2024-03-28 22:45:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002700 1182 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA. ACCESSION NM_002700 VERSION NM_002700.2 GI:225735566 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 1182) AUTHORS Lee,H.K., Park,H.J., Lee,K.Y., Park,R. and Kim,U.K. TITLE A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss JOURNAL Biochem. Biophys. Res. Commun. 396 (3), 626-630 (2010) PUBMED 20434433 REMARK GeneRIF: This is the first report of a POU4F3 mutation in Asia, and moreover our data suggest that further investigation will need to delineate ethnicity-specific genetic background for autosomal dominant non-syndromic hearing loss within Asian populations. Erratum:[Biochem Biophys Res Commun. 2010 Aug 6;398(4):790] REFERENCE 2 (bases 1 to 1182) AUTHORS de Heer,A.M., Huygen,P.L., Collin,R.W., Kremer,H. and Cremers,C.W. TITLE Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3 JOURNAL Ann. Otol. Rhinol. Laryngol. 118 (4), 313-320 (2009) PUBMED 19462854 REMARK GeneRIF: Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. REFERENCE 3 (bases 1 to 1182) AUTHORS van Drunen,F.J., Pauw,R.J., Collin,R.W., Kremer,H., Huygen,P.L. and Cremers,C.W. TITLE Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3 JOURNAL Audiol. Neurootol. 14 (5), 303-307 (2009) PUBMED 19372648 REMARK GeneRIF: extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia in cochleovestibular disease REFERENCE 4 (bases 1 to 1182) AUTHORS Pauw,R.J., van Drunen,F.J., Collin,R.W., Huygen,P.L., Kremer,H. and Cremers,C.W. TITLE Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 JOURNAL Arch. Otolaryngol. Head Neck Surg. 134 (3), 294-300 (2008) PUBMED 18347256 REMARK GeneRIF: report presents a detailed audiometric analysis of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in the POU4F3 gene REFERENCE 5 (bases 1 to 1182) AUTHORS Frenz,C.M. and Lefebvre,P.P. TITLE Molecular modelling insights into DFNA15 mediated enhancement of POU4F3 stability JOURNAL Int J Comput Biol Drug Des 1 (3), 295-301 (2008) PUBMED 20054994 REMARK GeneRIF: Molecular modelling is utilised to propose a mechanism of stability enhancement, via an interaction between the truncated POU(HD) domain and the POU(S) domain of the transcription factor. REFERENCE 6 (bases 1 to 1182) AUTHORS Weiss,S., Gottfried,I., Mayrose,I., Khare,S.L., Xiang,M., Dawson,S.J. and Avraham,K.B. TITLE The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity JOURNAL Mol. Cell. Biol. 23 (22), 7957-7964 (2003) PUBMED 14585957 REMARK GeneRIF: Mutant POU4F3 loses most of its transcriptional activity and most of its ability to bind to DNA. The mutation causes autosomal-dominant nonsyndromic hearing loss and eventually leads to hair cell morbidity in affected family H members. REFERENCE 7 (bases 1 to 1182) AUTHORS Leonard,J.H., Cook,A.L., Van Gele,M., Boyle,G.M., Inglis,K.J., Speleman,F. and Sturm,R.A. TITLE Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma JOURNAL Int. J. Cancer 101 (2), 103-110 (2002) PUBMED 12209986 REMARK GeneRIF: Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma Erratum:[Int J Cancer. 2004 Dec 20;112(6):1086] REFERENCE 8 (bases 1 to 1182) AUTHORS Vahava,O., Morell,R., Lynch,E.D., Weiss,S., Kagan,M.E., Ahituv,N., Morrow,J.E., Lee,M.K., Skvorak,A.B., Morton,C.C., Blumenfeld,A., Frydman,M., Friedman,T.B., King,M.C. and Avraham,K.B. TITLE Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans JOURNAL Science 279 (5358), 1950-1954 (1998) PUBMED 9506947 REFERENCE 9 (bases 1 to 1182) AUTHORS Erkman,L., McEvilly,R.J., Luo,L., Ryan,A.K., Hooshmand,F., O'Connell,S.M., Keithley,E.M., Rapaport,D.H., Ryan,A.F. and Rosenfeld,M.G. TITLE Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development JOURNAL Nature 381 (6583), 603-606 (1996) PUBMED 8637595 REFERENCE 10 (bases 1 to 1182) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011396.4. This sequence is a reference standard in the RefSeqGene project. On Mar 28, 2009 this sequence version replaced gi:4505964. Summary: This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. 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 :: BC104923.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025092 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-209 AC011396.4 77453-77661 c 210-1182 AC011396.4 76165-77137 c FEATURES Location/Qualifiers source 1..1182 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q32" gene 1..1182 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /note="POU class 4 homeobox 3" /db_xref="GeneID:5459" /db_xref="HGNC:9220" /db_xref="HPRD:03911" /db_xref="MIM:602460" STS 1..1182 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /db_xref="UniSTS:483311" exon 1..209 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /inference="alignment:Splign:1.39.8" misc_feature 48..50 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /note="upstream in-frame stop codon" variation 64 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:374959341" CDS 90..1106 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /note="brn-3C; brain-3C; brain-specific homeobox/POU domain protein 3C" /codon_start=1 /product="POU domain, class 4, transcription factor 3" /protein_id="NP_002691.1" /db_xref="GI:4505965" /db_xref="CCDS:CCDS4281.1" /db_xref="GeneID:5459" /db_xref="HGNC:9220" /db_xref="HPRD:03911" /db_xref="MIM:602460" /translation="
MMAMNSKQPFGMHPVLQEPKFSSLHSGSEAMRRVCLPAPQLQGNIFGSFDESLLARAEALAAVDIVSHGKNHPFKPDATYHTMSSVPCTSTSSTVPISHPAALTSHPHHAVHQGLEGDLLEHISPTLSVSGLGAPEHSVMPAQIHPHHLGAMGHLHQAMGMSHPHTVAPHSAMPACLSDVESDPRELEAFAERFKQRRIKLGVTQADVGAALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPVLQAWLEEAEAAYREKNSKPELFNGSERKRKRTSIAAPEKRSLEAYFAIQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKYSAVH
" misc_feature 255..284 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15319.1); Region: POU-IV box" misc_feature 624..857 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /note="Found in Pit-Oct-Unc transcription factors; Region: POU; smart00352" /db_xref="CDD:197673" misc_feature 912..1088 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /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(912..926,930..932,981..983,999..1001,1038..1040, 1044..1049,1056..1061,1065..1073,1077..1082) /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(918..920,927..929,1047..1049,1056..1061,1068..1070) /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" STS 90..1106 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /db_xref="UniSTS:481349" variation 115 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:377108685" variation 119 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:369422757" STS 137..688 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /standard_name="Pou4f3" /db_xref="UniSTS:276146" variation 159 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:142405319" variation 179 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:28994879" variation 192 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:147927112" exon 210..1182 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /inference="alignment:Splign:1.39.8" variation 211 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:140527422" variation 268 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:150485964" variation 280 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:200080568" variation 303 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="g" /db_xref="dbSNP:370712489" variation 319 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:138310635" variation 321 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:148830499" variation 334 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:145218099" variation 337 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:369750656" variation 342 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="t" /db_xref="dbSNP:377611813" variation 350 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:137955775" variation 370 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:200817820" variation 371 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="g" /db_xref="dbSNP:142447260" variation 377 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:146014340" variation 386 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:78523542" variation 398 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:141235724" variation 419 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:150802201" variation 467 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:113137300" variation 492 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:200286254" variation 494 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:145372405" variation 510 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="c" /db_xref="dbSNP:139312280" variation 512 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:140857174" variation 517 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:368466009" variation 566 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:144725680" variation 578 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:145741257" variation 579 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:372436251" variation 580 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:367737951" variation 598 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:374993918" variation 602 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="c" /db_xref="dbSNP:148985828" variation 606 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="t" /db_xref="dbSNP:142910284" variation 610 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="c" /db_xref="dbSNP:112188700" variation 615 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="g" /replace="t" /db_xref="dbSNP:368239745" variation 638 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="c" /db_xref="dbSNP:371111393" variation 752 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="c" /db_xref="dbSNP:61737151" variation 757 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:121909057" variation 778 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:369368461" variation 815 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="c" /db_xref="dbSNP:374487362" variation 817 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:373030800" variation 827 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="g" /replace="t" /db_xref="dbSNP:368459497" variation 831 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:141089759" variation 838 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:371875449" variation 855 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="g" /replace="t" /db_xref="dbSNP:202212413" variation 881 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:149975083" variation 888 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="g" /db_xref="dbSNP:137882322" variation 900 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="g" /db_xref="dbSNP:375230760" variation 919 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:140750705" variation 922 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:113824781" variation 923 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:370087069" variation 926 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="g" /replace="t" /db_xref="dbSNP:6885298" variation 938 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="g" /replace="t" /db_xref="dbSNP:138424542" variation 954 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:121909056" variation 983 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="t" /db_xref="dbSNP:373534299" variation 1037 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="g" /db_xref="dbSNP:149303333" variation 1122 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:13169862" variation 1135 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="a" /replace="g" /db_xref="dbSNP:201569184" variation 1142 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="g" /db_xref="dbSNP:369204165" variation 1154 /gene="POU4F3" /gene_synonym="BRN3C; DFNA15" /replace="c" /replace="t" /db_xref="dbSNP:372538637" ORIGIN
cgctgagcagcgctcacttggagagcggcaagcaagctagacaagcctgattccatgtcacccgctgccaccctgccaggagcgcgaagatgatggccatgaactccaagcagcctttcggcatgcacccggtgctgcaagaacccaaattctccagtctgcactctggctccgaggccatgcgccgagtctgtctcccagccccgcagctgcagggtaatatatttggaagctttgatgagagcctgctggcacgcgccgaagctctggcggcggtggatatcgtctcccacggcaagaaccatccgttcaagcccgacgccacctaccataccatgagcagcgtgccctgcacgtccacttcgtccaccgtgcccatctcccacccagctgcgctcacctcacaccctcaccacgccgtgcaccagggcctcgaaggcgacctgctggagcacatctcgcccacgctgagtgtgagcggcctgggcgctccggaacactcggtgatgcccgcacagatccatccacaccacctgggcgccatgggccacctgcaccaggccatgggcatgagtcacccgcacaccgtggcccctcatagcgccatgcctgcatgcctcagcgacgtggagtcagacccgcgcgagctggaagccttcgccgagcgcttcaagcagcggcgcatcaagctgggggtgacccaggcggacgtgggcgcggctctggctaatctcaagatccccggcgtgggctcgctgagccaaagcaccatctgcaggttcgagtctctcactctctcgcacaacaacatgatcgctctcaagccggtgctccaggcctggttggaggaggccgaggccgcctaccgagagaagaacagcaagccagagctcttcaacggcagcgaacggaagcgcaaacgcacgtccatcgcggcgccggagaagcgttcactcgaggcctatttcgctatccagccacgtccttcatctgagaagatcgcggccatcgctgagaaactggaccttaaaaagaacgtggtgagagtctggttctgcaaccagagacagaaacagaaacgaatgaagtattcggctgtccactgattgcggcagggcgcagcgtcgggagccgggagagcctagtgctcatccctcccgggttcgggggatggttatcggg
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5459 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:5459 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:5459 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:5459 -> Biological process: GO:0007601 [visual perception] evidence: TAS GeneID:5459 -> Biological process: GO:0007605 [sensory perception of sound] evidence: IEA GeneID:5459 -> Biological process: GO:0021562 [vestibulocochlear nerve development] evidence: IEA GeneID:5459 -> Biological process: GO:0031290 [retinal ganglion cell axon guidance] evidence: IEA GeneID:5459 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA GeneID:5459 -> Biological process: GO:0042491 [auditory receptor cell differentiation] evidence: IEA GeneID:5459 -> Biological process: GO:0048675 [axon extension] evidence: IEA GeneID:5459 -> Biological process: GO:0050885 [neuromuscular process controlling balance] evidence: IEA GeneID:5459 -> Biological process: GO:0051402 [neuron apoptotic process] evidence: IEA GeneID:5459 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:5459 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
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