","properties":[{"key":"ProteinId","value":"CAI41540.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL031319","properties":[{"key":"ProteinId","value":"CAI41540.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL079334","properties":[{"key":"ProteinId","value":"CAI41540.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL031319","properties":[{"key":"ProteinId","value":"CAI42703.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL079334","properties":[{"key":"ProteinId","value":"CAI42703.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL359079","properties":[{"key":"ProteinId","value":"CAI42703.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL031319","properties":[{"key":"ProteinId","value":"CAI42704.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL079334","properties":[{"key":"ProteinId","value":"CAI42704.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL359079","properties":[{"key":"ProteinId","value":"CAI42704.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC060813","properties":[{"key":"ProteinId","value":"AAH60813.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS14551.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9Y4X0-1"},{"database":"CCDS","id":"CCDS35368.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9Y4X0-3"},{"database":"CCDS","id":"CCDS55476.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9Y4X0-4"},{"database":"RefSeq","id":"NP_001020751.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001025580.2"}],"isoformId":"Q9Y4X0-3"},{"database":"RefSeq","id":"NP_001165160.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001171689.2"}],"isoformId":"Q9Y4X0-4"},{"database":"RefSeq","id":"NP_056180.1","properties":[{"key":"NucleotideSequenceId","value":"NM_015365.3"}],"isoformId":"Q9Y4X0-1"},{"database":"AlphaFoldDB","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"115274","properties":[{"key":"Interactions","value":"35"}]},{"database":"FunCoup","id":"Q9Y4X0","properties":[{"key":"Number of interactors","value":"3012"}]},{"database":"IntAct","id":"Q9Y4X0","properties":[{"key":"Interactions","value":"37"}]},{"database":"MINT","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"STRING","id":"9606.ENSP00000262844","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL5724732","properties":[{"key":"Description","value":"-"}]},{"database":"iPTMnet","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"AMMECR1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"48475039","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000262844","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"63517","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"86255","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9Y4X0-1"},{"database":"ProteomicsDB","id":"86256","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9Y4X0-2"},{"database":"ProteomicsDB","id":"86257","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9Y4X0-3"},{"database":"Pumba","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"29496","properties":[{"key":"antibodies","value":"128 antibodies from 23 providers"}]},{"database":"DNASU","id":"9949","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000262844.10","properties":[{"key":"ProteinId","value":"ENSP00000262844.5"},{"key":"GeneId","value":"ENSG00000101935.13"}],"isoformId":"Q9Y4X0-1"},{"database":"Ensembl","id":"ENST00000372057.1","properties":[{"key":"ProteinId","value":"ENSP00000361127.1"},{"key":"GeneId","value":"ENSG00000101935.13"}],"isoformId":"Q9Y4X0-4"},{"database":"Ensembl","id":"ENST00000372059.6","properties":[{"key":"ProteinId","value":"ENSP00000361129.2"},{"key":"GeneId","value":"ENSG00000101935.13"}],"isoformId":"Q9Y4X0-3"},{"database":"GeneID","id":"9949","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:9949","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000262844.10","properties":[{"key":"ProteinId","value":"ENSP00000262844.5"},{"key":"RefSeqNucleotideId","value":"NM_015365.3"},{"key":"RefSeqProteinId","value":"NP_056180.1"}]},{"database":"UCSC","id":"uc004eoo.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q9Y4X0-1"},{"database":"AGR","id":"HGNC:467","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA24772","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"9949","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"9949","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"AMMECR1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:467","properties":[{"key":"GeneName","value":"AMMECR1"}]},{"database":"HPA","id":"ENSG00000101935","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"AMMECR1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"300194","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"300195","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"300990","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000101935","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"86818","properties":[{"key":"Disease","value":"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"}]},{"database":"Orphanet","id":"688581","properties":[{"key":"Disease","value":"Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000101935","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3274","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000010397","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_052828_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"YAEYIGH","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"24630at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q9Y4X0","properties":[{"key":"Number of GO annotations","value":"1 GO annotation based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000101935","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"9949","properties":[{"key":"hits","value":"10 hits in 773 CRISPR screens"}]},{"database":"ChiTaRS","id":"AMMECR1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"9949","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q9Y4X0","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q9Y4X0","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome X"}]},{"database":"RNAct","id":"Q9Y4X0","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000101935","properties":[{"key":"ExpressionPatterns","value":"Expressed in esophagus squamous epithelium and 179 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q9Y4X0","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"27811305"}]},{"database":"FunFam","id":"3.30.700.20:FF:000001","properties":[{"key":"EntryName","value":"AMME syndrome candidate gene 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.700.20","properties":[{"key":"EntryName","value":"Hypothetical protein ph0010, domain 1"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR023473","properties":[{"key":"EntryName","value":"AMMECR1"}]},{"database":"InterPro","id":"IPR036071","properties":[{"key":"EntryName","value":"AMMECR1_dom_sf"}]},{"database":"InterPro","id":"IPR002733","properties":[{"key":"EntryName","value":"AMMECR1_domain"}]},{"database":"InterPro","id":"IPR027485","properties":[{"key":"EntryName","value":"AMMECR1_N"}]},{"database":"NCBIfam","id":"TIGR00296","properties":[{"key":"EntryName","value":"TIGR00296 family protein"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR13016","properties":[{"key":"EntryName","value":"AMMECR1 HOMOLOG"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR13016:SF2","properties":[{"key":"EntryName","value":"NUCLEAR PROTEIN AMMECR1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF01871","properties":[{"key":"EntryName","value":"AMMECR1"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF143447","properties":[{"key":"EntryName","value":"AMMECR1-like"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51112","properties":[{"key":"EntryName","value":"AMMECR1"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS","length":333,"molWeight":35463,"crc64":"CE3942EFD6E55A8D","md5":"2FE1B09F1E0BA13B9730AFDBC1343E2E"},"extraAttributes":{"countByCommentType":{"INTERACTION":21,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":4,"DISEASE":2},"countByFeatureType":{"Chain":1,"Domain":1,"Region":2,"Compositional bias":2,"Modified residue":1,"Alternative sequence":3,"Natural variant":1},"uniParcId":"UPI000006E66F"}}