{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P51826","secondaryAccessions":["B7ZM46","B9EGL9","D3DVI6","Q53RD6","Q53S47","Q53SI6","Q53TB9","Q59F27","Q8IWJ5"],"uniProtkbId":"AFF3_HUMAN","entryAudit":{"firstPublicDate":"1996-10-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2018-09-12","entryVersion":180,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"AF4/FMR2 family member 3"}},"alternativeNames":[{"fullName":{"value":"Lymphoid nuclear protein related to AF4"},"shortNames":[{"value":"Protein LAF-4"}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"28397838"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:6473"}],"value":"AFF3"},"synonyms":[{"value":"LAF4"}]}],"comments":[{"texts":[{"value":"Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA"}],"commentType":"FUNCTION"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P51826-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P51826-2"],"sequenceIds":["VSP_041120"],"isoformSequenceStatus":"Described"}]},{"texts":[{"value":"Preferentially expressed in lymphoid tissues, highest levels being found in the thymus"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"KINSSHIP syndrome","diseaseAccession":"DI-06095","acronym":"KINS","description":"An autosomal dominant disease characterized by developmental delay, impaired intellectual development, seizures, short stature, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive.","diseaseCrossReference":{"database":"MIM","id":"619297"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31388108"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}]},"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 AF4 family"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/315/LAF4","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1226,"modifier":"EXACT"}},"description":"AF4/FMR2 family member 3","featureId":"PRO_0000215916"},{"type":"Region","location":{"start":{"value":24,"modifier":"EXACT"},"end":{"value":65,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":116,"modifier":"EXACT"},"end":{"value":164,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":197,"modifier":"EXACT"},"end":{"value":299,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":323,"modifier":"EXACT"},"end":{"value":496,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":523,"modifier":"EXACT"},"end":{"value":728,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":783,"modifier":"EXACT"},"end":{"value":856,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":879,"modifier":"EXACT"},"end":{"value":964,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1100,"modifier":"EXACT"},"end":{"value":1138,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":24,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":42,"modifier":"EXACT"},"end":{"value":52,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":123,"modifier":"EXACT"},"end":{"value":132,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":251,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":334,"modifier":"EXACT"},"end":{"value":344,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":381,"modifier":"EXACT"},"end":{"value":392,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":396,"modifier":"EXACT"},"end":{"value":408,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":409,"modifier":"EXACT"},"end":{"value":445,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":485,"modifier":"EXACT"},"end":{"value":496,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":523,"modifier":"EXACT"},"end":{"value":533,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":550,"modifier":"EXACT"},"end":{"value":561,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":569,"modifier":"EXACT"},"end":{"value":579,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":589,"modifier":"EXACT"},"end":{"value":607,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":668,"modifier":"EXACT"},"end":{"value":678,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":692,"modifier":"EXACT"},"end":{"value":705,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":830,"modifier":"EXACT"},"end":{"value":842,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":843,"modifier":"EXACT"},"end":{"value":856,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":894,"modifier":"EXACT"},"end":{"value":909,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":755,"modifier":"EXACT"},"end":{"value":755,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19369195"}]},{"type":"Modified residue","location":{"start":{"value":881,"modifier":"EXACT"},"end":{"value":881,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19369195"}]},{"type":"Alternative sequence","location":{"start":{"value":18,"modifier":"EXACT"},"end":{"value":18,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_041120","alternativeSequence":{"originalSequence":"C","alternativeSequences":["WGEDILNQRNDSLVVEFQSSASRCRS"]}},{"type":"Natural variant","location":{"start":{"value":231,"modifier":"EXACT"},"end":{"value":231,"modifier":"EXACT"}},"description":"in KINS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}],"featureId":"VAR_085675","alternativeSequence":{"originalSequence":"P","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":231,"modifier":"EXACT"},"end":{"value":231,"modifier":"EXACT"}},"description":"in KINS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}],"featureId":"VAR_085676","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":233,"modifier":"EXACT"}},"description":"in KINS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}],"featureId":"VAR_085677","alternativeSequence":{"originalSequence":"A","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":233,"modifier":"EXACT"}},"description":"in KINS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31388108"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}],"featureId":"VAR_085678","alternativeSequence":{"originalSequence":"A","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":233,"modifier":"EXACT"}},"description":"in KINS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}],"featureId":"VAR_085679","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":235,"modifier":"EXACT"}},"description":"in KINS","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33961779"}],"featureId":"VAR_085680","alternativeSequence":{"originalSequence":"V","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":358,"modifier":"EXACT"},"end":{"value":358,"modifier":"EXACT"}},"description":"in dbSNP:rs4851223","featureCrossReferences":[{"database":"dbSNP","id":"rs4851223"}],"featureId":"VAR_030805","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":494,"modifier":"EXACT"},"end":{"value":494,"modifier":"EXACT"}},"description":"in dbSNP:rs1047265","featureCrossReferences":[{"database":"dbSNP","id":"rs1047265"}],"featureId":"VAR_030806","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":1215,"modifier":"EXACT"},"end":{"value":1215,"modifier":"EXACT"}},"description":"found in a consanguineous family with intellectual disability; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28397838"}],"featureId":"VAR_080758","alternativeSequence":{"originalSequence":"G","alternativeSequences":["V"]}},{"type":"Sequence conflict","location":{"start":{"value":87,"modifier":"EXACT"},"end":{"value":87,"modifier":"EXACT"}},"description":"in Ref. 1; AAA98763","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["T"]}},{"type":"Sequence conflict","location":{"start":{"value":421,"modifier":"EXACT"},"end":{"value":421,"modifier":"EXACT"}},"description":"in Ref. 1; AAA98763","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["T"]}},{"type":"Sequence conflict","location":{"start":{"value":1030,"modifier":"EXACT"},"end":{"value":1030,"modifier":"EXACT"}},"description":"in Ref. 1; AAA98763","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["YL"]}},{"type":"Sequence conflict","location":{"start":{"value":1120,"modifier":"EXACT"},"end":{"value":1120,"modifier":"EXACT"}},"description":"in Ref. 1; AAA98763","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Sequence conflict","location":{"start":{"value":1125,"modifier":"EXACT"},"end":{"value":1127,"modifier":"EXACT"}},"description":"in Ref. 1; AAA98763","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"SPA","alternativeSequences":["FPG"]}}],"keywords":[{"id":"KW-0010","category":"Molecular function","name":"Activator"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0238","category":"Molecular function","name":"DNA-binding"},{"id":"KW-0242","category":"Disease","name":"Dwarfism"},{"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"},{"id":"KW-0804","category":"Biological process","name":"Transcription"},{"id":"KW-0805","category":"Biological process","name":"Transcription regulation"}],"references":[{"referenceNumber":1,"citation":{"id":"8555498","citationType":"journal article","authors":["Ma C.","Staudt L.M."],"citationCrossReferences":[{"database":"PubMed","id":"8555498"},{"database":"DOI","id":"10.1182/blood.v87.2.734.bloodjournal872734"}],"title":"LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias.","publicationDate":"1996","journal":"Blood","firstPage":"734","lastPage":"745","volume":"87"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"]},{"referenceNumber":2,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"CI-5GBD0VIIJ7C63","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"SEP-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"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] (ISOFORMS 1 AND 2)"],"referenceComments":[{"value":"Lymph","type":"TISSUE"},{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"CI-6FM9UGIHPC7GG","citationType":"submission","authors":["Totoki Y.","Toyoda A.","Takeda T.","Sakaki Y.","Tanaka A.","Yokoyama S.","Ohara O.","Nagase T.","Kikuno R.F."],"publicationDate":"MAR-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 689-1226"],"referenceComments":[{"value":"Spleen","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"19369195","citationType":"journal article","authors":["Oppermann F.S.","Gnad F.","Olsen J.V.","Hornberger R.","Greff Z.","Keri G.","Mann M.","Daub H."],"citationCrossReferences":[{"database":"PubMed","id":"19369195"},{"database":"DOI","id":"10.1074/mcp.m800588-mcp200"}],"title":"Large-scale proteomics analysis of the human kinome.","publicationDate":"2009","journal":"Mol. Cell. Proteomics","firstPage":"1751","lastPage":"1764","volume":"8"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-755 AND SER-881","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":8,"citation":{"id":"28397838","citationType":"journal article","authors":["Harripaul R.","Vasli N.","Mikhailov A.","Rafiq M.A.","Mittal K.","Windpassinger C.","Sheikh T.I.","Noor A.","Mahmood H.","Downey S.","Johnson M.","Vleuten K.","Bell L.","Ilyas M.","Khan F.S.","Khan V.","Moradi M.","Ayaz M.","Naeem F.","Heidari A.","Ahmed I.","Ghadami S.","Agha Z.","Zeinali S.","Qamar R.","Mozhdehipanah H.","John P.","Mir A.","Ansar M.","French L.","Ayub M.","Vincent J.B."],"citationCrossReferences":[{"database":"PubMed","id":"28397838"},{"database":"DOI","id":"10.1038/mp.2017.60"}],"title":"Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.","publicationDate":"2018","journal":"Mol. Psychiatry","firstPage":"973","lastPage":"984","volume":"23"},"referencePositions":["VARIANT VAL-1215"]},{"referenceNumber":9,"citation":{"id":"31388108","citationType":"journal article","authors":["Shimizu D.","Sakamoto R.","Yamoto K.","Saitsu H.","Fukami M.","Nishimura G.","Ogata T."],"citationCrossReferences":[{"database":"PubMed","id":"31388108"},{"database":"DOI","id":"10.1038/s10038-019-0650-0"}],"title":"De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.","publicationDate":"2019","journal":"J. Hum. Genet.","firstPage":"1041","lastPage":"1044","volume":"64"},"referencePositions":["VARIANT KINS THR-233","INVOLVEMENT IN KINS"]},{"referenceNumber":10,"citation":{"id":"33961779","citationType":"journal article","authors":["Voisin N.","Schnur R.E.","Douzgou S.","Hiatt S.M.","Rustad C.F.","Brown N.J.","Earl D.L.","Keren B.","Levchenko O.","Geuer S.","Verheyen S.","Johnson D.","Zarate Y.A.","Hancarova M.","Amor D.J.","Bebin E.M.","Blatterer J.","Brusco A.","Cappuccio G.","Charrow J.","Chatron N.","Cooper G.M.","Courtin T.","Dadali E.","Delafontaine J.","Del Giudice E.","Doco M.","Douglas G.","Eisenkoelbl A.","Funari T.","Giannuzzi G.","Gruber-Sedlmayr U.","Guex N.","Heron D.","Holla O.L.","Hurst A.C.E.","Juusola J.","Kronn D.","Lavrov A.","Lee C.","Lorrain S.","Merckoll E.","Mikhaleva A.","Norman J.","Pradervand S.","Prchalova D.","Rhodes L.","Sanders V.R.","Sedlacek Z.","Seebacher H.A.","Sellars E.A.","Sirchia F.","Takenouchi T.","Tanaka A.J.","Taska-Tench H.","Toenne E.","Tveten K.","Vitiello G.","Vlckova M.","Uehara T.","Nava C.","Yalcin B.","Kosaki K.","Donnai D.","Mundlos S.","Brunetti-Pierri N.","Chung W.K.","Reymond A."],"citationCrossReferences":[{"database":"PubMed","id":"33961779"},{"database":"DOI","id":"10.1016/j.ajhg.2021.04.001"}],"title":"Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.","publicationDate":"2021","journal":"Am. J. Hum. Genet.","firstPage":"857","lastPage":"873","volume":"108"},"referencePositions":["VARIANTS KINS ALA-231; LEU-231; SER-233; THR-233; VAL-233 AND GLY-235","INVOLVEMENT IN KINS"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"U34360","properties":[{"key":"ProteinId","value":"AAA98763.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC092667","properties":[{"key":"ProteinId","value":"AAY24278.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC010736","properties":[{"key":"ProteinId","value":"AAY14792.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC073118","properties":[{"key":"ProteinId","value":"AAY24187.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC018690","properties":[{"key":"ProteinId","value":"AAY24315.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471127","properties":[{"key":"ProteinId","value":"EAX01854.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471127","properties":[{"key":"ProteinId","value":"EAX01855.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471127","properties":[{"key":"ProteinId","value":"EAX01856.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471127","properties":[{"key":"ProteinId","value":"EAX01857.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471127","properties":[{"key":"ProteinId","value":"EAX01858.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471127","properties":[{"key":"ProteinId","value":"EAX01859.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC036895","properties":[{"key":"ProteinId","value":"AAH36895.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC136579","properties":[{"key":"ProteinId","value":"AAI36580.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC144266","properties":[{"key":"ProteinId","value":"AAI44267.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB209634","properties":[{"key":"ProteinId","value":"BAD92871.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS33258.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P51826-2"},{"database":"CCDS","id":"CCDS42723.1","properties":[{"key":"Description","value":"-"}],"isoformId":"P51826-1"},{"database":"RefSeq","id":"NP_001020279.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001025108.2"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"NP_001373064.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001386135.1"}],"isoformId":"P51826-1"},{"database":"RefSeq","id":"NP_002276.2","properties":[{"key":"NucleotideSequenceId","value":"NM_002285.3"}],"isoformId":"P51826-1"},{"database":"RefSeq","id":"XP_005264000.2","properties":[{"key":"NucleotideSequenceId","value":"XM_005263943.5"}],"isoformId":"P51826-1"},{"database":"RefSeq","id":"XP_011509476.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011511174.4"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_047300236.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047444280.1"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_047300237.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047444281.1"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_047300239.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047444283.1"}],"isoformId":"P51826-1"},{"database":"RefSeq","id":"XP_054197967.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341992.1"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_054197968.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341993.1"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_054197969.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341994.1"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_054197970.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341995.1"}],"isoformId":"P51826-2"},{"database":"RefSeq","id":"XP_054197972.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054341997.1"}],"isoformId":"P51826-1"},{"database":"AlphaFoldDB","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"110096","properties":[{"key":"Interactions","value":"16"}]},{"database":"FunCoup","id":"P51826","properties":[{"key":"Number of interactors","value":"1941"}]},{"database":"IntAct","id":"P51826","properties":[{"key":"Interactions","value":"7"}]},{"database":"STRING","id":"9606.ENSP00000386834","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"P51826","properties":[{"key":"glycosylation","value":"7 sites, 1 O-linked glycan (6 sites)"}]},{"database":"iPTMnet","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"AFF3","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"126302515","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000386834","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"56428","properties":[{"key":"Description","value":"-"}],"isoformId":"P51826-1"},{"database":"ProteomicsDB","id":"56429","properties":[{"key":"Description","value":"-"}],"isoformId":"P51826-2"},{"database":"Antibodypedia","id":"32831","properties":[{"key":"antibodies","value":"58 antibodies from 18 providers"}]},{"database":"DNASU","id":"3899","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000317233.8","properties":[{"key":"ProteinId","value":"ENSP00000317421.4"},{"key":"GeneId","value":"ENSG00000144218.21"}],"isoformId":"P51826-1"},{"database":"Ensembl","id":"ENST00000409236.6","properties":[{"key":"ProteinId","value":"ENSP00000387207.1"},{"key":"GeneId","value":"ENSG00000144218.21"}],"isoformId":"P51826-1"},{"database":"Ensembl","id":"ENST00000409579.5","properties":[{"key":"ProteinId","value":"ENSP00000386834.1"},{"key":"GeneId","value":"ENSG00000144218.21"}],"isoformId":"P51826-2"},{"database":"Ensembl","id":"ENST00000672756.2","properties":[{"key":"ProteinId","value":"ENSP00000500419.1"},{"key":"GeneId","value":"ENSG00000144218.21"}],"isoformId":"P51826-1"},{"database":"GeneID","id":"3899","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:3899","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000672756.2","properties":[{"key":"ProteinId","value":"ENSP00000500419.1"},{"key":"RefSeqNucleotideId","value":"NM_001386135.1"},{"key":"RefSeqProteinId","value":"NP_001373064.1"}]},{"database":"UCSC","id":"uc002tag.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"P51826-1"},{"database":"AGR","id":"HGNC:6473","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA30264","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"3899","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"3899","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"AFF3","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:6473","properties":[{"key":"GeneName","value":"AFF3"}]},{"database":"HPA","id":"ENSG00000144218","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"AFF3","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"601464","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"619297","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000144218","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"632603","properties":[{"key":"Disease","value":"Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000144218","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QU9C","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00950000182974","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_006484_1_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"NSHRDCK","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6382204at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"P51826","properties":[{"key":"Number of GO annotations","value":"5 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"P51826","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000144218","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"3899","properties":[{"key":"hits","value":"20 hits in 1148 CRISPR screens"}]},{"database":"ChiTaRS","id":"AFF3","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"AFF3","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"3899","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"P51826","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:P51826","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"RNAct","id":"P51826","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000144218","properties":[{"key":"ExpressionPatterns","value":"Expressed in cortical plate and 172 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"P51826","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:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"8555498"}]},{"database":"GO","id":"GO:0032783","properties":[{"key":"GoTerm","value":"C:super elongation complex"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0003712","properties":[{"key":"GoTerm","value":"F:transcription coregulator activity"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006354","properties":[{"key":"GoTerm","value":"P:DNA-templated transcription elongation"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0035116","properties":[{"key":"GoTerm","value":"P:embryonic hindlimb morphogenesis"},{"key":"GoEvidenceType","value":"IMP:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"18616733"}]},{"database":"GO","id":"GO:0050877","properties":[{"key":"GoTerm","value":"P:nervous system process"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006355","properties":[{"key":"GoTerm","value":"P:regulation of DNA-templated transcription"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0034612","properties":[{"key":"GoTerm","value":"P:response to tumor necrosis factor"},{"key":"GoEvidenceType","value":"IMP:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"20444755"}]},{"database":"Gene3D","id":"6.10.250.2670","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR007797","properties":[{"key":"EntryName","value":"AF4/FMR2"}]},{"database":"InterPro","id":"IPR043640","properties":[{"key":"EntryName","value":"AF4/FMR2_CHD"}]},{"database":"InterPro","id":"IPR043639","properties":[{"key":"EntryName","value":"AF4_int"}]},{"database":"PANTHER","id":"PTHR10528","properties":[{"key":"EntryName","value":"AF4/FMR2 FAMILY MEMBER"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10528:SF16","properties":[{"key":"EntryName","value":"AF4_FMR2 FAMILY MEMBER 3"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF05110","properties":[{"key":"EntryName","value":"AF-4"},{"key":"MatchStatus","value":"2"}]},{"database":"Pfam","id":"PF18875","properties":[{"key":"EntryName","value":"AF4_int"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF18876","properties":[{"key":"EntryName","value":"AFF4_CHD"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDSFDLALLQEWDLESLCVYEPDRNALRRKERERRNQETQQDDGTFNSSYSLFSEPYKTNKGDELSNRIQNTLGNYDEMKDFLTDRSNQSHLVGVPKPGVPQTPVNKIDEHFVADSRAQNQPSSICSTTTSTPAAVPVQQSKRGTMGWQKAGHPPSDGQQRATQQGSLRTLLGDGVGRQQPRAKQVCNVEVGLQTQERPPAMAAKHSSSGHCVQNFPPSLASKPSLVQQKPTAYVRPMDGQDQAPDESPKLKSSSETSVHCTSYRGVPASKPEPARAKAKLSKFSIPKQGEESRSGETNSCVEEIIREMTWLPPLSAIQAPGKVEPTKFPFPNKDSQLVSSGHNNPKKGDAEPESPDNGTSNTSMLEDDLKLSSDEEENEQQAAQRTALRALSDSAVVQQPNCRTSVPSSKGSSSSSSSGSSSSSSDSESSSGSDSETESSSSESEGSKPPHFSSPEAEPASSNKWQLDKWLNKVNPHKPPILIQNESHGSESNQYYNPVKEDVQDCGKVPDVCQPSLREKEIKSTCKEEQRPRTANKAPGSKGVKQKSPPAAVAVAVSAAAPPPAVPCAPAENAPAPARRSAGKKPTRRTERTSAGDGANCHRPEEPAAADALGTSVVVPPEPTKTRPCGNNRASHRKELRSSVTCEKRRTRGLSRIVPKSKEFIETESSSSSSSSDSDLESEQEEYPLSKAQTVAASASSGNDQRLKEAAANGGSGPRAPVGSINARTTSDIAKELEEQFYTLVPFGRNELLSPLKDSDEIRSLWVKIDLTLLSRIPEHLPQEPGVLSAPATKDSESAPPSHTSDTPAEKALPKSKRKRKCDNEDDYREIKKSQGEKDSSSRLATSTSNTLSANHCNMNINSVAIPINKNEKMLRSPISPLSDASKHKYTSEDLTSSSRPNGNSLFTSASSSKKPKADSQLQPHGGDLTKAAHNNSENIPLHKSRPQTKPWSPGSNGHRDCKRQKLVFDDMPRSADYFMQEAKRMKHKADAMVEKFGKALNYAEAALSFIECGNAMEQGPMESKSPYTMYSETVELIRYAMRLKTHSGPNATPEDKQLAALCYRCLALLYWRMFRLKRDHAVKYSKALIDYFKNSSKAAQAPSPWGASGKSTGTPSPMSPNPSPASSVGSQGSLSNASALSPSTIVSIPQRIHQMAANHVSITNSILHSYDYWEMADNLAKENREFFNDLDLLMGPVTLHSSMEHLVQYSQQGLHWLRNSAHLS","length":1226,"molWeight":133503,"crc64":"BD2D90358609E156","md5":"8E96F7166304EEF022736E9F66DDA8B0"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"TISSUE SPECIFICITY":1,"DISEASE":1,"SIMILARITY":1,"WEB RESOURCE":1},"countByFeatureType":{"Chain":1,"Region":8,"Compositional bias":18,"Modified residue":2,"Alternative sequence":1,"Natural variant":9,"Sequence conflict":5},"uniParcId":"UPI0000545268"}}