2025-05-09 19:17:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006237 3817 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA. ACCESSION NM_006237 XM_001127734 XM_001133287 VERSION NM_006237.3 GI:110347448 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3817) AUTHORS Faryna,M., Konermann,C., Aulmann,S., Bermejo,J.L., Brugger,M., Diederichs,S., Rom,J., Weichenhan,D., Claus,R., Rehli,M., Schirmacher,P., Sinn,H.P., Plass,C. and Gerhauser,C. TITLE Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis JOURNAL FASEB J. 26 (12), 4937-4950 (2012) PUBMED 22930747 REMARK GeneRIF: Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis. REFERENCE 2 (bases 1 to 3817) AUTHORS Dunne,J., Mannari,D., Farzaneh,T., Gessner,A., van Delft,F.W., Heidenreich,O., Young,B.D. and Gascoyne,D.M. TITLE AML1/ETO and POU4F1 synergy drives B-lymphoid gene expression typical of t(8;21) acute myeloid leukemia JOURNAL Leukemia 26 (5), 1131-1135 (2012) PUBMED 22064348 REMARK GeneRIF: PoU4F1 is highly expressed in t(8;21) samples, with AML/ETO appearning to promote some BRN3A expression REFERENCE 3 (bases 1 to 3817) AUTHORS Das Purkayastha,B.P. and Roy,J.K. TITLE Molecular analysis of oncogenicity of the transcription factor, BRN3A, in cervical cancer cells JOURNAL J. Cancer Res. Clin. Oncol. 137 (12), 1859-1867 (2011) PUBMED 21928122 REMARK GeneRIF: BRN3A possesses anti-apoptotic property, and considering the above results, it may be regarded as the key component in promoting tumorigenic growth in the uterine cervical cells. REFERENCE 4 (bases 1 to 3817) AUTHORS Fortier,J.M., Payton,J.E., Cahan,P., Ley,T.J., Walter,M.J. and Graubert,T.A. TITLE POU4F1 is associated with t(8;21) acute myeloid leukemia and contributes directly to its unique transcriptional signature JOURNAL Leukemia 24 (5), 950-957 (2010) PUBMED 20376082 REMARK GeneRIF: Dysregulation of POU4F1 is associated with t(8;21) acute myeloid leukemia. REFERENCE 5 (bases 1 to 3817) AUTHORS Smith,M.D., Dawson,S.J. and Latchman,D.S. TITLE Inhibition of neuronal process outgrowth and neuronal specific gene activation by the Brn-3b transcription factor JOURNAL J. Biol. Chem. 272 (2), 1382-1388 (1997) PUBMED 8995448 REFERENCE 6 (bases 1 to 3817) AUTHORS Still,I.H. and Cowell,J. TITLE The Brn-3a transcription factor gene (POU4F1) maps close to the locus for the variant late infantile form of neuronal ceroid-lipofuscinosis JOURNAL Cytogenet. Cell Genet. 74 (3), 225-226 (1996) PUBMED 8941380 REFERENCE 7 (bases 1 to 3817) AUTHORS Xiang,M., Zhou,L., Macke,J.P., Yoshioka,T., Hendry,S.H., Eddy,R.L., Shows,T.B. and Nathans,J. TITLE The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons JOURNAL J. Neurosci. 15 (7 PT 1), 4762-4785 (1995) PUBMED 7623109 REFERENCE 8 (bases 1 to 3817) AUTHORS Gerrero,M.R., McEvilly,R.J., Turner,E., Lin,C.R., O'Connell,S., Jenne,K.J., Hobbs,M.V. and Rosenfeld,M.G. TITLE Brn-3.0: a POU-domain protein expressed in the sensory, immune, and endocrine systems that functions on elements distinct from known octamer motifs JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (22), 10841-10845 (1993) PUBMED 8248179 REFERENCE 9 (bases 1 to 3817) AUTHORS Bhargava,A.K., Li,Z. and Weissman,S.M. TITLE Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (21), 10260-10264 (1993) PUBMED 8234287 REFERENCE 10 (bases 1 to 3817) 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. et al. TITLE A novel POU homeodomain gene specifically expressed in cells of the developing mammalian nervous system JOURNAL Nucleic Acids Res. 20 (18), 4919-4925 (1992) PUBMED 1357630 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from L20433.1, AL445209.4, BM714015.1, N74107.1 and BM726529.1. On or before Nov 22, 2006 this sequence version replaced gi:113424090, gi:113424417, gi:20127494. Summary: This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L20433.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025089 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-720 L20433.1 1-720 721-940 AL445209.4 119191-119410 c 941-2341 L20433.1 944-2344 2342-2343 AL445209.4 117788-117789 c 2344-3477 L20433.1 2347-3480 3478-3727 BM714015.1 153-402 3728-3742 N74107.1 1-15 c 3743-3817 BM726529.1 1-75 FEATURES Location/Qualifiers source 1..3817 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="13" /map="13q31.1" gene 1..3817 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="POU class 4 homeobox 1" /db_xref="GeneID:5457" /db_xref="HGNC:9218" /db_xref="MIM:601632" exon 1..357 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /inference="alignment:Splign:1.39.8" STS 9..1643 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /db_xref="UniSTS:484695" STS 214..1551 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /db_xref="UniSTS:495219" STS 228..380 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /standard_name="Pou4f1" /db_xref="UniSTS:254228" CDS 235..1494 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="brain-3A; homeobox/POU domain protein RDC-1; brain-specific homeobox/POU domain protein 3A" /codon_start=1 /product="POU domain, class 4, transcription factor 1" /protein_id="NP_006228.3" /db_xref="GI:110347449" /db_xref="CCDS:CCDS31996.1" /db_xref="GeneID:5457" /db_xref="HGNC:9218" /db_xref="MIM:601632" /translation="
MMSMNSKQPHFAMHPTLPEHKYPSLHSSSEAIRRACLPTPPLQSNLFASLDETLLARAEALAAVDIAVSQGKSHPFKPDATYHTMNSVPCTSTSTVPLAHHHHHHHHHQALEPGDLLDHISSPSLALMAGAGGAGAAAGGGGAHDGPGGGGGPGGGGGPGGGPGGGGGGGPGGGGGGPGGGLLGGSAHPHPHMHSLGHLSHPAAAAAMNMPSGLPHPGLVAAAAHHGAAAAAAAAAAGQVAAASAAAAVVGAAGLASICDSDTDPRELEAFAERFKQRRIKLGVTQADVGSALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPILQAWLEEAEGAQREKMNKPELFNGGEKKRKRTSIAAPEKRSLEAYFAVQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKFSATY
" misc_feature 403..432 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q01851.4); Region: POU-IV box" misc_feature 1012..1245 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="Found in Pit-Oct-Unc transcription factors; Region: POU; smart00352" /db_xref="CDD:197673" misc_feature 1300..1476 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(1300..1314,1318..1320,1369..1371,1387..1389, 1426..1428,1432..1437,1444..1449,1453..1461,1465..1470) /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(1306..1308,1315..1317,1435..1437,1444..1449, 1456..1458) /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" exon 358..3817 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /inference="alignment:Splign:1.39.8" misc_feature 1028..1466 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /note="label: POU" STS 1197..1470 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /standard_name="PMC125354P1" /db_xref="UniSTS:270492" STS 2249..2425 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /standard_name="RH70862" /db_xref="UniSTS:63339" STS 3332..3568 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /standard_name="RH17633" /db_xref="UniSTS:71511" variation 3408 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" /replace="a" /replace="g" /db_xref="dbSNP:200107331" polyA_signal 3712..3717 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" polyA_site 3737 /gene="POU4F1" /gene_synonym="brn-3A; BRN3A; Oct-T1; RDC-1" ORIGIN
gcggggctagagctgtcggagaagcgggaccgcgaggccggcgcgcggcgctctgcgcggtcagagggagcgcctggcagcagcaggagcagcagcagcagcccgcggcggggccgccgccagccgccgcgaccgccgcggctgcagcctccgaagggaggccgggtgagccggcgtacgcactttcccgcggactttcggagtgtttgtggatatacatgccaagccgccacgatgatgtccatgaacagcaagcagcctcactttgccatgcatcccaccctccctgagcacaagtacccgtcgctgcactccagctccgaggccatccggcgggcctgcctgcccacgccgccgctgcagagcaacctcttcgccagcctggacgagacgctgctggcgcgggccgaggcgctggcggccgtggacatcgccgtgtcccagggcaagagccatcctttcaagccggacgccacgtaccacacgatgaacagcgtgccgtgcacgtccacttccacggtgcctctggcgcaccaccaccaccaccaccaccaccaccaggcgctcgaacccggcgatctgctggaccacatctcctcgccgtcgctcgcgctcatggccggcgcgggcggcgcgggcgcggcggccggcggcggcggcgcccacgacggcccggggggcggtggcggcccgggcggcggcggcggcccgggcggcggccccgggggaggcggcggtggcggcccggggggcggcggcggcggcccgggcggcgggctcctgggcggctccgcgcaccctcacccgcatatgcacagcctgggccacctgtcgcaccccgcggcggcggccgccatgaacatgccgtccgggctgccgcaccccgggctggtggcggcggcggcgcaccacggcgcggcagcggcagcggcggcggcggcggccgggcaggtggcagcggcatcggcggcggcggccgtggtgggcgcagcgggcctggcgtccatctgcgactcggacacggacccgcgcgagctcgaggcgttcgcggagcgcttcaagcagcggcgcatcaagctgggcgtgacgcaggccgacgtgggctcggcgctggccaacctcaagatcccgggcgtgggctcactcagccagagcaccatctgcaggttcgagtcgctcacgctctcgcacaacaacatgatcgcgctcaagcccatcctgcaggcgtggctcgaggaggccgagggcgcccagcgcgagaaaatgaacaagcctgagctcttcaacggcggcgagaagaagcgcaagcggacttccatcgccgcgcccgagaagcgctccctcgaggcctacttcgccgtgcagccccggccctcgtccgagaagatcgccgccatcgccgagaaactggacctcaaaaagaacgtggtgcgggtgtggttttgcaaccagagacagaagcagaagcggatgaaattctctgccacttactgagggggctgggaggtgtcgggcgggacagaatggggagctgaggaggcatttttggggggctttcctctgcttgcctcccctcggatttggagtgtccgttatcctgcctgcatttggggagtcccttctcgctctctttcctccacccattctctgattttcctgcctttgctgtcccctagccttgaggactggggtgctgggtgtggggattggagtatagggtaggggagaagggggggagcattcgggggagtggggagtggggggaaggaaagcggagacccgagcaggggttttaaggagcaggatggttctggggtttgggtggggggagacgcgggaagggtaggaaaatggactgtttctgaccagagacacttacctaaatatcctggggaccaaggaactatgtacaaaaacaaacctaccaaccaccaaaaactagacaaataaagacaaactaaaacaaaacagaacaaaagcaaaggaaaatgctttagaaattttaactccggggagccataatctgcaacttcattttcccccatagaagagaaaaaagagcaccaccattattaccacctccccaaccctacacgcacgaactgagtcgaaaaacgaaaaccaaacgagcgagaagttgaagttctgggtatcaaagctagttgttctgtctgcgtgtttaatttttccctctctcacctccaccccatccatatcctctttatttcctccgttccaatgagaggcctatggctgctctccaatcccgggaagtgagtgggagcacagctgaaaagagagggtcagggggaggctggctgcttgcttaggtggaatccaagttttcccgtggccctgcctatactctggtggcctggtcctgttggggtgggggtctttggagagaagggcatagtctttgagctactaaaaagcagaattccggagcttcgagatatcttattctaggaaaatgaaacaattttaacaacagttttttttcctcttatgtcgaagatctagttttagacaatttcaaaataagcttttcccactcatagaactttaacttgccctttcagttttatcttttttttagagagaggtttaaactactgatttttcctgttgattcaaatagactaatggggtgaaagttattaggagagatactctctcctgttttctccactgaacgagactcatcttgctcttctaggtcccgtttcttcctctcttggaggacatgaaattatagaaatgttgagaagttcctgctttcttttgcggtaggacttggctgtgagaaaatcacctaaatcccagaaaagaggaagacagatttaaagtgcccccacccccatttgtttcaaagaggtctgcatgttgggcgaaaacagaacaactgtgtttccttttacttgttcttattattcaagagtcatttattacaggggataaatgttgggtagcaagaactttaatttgcactaccagtctcccaaatagaaaatcatgtatagtatttcatagtaataatcaggtaccttacaagctgctggtggattttaaaaaattaagatagttgaaggtggttaggtaaaatgcctgctttgtgtacaagatactctttggatctctcgtagagatggtttgttaccatcctttaatcataactaaaacattgaaaacagaacaaatgagaaaagaaaaaaaacctgccgattaacaagactgaaatcatgcatgatctgaaaggtgtggaaagaaacacaattaggtctcactctggttaggcattatttatttaattatgttgtatatcattgtttgcagggcaaacattctatgcatttgaaactgagcactaaactgggctagctttctggtagaccgttttgtggctagtgcgatttcacagtctactgcctgtttccactgaaaacatttttgtcatattcttgtattcaaagaaaaaggaaaaaagattattgtaaatattttatttaatgcacacattcacacagtggtaacagactgccagtgttcatcctgaaatgtctcacggattgatctacctgtccatgtatgtctgctgagctttctccttggttatgttttttctcttttacctttctcctcccttacttctatcagaaccaattctatgcgccaaaatacaacagggggatgtgtcccagtacacttacaaataaaacataactgaaagaagagcagttttatgatttgggtgcgtttttgtgtttatactgggccaggtcctggtagaacctttcaacaaacaaccaaacaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5457 -> Molecular function: GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding] evidence: ISS GeneID:5457 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IEA GeneID:5457 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: ISS GeneID:5457 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: ISS GeneID:5457 -> Biological process: GO:0001967 [suckling behavior] evidence: IEA GeneID:5457 -> Biological process: GO:0003223 [ventricular compact myocardium morphogenesis] evidence: IEA GeneID:5457 -> Biological process: GO:0007409 [axonogenesis] evidence: TAS GeneID:5457 -> Biological process: GO:0007416 [synapse assembly] evidence: TAS GeneID:5457 -> Biological process: GO:0007498 [mesoderm development] evidence: IEA GeneID:5457 -> Biological process: GO:0021535 [cell migration in hindbrain] evidence: IEA GeneID:5457 -> Biological process: GO:0021559 [trigeminal nerve development] evidence: ISS GeneID:5457 -> Biological process: GO:0021953 [central nervous system neuron differentiation] evidence: IEA GeneID:5457 -> Biological process: GO:0021986 [habenula development] evidence: IEA GeneID:5457 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IEA GeneID:5457 -> Biological process: GO:0043524 [negative regulation of neuron apoptotic process] evidence: TAS GeneID:5457 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS GeneID:5457 -> Biological process: GO:0048665 [neuron fate specification] evidence: ISS GeneID:5457 -> Biological process: GO:0048880 [sensory system development] evidence: ISS GeneID:5457 -> Biological process: GO:0048935 [peripheral nervous system neuron development] evidence: ISS GeneID:5457 -> Biological process: GO:0050767 [regulation of neurogenesis] evidence: IEA GeneID:5457 -> Biological process: GO:0051355 [proprioception involved in equilibrioception] evidence: IEA GeneID:5457 -> Biological process: GO:0060384 [innervation] evidence: TAS GeneID:5457 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IEA GeneID:5457 -> Cellular component: GO:0043005 [neuron projection] evidence: IEA
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