{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q01851","secondaryAccessions":["Q14986","Q15318","Q5T227"],"uniProtkbId":"PO4F1_HUMAN","entryAudit":{"firstPublicDate":"1993-07-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2011-05-31","entryVersion":217,"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:0000312","source":"HGNC","id":"HGNC:9218"}],"value":"POU domain, class 4, transcription factor 1"}},"alternativeNames":[{"fullName":{"value":"Brain-specific homeobox/POU domain protein 3A"},"shortNames":[{"value":"Brain-3A"},{"value":"Brn-3A"}]},{"fullName":{"value":"Homeobox/POU domain protein RDC-1"}},{"fullName":{"value":"Oct-T1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:9218"}],"value":"POU4F1"},"synonyms":[{"value":"BRN3A"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"1357630"}],"value":"RDC1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P17208"}],"value":"Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Activates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P17208"}],"value":"Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells"}],"commentType":"FUNCTION","molecule":"Isoform 2"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P17208"}],"value":"Interacts (via N-terminus) with RIT2; the interaction controls POU4F1 transactivation activity on some neuronal target genes. Isoform 1 interacts with POU4F2; this interaction inhibits both POU4F1 DNA-binding and transcriptional activities. Isoform 1 interacts (C-terminus) with ESR1 (via DNA-binding domain); this interaction decreases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q01851","intActId":"EBI-17480471"},"interactantTwo":{"uniProtKBAccession":"Q9UPY8","geneName":"MAPRE3","intActId":"EBI-726739"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12934100"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P17208"}],"value":"Cytoplasm","id":"SL-0086"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Brn-3A-Long"}],"isoformIds":["Q01851-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Brn-3A-Short"}],"isoformIds":["Q01851-2"],"sequenceIds":["VSP_058636"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1357630"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"7623109"}],"value":"Expressed in the brain and the retina. Present in the developing brain, spinal cord and eye"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"1357630"}],"value":"Expression peaks early in embryogenesis (day 13.5) and is undetectable 14 days after birth"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P17208"}],"value":"The C-terminal domain is able to act as both DNA-binding domain and a transcriptional activator. The N-terminal domain is also required for transactivation activity on some target genes acting as a discrete activation domain. Neurite outgrowth and expression of genes required for synapse formation are primarily dependent on the C-terminal domain, however the N-terminal domain is required for maximal induction"}],"commentType":"DOMAIN"},{"commentType":"DISEASE","disease":{"diseaseId":"Ataxia, intention tremor, and hypotonia syndrome, childhood-onset","diseaseAccession":"DI-06132","acronym":"ATITHS","description":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients.","diseaseCrossReference":{"database":"MIM","id":"619352"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33783914"}]},"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 POU transcription factor family. Class-4 subfamily"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"CAA45907.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/44173/POU4F1","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":419,"modifier":"EXACT"}},"description":"POU domain, class 4, transcription factor 1","featureId":"PRO_0000100736"},{"type":"Domain","location":{"start":{"value":261,"modifier":"EXACT"},"end":{"value":338,"modifier":"EXACT"}},"description":"POU-specific","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00530"}]},{"type":"DNA binding","location":{"start":{"value":356,"modifier":"EXACT"},"end":{"value":415,"modifier":"EXACT"}},"description":"Homeobox","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00108"}]},{"type":"Region","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":117,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":131,"modifier":"EXACT"},"end":{"value":197,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Motif","location":{"start":{"value":57,"modifier":"EXACT"},"end":{"value":66,"modifier":"EXACT"}},"description":"POU-IV box"},{"type":"Compositional bias","location":{"start":{"value":99,"modifier":"EXACT"},"end":{"value":108,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":131,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"Gly residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":84,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_058636","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":163,"modifier":"EXACT"},"end":{"value":163,"modifier":"EXACT"}},"description":"","featureId":"VAR_046449","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":306,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"in ATITHS; decreased transcriptional activity shown in a luciferase assay; dbSNP:rs1874704791","featureCrossReferences":[{"database":"dbSNP","id":"rs1874704791"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33783914"}],"featureId":"VAR_085801","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":92,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"TS","alternativeSequences":["H"]}},{"type":"Sequence conflict","location":{"start":{"value":99,"modifier":"EXACT"},"end":{"value":99,"modifier":"EXACT"}},"description":"in Ref. 3; AAA57161","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":129,"modifier":"EXACT"},"end":{"value":129,"modifier":"EXACT"}},"description":"in Ref. 3; AAA57161","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["AGAG"]}},{"type":"Sequence conflict","location":{"start":{"value":146,"modifier":"EXACT"},"end":{"value":147,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"GP","alternativeSequences":["AA"]}},{"type":"Sequence conflict","location":{"start":{"value":152,"modifier":"EXACT"},"end":{"value":153,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"GP","alternativeSequences":["PR"]}},{"type":"Sequence conflict","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":159,"modifier":"EXACT"}},"description":"in Ref. 2; AAA65605, 3; AAA57161 and 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"P","alternativeSequences":["PG"]}},{"type":"Sequence conflict","location":{"start":{"value":170,"modifier":"EXACT"},"end":{"value":171,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"GP","alternativeSequences":["AA"]}},{"type":"Sequence conflict","location":{"start":{"value":185,"modifier":"EXACT"},"end":{"value":185,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":236,"modifier":"EXACT"},"end":{"value":236,"modifier":"EXACT"}},"description":"in Ref. 2; AAA65605","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":245,"modifier":"EXACT"},"end":{"value":245,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{}},{"type":"Sequence conflict","location":{"start":{"value":252,"modifier":"EXACT"},"end":{"value":252,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":272,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"in Ref. 1; CAA45907","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"AER","alternativeSequences":["GS"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0217","category":"Molecular function","name":"Developmental protein"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0238","category":"Molecular function","name":"DNA-binding"},{"id":"KW-0371","category":"Domain","name":"Homeobox"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"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":"1357630","citationType":"journal article","authors":["Collum R.G.","Fisher P.E.","Datta M.","Mellis S.","Thiele C.","Huebner K.","Croce C.M.","Israel M.A.","Theil T.","Moroy T.","DePinho R.A.","Alt F.W."],"citationCrossReferences":[{"database":"PubMed","id":"1357630"},{"database":"DOI","id":"10.1093/nar/20.18.4919"}],"title":"A novel POU homeodomain gene specifically expressed in cells of the developing mammalian nervous system.","publicationDate":"1992","journal":"Nucleic Acids Res.","firstPage":"4919","lastPage":"4925","volume":"20"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)","DEVELOPMENTAL STAGE"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"8234287","citationType":"journal article","authors":["Bhargava A.K.","Li Z.","Weissman S.M."],"citationCrossReferences":[{"database":"PubMed","id":"8234287"},{"database":"DOI","id":"10.1073/pnas.90.21.10260"}],"title":"Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells.","publicationDate":"1993","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10260","lastPage":"10264","volume":"90"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA]"]},{"referenceNumber":3,"citation":{"id":"7623109","citationType":"journal article","authors":["Xiang M.","Zhou L.-J.","Macke J.P.","Yoshioka T.","Hendry S.H.","Eddy R.L.","Shows T.B.","Nathans J."],"citationCrossReferences":[{"database":"PubMed","id":"7623109"},{"database":"DOI","id":"10.1523/jneurosci.15-07-04762.1995"}],"title":"The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons.","publicationDate":"1995","journal":"J. Neurosci.","firstPage":"4762","lastPage":"4785","volume":"15"},"referencePositions":["NUCLEOTIDE SEQUENCE [GENOMIC DNA]","TISSUE SPECIFICITY"],"referenceComments":[{"value":"Retina","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"15057823","citationType":"journal article","authors":["Dunham A.","Matthews L.H.","Burton J.","Ashurst J.L.","Howe K.L.","Ashcroft K.J.","Beare D.M.","Burford D.C.","Hunt S.E.","Griffiths-Jones S.","Jones M.C.","Keenan S.J.","Oliver K.","Scott C.E.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Andrews D.T.","Ashwell R.I.S.","Babbage A.K.","Bagguley C.L.","Bailey J.","Bannerjee R.","Barlow K.F.","Bates K.","Beasley H.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burrill W.","Carder C.","Carter N.P.","Chapman J.C.","Clamp M.E.","Clark S.Y.","Clarke G.","Clee C.M.","Clegg S.C.","Cobley V.","Collins J.E.","Corby N.","Coville G.J.","Deloukas P.","Dhami P.","Dunham I.","Dunn M.","Earthrowl M.E.","Ellington A.G.","Faulkner L.","Frankish A.G.","Frankland J.","French L.","Garner P.","Garnett J.","Gilbert J.G.R.","Gilson C.J.","Ghori J.","Grafham D.V.","Gribble S.M.","Griffiths C.","Hall R.E.","Hammond S.","Harley J.L.","Hart E.A.","Heath P.D.","Howden P.J.","Huckle E.J.","Hunt P.J.","Hunt A.R.","Johnson C.","Johnson D.","Kay M.","Kimberley A.M.","King A.","Laird G.K.","Langford C.J.","Lawlor S.","Leongamornlert D.A.","Lloyd D.M.","Lloyd C.","Loveland J.E.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","McLaren S.J.","McMurray A.","Milne S.","Moore M.J.F.","Nickerson T.","Palmer S.A.","Pearce A.V.","Peck A.I.","Pelan S.","Phillimore B.","Porter K.M.","Rice C.M.","Searle S.","Sehra H.K.","Shownkeen R.","Skuce C.D.","Smith M.","Steward C.A.","Sycamore N.","Tester J.","Thomas D.W.","Tracey A.","Tromans A.","Tubby B.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Wilming L.","Wray P.W.","Wright M.W.","Young L.","Coulson A.","Durbin R.M.","Hubbard T.","Sulston J.E.","Beck S.","Bentley D.R.","Rogers J.","Ross M.T."],"citationCrossReferences":[{"database":"PubMed","id":"15057823"},{"database":"DOI","id":"10.1038/nature02379"}],"title":"The DNA sequence and analysis of human chromosome 13.","publicationDate":"2004","journal":"Nature","firstPage":"522","lastPage":"528","volume":"428"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]","VARIANT GLY-163 DEL"]},{"referenceNumber":5,"citation":{"id":"CI-5GBDQ6B103N1E","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]","VARIANT GLY-163 DEL"]},{"referenceNumber":6,"citation":{"id":"12934100","citationType":"journal article","authors":["Calissano M.","Latchman D.S."],"citationCrossReferences":[{"database":"PubMed","id":"12934100"},{"database":"DOI","id":"10.1038/sj.onc.1206635"}],"title":"Functional interaction between the small GTP-binding protein Rin and the N-terminal of Brn-3a transcription factor.","publicationDate":"2003","journal":"Oncogene","firstPage":"5408","lastPage":"5414","volume":"22"},"referencePositions":["SUBCELLULAR LOCATION"]},{"referenceNumber":7,"citation":{"id":"33783914","citationType":"journal article","authors":["Webb B.D.","Evans A.","Naidich T.P.","Bird L.M.","Parikh S.","Fernandez Garcia M.","Henderson L.B.","Millan F.","Si Y.","Brennand K.J.","Hung P.","Rucker J.C.","Wheeler P.G.","Schadt E.E."],"citationCrossReferences":[{"database":"PubMed","id":"33783914"},{"database":"DOI","id":"10.1002/humu.24201"}],"title":"Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.","publicationDate":"2021","journal":"Hum. Mutat.","firstPage":"685","lastPage":"693","volume":"42"},"referencePositions":["INVOLVEMENT IN ATITHS","VARIANT ATITHS ARG-306","CHARACTERIZATION OF VARIANT ATITHS ARG-306"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"L20433","properties":[{"key":"ProteinId","value":"AAA65605.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"U10063","properties":[{"key":"ProteinId","value":"AAA57161.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"U10062","properties":[{"key":"ProteinId","value":"AAA57161.1"},{"key":"Status","value":"JOINED"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL445209","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471093","properties":[{"key":"ProteinId","value":"EAW80585.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"X64624","properties":[{"key":"ProteinId","value":"CAA45907.1"},{"key":"Status","value":"ALT_FRAME"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS31996.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q01851-1"},{"database":"PIR","id":"I59234","properties":[{"key":"EntryName","value":"I59234"}]},{"database":"PIR","id":"S78452","properties":[{"key":"EntryName","value":"S78452"}]},{"database":"RefSeq","id":"NP_006228.3","properties":[{"key":"NucleotideSequenceId","value":"NM_006237.4"}],"isoformId":"Q01851-1"},{"database":"AlphaFoldDB","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"111453","properties":[{"key":"Interactions","value":"7"}]},{"database":"FunCoup","id":"Q01851","properties":[{"key":"Number of interactors","value":"2307"}]},{"database":"IntAct","id":"Q01851","properties":[{"key":"Interactions","value":"4"}]},{"database":"MINT","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-POU4F1","properties":[{"key":"Evidences","value":"2 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000366413","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q01851","properties":[{"key":"glycosylation","value":"1 site"}]},{"database":"iPTMnet","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"POU4F1","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"334302933","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000366413","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"58010","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"24689","properties":[{"key":"antibodies","value":"163 antibodies from 32 providers"}]},{"database":"DNASU","id":"5457","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000377208.7","properties":[{"key":"ProteinId","value":"ENSP00000366413.4"},{"key":"GeneId","value":"ENSG00000152192.8"}],"isoformId":"Q01851-1"},{"database":"GeneID","id":"5457","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:5457","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000377208.7","properties":[{"key":"ProteinId","value":"ENSP00000366413.4"},{"key":"RefSeqNucleotideId","value":"NM_006237.4"},{"key":"RefSeqProteinId","value":"NP_006228.3"}]},{"database":"UCSC","id":"uc001vkv.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q01851-1"},{"database":"AGR","id":"HGNC:9218","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA33542","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"5457","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"5457","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"POU4F1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:9218","properties":[{"key":"GeneName","value":"POU4F1"}]},{"database":"HPA","id":"ENSG00000152192","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (retina)"}]},{"database":"MalaCards","id":"POU4F1","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"601632","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"619352","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000152192","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"314647","properties":[{"key":"Disease","value":"Non-progressive cerebellar ataxia with intellectual disability"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000152192","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG1168","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000162154","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_013065_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"AHSHMHG","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6358449at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q01851","properties":[{"key":"Number of GO annotations","value":"3 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-6804759","properties":[{"key":"PathwayName","value":"Regulation of TP53 Activity through Association with Co-factors"}]},{"database":"SignaLink","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000152192","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"5457","properties":[{"key":"hits","value":"10 hits in 1181 CRISPR screens"}]},{"database":"GeneWiki","id":"POU4F1","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"5457","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q01851","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q01851","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 13"}]},{"database":"RNAct","id":"Q01851","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000152192","properties":[{"key":"ExpressionPatterns","value":"Expressed in secondary oocyte and 39 other cell types or tissues"}]},{"database":"GO","id":"GO:0000785","properties":[{"key":"GoTerm","value":"C:chromatin"},{"key":"GoEvidenceType","value":"ISA:NTNU_SB"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043005","properties":[{"key":"GoTerm","value":"C:neuron projection"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"TAS:Reactome"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12934100"}]},{"database":"GO","id":"GO:0090575","properties":[{"key":"GoTerm","value":"C:RNA polymerase II transcription regulator complex"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0003682","properties":[{"key":"GoTerm","value":"F:chromatin binding"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0001228","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription activator activity, RNA polymerase II-specific"},{"key":"GoEvidenceType","value":"ISS:GO_Central"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"18421303"}]},{"database":"GO","id":"GO:0000981","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription factor activity, RNA polymerase II-specific"},{"key":"GoEvidenceType","value":"IDA:ParkinsonsUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"23805044"}]},{"database":"GO","id":"GO:0001227","properties":[{"key":"GoTerm","value":"F:DNA-binding transcription repressor activity, RNA polymerase II-specific"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"18421303"}]},{"database":"GO","id":"GO:0051020","properties":[{"key":"GoTerm","value":"F:GTPase binding"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0000978","properties":[{"key":"GoTerm","value":"F:RNA polymerase II cis-regulatory region sequence-specific DNA binding"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0061629","properties":[{"key":"GoTerm","value":"F:RNA polymerase II-specific DNA-binding transcription factor binding"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0043565","properties":[{"key":"GoTerm","value":"F:sequence-specific DNA binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:1990837","properties":[{"key":"GoTerm","value":"F:sequence-specific double-stranded DNA binding"},{"key":"GoEvidenceType","value":"IDA:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"28473536"}]},{"database":"GO","id":"GO:0003697","properties":[{"key":"GoTerm","value":"F:single-stranded DNA binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0007409","properties":[{"key":"GoTerm","value":"P:axonogenesis"},{"key":"GoEvidenceType","value":"TAS:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"17239249"}]},{"database":"GO","id":"GO:0071345","properties":[{"key":"GoTerm","value":"P:cellular response to cytokine stimulus"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0071392","properties":[{"key":"GoTerm","value":"P:cellular response to estradiol stimulus"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0007507","properties":[{"key":"GoTerm","value":"P:heart development"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}]},{"database":"GO","id":"GO:0060384","properties":[{"key":"GoTerm","value":"P:innervation"},{"key":"GoEvidenceType","value":"TAS:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"17239249"}]},{"database":"GO","id":"GO:0072332","properties":[{"key":"GoTerm","value":"P:intrinsic apoptotic signaling pathway by p53 class mediator"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043066","properties":[{"key":"GoTerm","value":"P:negative regulation of apoptotic process"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"18421303"}]},{"database":"GO","id":"GO:0010629","properties":[{"key":"GoTerm","value":"P:negative regulation of gene expression"},{"key":"GoEvidenceType","value":"ISS:ARUK-UCL"}]},{"database":"GO","id":"GO:0043524","properties":[{"key":"GoTerm","value":"P:negative regulation of neuron apoptotic process"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043069","properties":[{"key":"GoTerm","value":"P:negative regulation of programmed cell death"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0000122","properties":[{"key":"GoTerm","value":"P:negative regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"18421303"}]},{"database":"GO","id":"GO:0048665","properties":[{"key":"GoTerm","value":"P:neuron fate specification"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0031175","properties":[{"key":"GoTerm","value":"P:neuron projection development"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0048935","properties":[{"key":"GoTerm","value":"P:peripheral nervous system neuron development"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0010628","properties":[{"key":"GoTerm","value":"P:positive regulation of gene expression"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045672","properties":[{"key":"GoTerm","value":"P:positive regulation of osteoclast differentiation"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045944","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IDA:ParkinsonsUK-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"18421303"}]},{"database":"GO","id":"GO:2000679","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription regulatory region DNA binding"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0051726","properties":[{"key":"GoTerm","value":"P:regulation of cell cycle"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0006357","properties":[{"key":"GoTerm","value":"P:regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0048880","properties":[{"key":"GoTerm","value":"P:sensory system development"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0007416","properties":[{"key":"GoTerm","value":"P:synapse assembly"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"8995448"}]},{"database":"GO","id":"GO:0021559","properties":[{"key":"GoTerm","value":"P:trigeminal nerve development"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}]},{"database":"GO","id":"GO:0003223","properties":[{"key":"GoTerm","value":"P:ventricular compact myocardium morphogenesis"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"CDD","id":"cd00086","properties":[{"key":"EntryName","value":"homeodomain"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"1.10.10.60:FF:000056","properties":[{"key":"EntryName","value":"POU domain protein"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"1.10.260.40:FF:000007","properties":[{"key":"EntryName","value":"POU domain protein"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.10.10.60","properties":[{"key":"EntryName","value":"Homeodomain-like"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.10.260.40","properties":[{"key":"EntryName","value":"lambda repressor-like DNA-binding domains"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR001356","properties":[{"key":"EntryName","value":"HD"}]},{"database":"InterPro","id":"IPR017970","properties":[{"key":"EntryName","value":"Homeobox_CS"}]},{"database":"InterPro","id":"IPR009057","properties":[{"key":"EntryName","value":"Homeodomain-like_sf"}]},{"database":"InterPro","id":"IPR010982","properties":[{"key":"EntryName","value":"Lambda_DNA-bd_dom_sf"}]},{"database":"InterPro","id":"IPR013847","properties":[{"key":"EntryName","value":"POU"}]},{"database":"InterPro","id":"IPR000327","properties":[{"key":"EntryName","value":"POU_dom"}]},{"database":"InterPro","id":"IPR050255","properties":[{"key":"EntryName","value":"POU_domain_TF"}]},{"database":"PANTHER","id":"PTHR11636","properties":[{"key":"EntryName","value":"POU DOMAIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR11636:SF42","properties":[{"key":"EntryName","value":"POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00046","properties":[{"key":"EntryName","value":"Homeodomain"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00157","properties":[{"key":"EntryName","value":"Pou"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00028","properties":[{"key":"EntryName","value":"POUDOMAIN"}]},{"database":"SMART","id":"SM00389","properties":[{"key":"EntryName","value":"HOX"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00352","properties":[{"key":"EntryName","value":"POU"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF46689","properties":[{"key":"EntryName","value":"Homeodomain-like"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF47413","properties":[{"key":"EntryName","value":"lambda repressor-like DNA-binding domains"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00027","properties":[{"key":"EntryName","value":"HOMEOBOX_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50071","properties":[{"key":"EntryName","value":"HOMEOBOX_2"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00035","properties":[{"key":"EntryName","value":"POU_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00465","properties":[{"key":"EntryName","value":"POU_2"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51179","properties":[{"key":"EntryName","value":"POU_3"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MMSMNSKQPHFAMHPTLPEHKYPSLHSSSEAIRRACLPTPPLQSNLFASLDETLLARAEALAAVDIAVSQGKSHPFKPDATYHTMNSVPCTSTSTVPLAHHHHHHHHHQALEPGDLLDHISSPSLALMAGAGGAGAAAGGGGAHDGPGGGGGPGGGGGPGGGPGGGGGGGPGGGGGGPGGGLLGGSAHPHPHMHSLGHLSHPAAAAAMNMPSGLPHPGLVAAAAHHGAAAAAAAAAAGQVAAASAAAAVVGAAGLASICDSDTDPRELEAFAERFKQRRIKLGVTQADVGSALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPILQAWLEEAEGAQREKMNKPELFNGGEKKRKRTSIAAPEKRSLEAYFAVQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKFSATY","length":419,"molWeight":42697,"crc64":"6EDC2A2082F95F23","md5":"6437897484CB77A727CC368A434BB27E"},"extraAttributes":{"countByCommentType":{"FUNCTION":2,"SUBUNIT":1,"INTERACTION":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"TISSUE SPECIFICITY":1,"DEVELOPMENTAL STAGE":1,"DOMAIN":1,"DISEASE":1,"SIMILARITY":1,"SEQUENCE CAUTION":1,"WEB RESOURCE":1},"countByFeatureType":{"Chain":1,"Domain":1,"DNA binding":1,"Region":2,"Motif":1,"Compositional bias":2,"Alternative sequence":1,"Natural variant":2,"Sequence conflict":12},"uniParcId":"UPI000013DCAA"}}]}