2025-05-09 19:54:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002699 2928 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens POU class 3 homeobox 1 (POU3F1), mRNA. ACCESSION NM_002699 VERSION NM_002699.3 GI:110624764 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 2928) AUTHORS Velez Edwards,D.R., Naj,A.C., Monda,K., North,K.E., Neuhouser,M., Magvanjav,O., Kusimo,I., Vitolins,M.Z., Manson,J.E., O'Sullivan,M.J., Rampersaud,E. and Edwards,T.L. TITLE Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study JOURNAL Hum. Genet. 132 (3), 323-336 (2013) PUBMED 23192594 REFERENCE 2 (bases 1 to 2928) AUTHORS Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B. CONSRTM GIANT Consortium; MAGIC Consortium; GLGC Consortium TITLE Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women JOURNAL PLoS Genet. 8 (5), E1002695 (2012) PUBMED 22589738 REFERENCE 3 (bases 1 to 2928) AUTHORS Sun,J.Z., Yang,X.X., Li,X.H., Xu,W.W., Wang,Y., Zhu,W. and Li,M. TITLE Aberrant CpG island hypermethylation and down-regulation of Oct-6 mRNA expression in human hepatocellular carcinoma JOURNAL Dig. Dis. Sci. 56 (10), 3072-3077 (2011) PUBMED 21448695 REMARK GeneRIF: CpG island hypermethylation contributes to down-regulation of Oct-6 mRNA expression in hepatocellular carcinoma. REFERENCE 4 (bases 1 to 2928) AUTHORS Stahl,E.A., Raychaudhuri,S., Remmers,E.F., Xie,G., Eyre,S., Thomson,B.P., Li,Y., Kurreeman,F.A., Zhernakova,A., Hinks,A., Guiducci,C., Chen,R., Alfredsson,L., Amos,C.I., Ardlie,K.G., Barton,A., Bowes,J., Brouwer,E., Burtt,N.P., Catanese,J.J., Coblyn,J., Coenen,M.J., Costenbader,K.H., Criswell,L.A., Crusius,J.B., Cui,J., de Bakker,P.I., De Jager,P.L., Ding,B., Emery,P., Flynn,E., Harrison,P., Hocking,L.J., Huizinga,T.W., Kastner,D.L., Ke,X., Lee,A.T., Liu,X., Martin,P., Morgan,A.W., Padyukov,L., Posthumus,M.D., Radstake,T.R., Reid,D.M., Seielstad,M., Seldin,M.F., Shadick,N.A., Steer,S., Tak,P.P., Thomson,W., van der Helm-van Mil,A.H., van der Horst-Bruinsma,I.E., van der Schoot,C.E., van Riel,P.L., Weinblatt,M.E., Wilson,A.G., Wolbink,G.J., Wordsworth,B.P., Wijmenga,C., Karlson,E.W., Toes,R.E., de Vries,N., Begovich,A.B., Worthington,J., Siminovitch,K.A., Gregersen,P.K., Klareskog,L. and Plenge,R.M. CONSRTM BIRAC Consortium; YEAR Consortium TITLE Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci JOURNAL Nat. Genet. 42 (6), 508-514 (2010) PUBMED 20453842 REFERENCE 5 (bases 1 to 2928) AUTHORS Ryu,E.J., Wang,J.Y., Le,N., Baloh,R.H., Gustin,J.A., Schmidt,R.E. and Milbrandt,J. TITLE Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss JOURNAL J. Neurosci. 27 (43), 11552-11559 (2007) PUBMED 17959798 REMARK GeneRIF: Strict control of Pou3f1 transgene expression is critical to proper myelination, and factors responsible for Pouf31 downregulation during myelination may play important roles in the development of peripheral neuropathies. REFERENCE 6 (bases 1 to 2928) AUTHORS Leger,H., Sock,E., Renner,K., Grummt,F. and Wegner,M. TITLE Functional interaction between the POU domain protein Tst-1/Oct-6 and the high-mobility-group protein HMG-I/Y JOURNAL Mol. Cell. Biol. 15 (7), 3738-3747 (1995) PUBMED 7791781 REFERENCE 7 (bases 1 to 2928) AUTHORS Zwilling,S., Konig,H. and Wirth,T. TITLE High mobility group protein 2 functionally interacts with the POU domains of octamer transcription factors JOURNAL EMBO J. 14 (6), 1198-1208 (1995) PUBMED 7720710 REFERENCE 8 (bases 1 to 2928) AUTHORS Faus,I., Hsu,H.J. and Fuchs,E. TITLE Oct-6: a regulator of keratinocyte gene expression in stratified squamous epithelia JOURNAL Mol. Cell. Biol. 14 (5), 3263-3275 (1994) PUBMED 7909356 REFERENCE 9 (bases 1 to 2928) AUTHORS Suzuki,N., Rohdewohld,H., Neuman,T., Gruss,P. and Scholer,H.R. TITLE Oct-6: a POU transcription factor expressed in embryonal stem cells and in the developing brain JOURNAL EMBO J. 9 (11), 3723-3732 (1990) PUBMED 1976514 REFERENCE 10 (bases 1 to 2928) AUTHORS Monuki,E.S., Kuhn,R., Weinmaster,G., Trapp,B.D. and Lemke,G. TITLE Expression and activity of the POU transcription factor SCIP JOURNAL Science 249 (4974), 1300-1303 (1990) PUBMED 1975954 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL139158.11. On Jul 22, 2006 this sequence version replaced gi:27545318. 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. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-2928 AL139158.11 18283-21210 c FEATURES Location/Qualifiers source 1..2928 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p34.1" gene 1..2928 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /note="POU class 3 homeobox 1" /db_xref="GeneID:5453" /db_xref="HGNC:9214" /db_xref="MIM:602479" exon 1..2928 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /inference="alignment:Splign:1.39.8" CDS 36..1391 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /note="octamer-binding transcription factor 6; OTF-6; octamer-binding protein 6; POU domain transcription factor SCIP" /codon_start=1 /product="POU domain, class 3, transcription factor 1" /protein_id="NP_002690.3" /db_xref="GI:110624765" /db_xref="CCDS:CCDS30679.1" /db_xref="GeneID:5453" /db_xref="HGNC:9214" /db_xref="MIM:602479" /translation="
MATTAQYLPRGPGGGAGGTGPLMHPDAAAAAAAAAAAERLHAGAAYREVQKLMHHEWLGAGAGHPVGLAHPQWLPTGGGGGGDWAGGPHLEHGKAGGGGTGRADDGGGGGGFHARLVHQGAAHAGAAWAQGSTAHHLGPAMSPSPGASGGHQPQPLGLYAQAAYPGGGGGGLAGMLAAGGGGAGPGLHHALHEDGHEAQLEPSPPPHLGAHGHAHGHAHAGGLHAAAAHLHPGAGGGGSSVGEHSDEDAPSSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQLSFKNMCKLKPLLNKWLEETDSSSGSPTNLDKIAAQGRKRKKRTSIEVGVKGALESHFLKCPKPSAHEITGLADSLQLEKEVVRVWFCNRRQKEKRMTPAAGAGHPPMDDVYAPGELGPGGGGASPPSAPPPPPPAALHHHHHHTLPGSVQ
" misc_feature 774..998 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /note="Found in Pit-Oct-Unc transcription factors; Region: POU; smart00352" /db_xref="CDD:197673" misc_feature 1053..1226 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /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(1053..1067,1071..1073,1122..1124,1140..1142, 1179..1181,1185..1190,1197..1202,1206..1214,1218..1223) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(1059..1061,1068..1070,1188..1190,1197..1202, 1209..1211) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" STS 805..1204 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /standard_name="Pou3f1" /db_xref="UniSTS:530696" STS 947..1037 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /standard_name="Pou3f1" /db_xref="UniSTS:496743" variation complement(989) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:148233013" variation complement(1012..1013) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="g" /db_xref="dbSNP:137999311" variation complement(1038) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:141969937" variation complement(1091) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:370444231" variation complement(1144) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:369867206" variation complement(1145) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:376666397" variation complement(1157) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:147015857" variation complement(1220) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:145557249" variation complement(1297) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:373192805" variation complement(1299) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:377734965" variation complement(1307) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="t" /db_xref="dbSNP:201037684" variation complement(1489..1490) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="a" /db_xref="dbSNP:35099707" variation complement(1503..1504) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="a" /db_xref="dbSNP:373298489" STS 1784..1938 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /standard_name="POU3F1" /db_xref="UniSTS:479772" variation complement(1804) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:374679177" variation complement(1879) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:149981726" variation complement(1917..1918) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="t" /db_xref="dbSNP:113103101" variation complement(1999) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:368510380" STS 2020..2147 /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /standard_name="D1S3677" /db_xref="UniSTS:473976" variation complement(2129) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:186256033" variation complement(2132) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:371912492" variation complement(2156) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="c" /db_xref="dbSNP:7412444" variation complement(2163) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="a" /db_xref="dbSNP:71991934" variation complement(2164) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:201731676" variation complement(2166..2169) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="aaaa" /db_xref="dbSNP:75613156" variation complement(2167) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="c" /db_xref="dbSNP:77586752" variation complement(2171) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:28650302" variation complement(2172) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="c" /db_xref="dbSNP:28702711" variation complement(2183) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="a" /db_xref="dbSNP:5773610" variation complement(2183) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="c" /db_xref="dbSNP:62676861" variation complement(2184) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="c" /db_xref="dbSNP:138024979" variation complement(2233) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="g" /db_xref="dbSNP:370424030" variation complement(2297) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:34860389" variation complement(2334) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="c" /db_xref="dbSNP:35823623" variation complement(2491) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:369744531" variation complement(2567) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="g" /replace="t" /db_xref="dbSNP:28418984" variation complement(2653) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="t" /db_xref="dbSNP:55870461" variation complement(2674) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="c" /db_xref="dbSNP:55784678" variation complement(2775) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="c" /replace="g" /db_xref="dbSNP:41268251" variation complement(2841) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="g" /db_xref="dbSNP:374636908" variation complement(2873) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="a" /replace="t" /db_xref="dbSNP:376798290" variation complement(2875) /gene="POU3F1" /gene_synonym="OCT6; OTF6; SCIP" /replace="" /replace="a" /db_xref="dbSNP:200879858" ORIGIN
cggcggcggcggcgcggcgcagggcgcggggcggcatggccaccaccgcgcagtacctgccgcggggccccggtggcggagccgggggcaccgggccgcttatgcacccggacgccgcggcggcggcggcggcggcggcggccgcggagcgattgcatgcaggggccgcgtaccgcgaagtgcagaagctgatgcaccacgagtggctgggcgcgggcgcgggccaccccgtgggcctagcgcacccccagtggctacccacgggaggaggcggcggcggcgattgggccggcggcccgcacctagaacacggcaaggcaggcggcggcggcaccggccgagccgacgacggcggcggcggcggaggtttccacgcgcgcctggtgcaccagggggcggcccacgcgggcgcggcatgggcgcagggcagcacagcgcaccacttgggcccggccatgtcgccctcgcccggggccagcgggggccaccagccccagccgctcgggctgtacgcgcaggcggcctacccggggggcggcggcggcggcctggccgggatgctggcggcgggcggtggcggcgcggggccgggcctgcaccacgcgctgcacgaggatggccacgaggcgcagctggagccgtcgccgccgccgcatctgggcgcccacggacacgcacacggacatgcacacgcgggcggcctgcacgcggcggcggcgcacctgcacccgggcgcgggcggcggcggctcatcggtgggcgagcactcggacgaggatgcgcccagctcggacgacctggagcagttcgccaagcagttcaagcagcggcgcatcaagctgggctttacgcaggccgacgtggggctggcgctgggcacgctctacggtaacgtgttctcgcagaccaccatctgccgcttcgaggccctgcagctgagcttcaagaacatgtgcaagctcaagccgctgctcaacaagtggctggaggagaccgactcgtccagcggcagccccaccaacctggacaagatcgcggcgcagggccgcaagcgcaagaagcgcacgtccatcgaggtgggggtcaaaggcgcgctcgagagccactttctcaagtgccccaagccctcggcgcacgagatcaccggcttggcagacagcctgcagctggagaaggaggtggtgcgcgtctggttctgcaaccggcggcagaaggagaagcgcatgacccctgcggccggcgcgggccacccgcccatggacgatgtatacgcgcctggggagctagggcctggcgggggcggcgcatcgccaccctccgcgcccccaccgcccccgccggcggcgctgcaccaccaccaccaccacacactgcccggctcagtgcagtgaccccgcgggccgggcccccgccggcgcgctgcagggcgcgggcgcgcagcccgcccgcgcggcctggactctttttgttcggttgctttggattttacaaaaaaaaaaaaaagcccagaaactttcgaacaaaaccaaacacccggacgaccctctccggtgagcggcgaagacagcccggtaggctgcgtcgcccgagccccgggagagaggagcgaagatccggaactcgccaactcaccccgggcatcctgcccgccgcctgctctctgcccccatcccctcgacgacccccgcccctgcccccccgggctgttcggggccggatcccggcagcggcctccccaaagcgacaggtaacgcagtgcggggttagggattccccgggagagaggacgaagcgaggagagttctccatcccctctccccgcgtggactcctgagcctgcgggtccagggtggggggctgtcactttattcgctacacgcctcttctctcctataaggatgcgccccaccccgctttcccctttctccgggcttggttttttacggtttttatttattcgtggagcctctcggctcctggggtccttctaactccgcccgcgcccttaatttaaatcgcagtatactgtatttatcggggccccggaggggaggtcgcgagagccgcgtctgtgtataaaagcaggaaatagccaaagctttaatctagcctaatttatttttccccttatatttccctaccctaccctccccccaaaaaaaagcaaaaaaaaaaaaaaaaaactaacaaaaaaaattcgagtgttcatttttcgtttcgtttcatccgagccccggcttggttcccggccacgccggaggggtctgcgctcccacacacccagacgggaaggggcttctgccctgctgcagaccgaccgccgcatagcgcggcccctgctccccgcggggccctgccctcctggccacaccaaacgaaacttggaaaagttagagagattgttttttaaccagctgtagaaataagccgttccctgagaaccctccgcctgattccctgcagcttccctctgctccctttccagcccgccgggatgcgggatgccaggggaggccgggagagaaattccccaagtttggggtgaggtgggaaccatgtaaatatgtgagatatgtacacactggcggggagaagaaacattttgtgcttggtttttatttttggttttccgggttacccttccttcctaccctaaaggattttgtacactgactaatccgaaaaagatattttaatatgatttccgaatttctgacccatctctatttattttctggatgtgtttggagcttcccccttctccgtttcttcttctgtttgttaaggtttgaatttaaattttgttattttatttttattattttttgaaacaatgtttcggtgcattctctttgtatctttattgaaaaaaaaataatgtagactgggaagttccctttatatttatgttatagtaaatattttatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:5453 -> Molecular function: GO:0001105 [RNA polymerase II transcription coactivator activity] evidence: IEA GeneID:5453 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:5453 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA GeneID:5453 -> Biological process: GO:0008366 [axon ensheathment] evidence: TAS GeneID:5453 -> Biological process: GO:0010628 [positive regulation of gene expression] evidence: ISS GeneID:5453 -> Biological process: GO:0022011 [myelination in peripheral nervous system] evidence: IEA GeneID:5453 -> Biological process: GO:0030216 [keratinocyte differentiation] evidence: IEA GeneID:5453 -> Biological process: GO:0030900 [forebrain development] evidence: IEA GeneID:5453 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: ISS GeneID:5453 -> Cellular component: GO:0005634 [nucleus] evidence: ISS GeneID:5453 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.