2025-05-09 19:25:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004498 2118 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens one cut homeobox 1 (ONECUT1), transcript variant 1, mRNA. ACCESSION NM_004498 VERSION NM_004498.2 GI:428977302 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 2118) AUTHORS Prevot,P.P., Simion,A., Grimont,A., Colletti,M., Khalaileh,A., Van den Steen,G., Sempoux,C., Xu,X., Roelants,V., Hald,J., Bertrand,L., Heimberg,H., Konieczny,S.F., Dor,Y., Lemaigre,F.P. and Jacquemin,P. TITLE Role of the ductal transcription factors HNF6 and Sox9 in pancreatic acinar-to-ductal metaplasia JOURNAL Gut 61 (12), 1723-1732 (2012) PUBMED 22271799 REMARK GeneRIF: HNF6 and Sox9 are new biomarkers of pancreatic acinar-to-ductal metaplasia and constitute candidate targets for preventive treatment in cases when acinar-to-ductal metaplasia may lead to cancer. REFERENCE 2 (bases 1 to 2118) AUTHORS Laudadio,I., Manfroid,I., Achouri,Y., Schmidt,D., Wilson,M.D., Cordi,S., Thorrez,L., Knoops,L., Jacquemin,P., Schuit,F., Pierreux,C.E., Odom,D.T., Peers,B. and Lemaigre,F.P. TITLE A feedback loop between the liver-enriched transcription factor network and miR-122 controls hepatocyte differentiation JOURNAL Gastroenterology 142 (1), 119-129 (2012) PUBMED 21920465 REFERENCE 3 (bases 1 to 2118) AUTHORS Wang,K. and Holterman,A.X. TITLE Pathophysiologic role of hepatocyte nuclear factor 6 JOURNAL Cell. Signal. 24 (1), 9-16 (2012) PUBMED 21893194 REMARK GeneRIF: Hepatocyte nuclear factor 6 is one of the liver-enriched transcription factors, it utilizes the bipartite onecut-homeodomain sequence to localize to the nuclear compartment and bind specific DNA sequences of numerous target gene promoters Review article REFERENCE 4 (bases 1 to 2118) AUTHORS Lehner,F., Kulik,U., Klempnauer,J. and Borlak,J. TITLE Inhibition of the liver enriched protein FOXA2 recovers HNF6 activity in human colon carcinoma and liver hepatoma cells JOURNAL PLoS ONE 5 (10), E13344 (2010) PUBMED 20967225 REMARK GeneRIF: functional knockdown of FOXA2 recovered HNF6 activity and inhibited growth of tumor-cells and may possibly represent a novel therapeutic target in primary and secondary liver malignancies Publication Status: Online-Only REFERENCE 5 (bases 1 to 2118) AUTHORS Lee,Y.S., Kim,D.K., Kim,Y.D., Park,K.C., Shong,M., Seong,H.A., Ha,H.J. and Choi,H.S. TITLE Orphan nuclear receptor SHP interacts with and represses hepatocyte nuclear factor-6 (HNF-6) transactivation JOURNAL Biochem. J. 413 (3), 559-569 (2008) PUBMED 18459945 REMARK GeneRIF: Results suggest that HNF-6 is a novel target of small heterodimer partner in the regulation of gluconeogenesis. REFERENCE 6 (bases 1 to 2118) AUTHORS Streeper,R.S., Hornbuckle,L.A., Svitek,C.A., Goldman,J.K., Oeser,J.K. and O'Brien,R.M. TITLE Protein kinase A phosphorylates hepatocyte nuclear factor-6 and stimulates glucose-6-phosphatase catalytic subunit gene transcription JOURNAL J. Biol. Chem. 276 (22), 19111-19118 (2001) PUBMED 11279202 REFERENCE 7 (bases 1 to 2118) AUTHORS Pierreux,C.E., Stafford,J., Demonte,D., Scott,D.K., Vandenhaute,J., O'Brien,R.M., Granner,D.K., Rousseau,G.G. and Lemaigre,F.P. TITLE Antiglucocorticoid activity of hepatocyte nuclear factor-6 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (16), 8961-8966 (1999) PUBMED 10430878 REFERENCE 8 (bases 1 to 2118) AUTHORS Moller,A.M., Ek,J., Durviaux,S.M., Urhammer,S.A., Clausen,J.O., Eiberg,H., Hansen,T., Rousseau,G.G., Lemaigre,F.P. and Pedersen,O. TITLE Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion JOURNAL Diabetologia 42 (8), 1011-1016 (1999) PUBMED 10491763 REFERENCE 9 (bases 1 to 2118) AUTHORS Jacquemin,P., Lannoy,V.J., Rousseau,G.G. and Lemaigre,F.P. TITLE OC-2, a novel mammalian member of the ONECUT class of homeodomain transcription factors whose function in liver partially overlaps with that of hepatocyte nuclear factor-6 JOURNAL J. Biol. Chem. 274 (5), 2665-2671 (1999) PUBMED 9915796 REFERENCE 10 (bases 1 to 2118) AUTHORS Vaisse,C., Kim,J., Espinosa,R. III, Le Beau,M.M. and Stoffel,M. TITLE Pancreatic islet expression studies and polymorphic DNA markers in the genes encoding hepatocyte nuclear factor-3alpha, -3beta, -3gamma, -4gamma, and -6 JOURNAL Diabetes 46 (8), 1364-1367 (1997) PUBMED 9231664 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U96173.1 and AA699732.1. On Dec 8, 2012 this sequence version replaced gi:24307886. Summary: This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein. 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 :: U96173.1, BC140830.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1925 U96173.1 1-1925 1926-2118 AA699732.1 1-193 c FEATURES Location/Qualifiers source 1..2118 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q21.3" gene 1..2118 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /note="one cut homeobox 1" /db_xref="GeneID:3175" /db_xref="HGNC:8138" /db_xref="HPRD:05002" /db_xref="MIM:604164" exon 1..1233 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /inference="alignment:Splign:1.39.8" misc_feature 9..11 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /note="upstream in-frame stop codon" STS 48..1693 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /db_xref="UniSTS:480447" STS 95..1723 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /db_xref="UniSTS:483886" CDS 129..1526 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /note="hepatocyte nuclear factor 6, alpha; one cut domain family member 1" /codon_start=1 /product="hepatocyte nuclear factor 6" /protein_id="NP_004489.1" /db_xref="GI:24307887" /db_xref="CCDS:CCDS10150.1" /db_xref="GeneID:3175" /db_xref="HGNC:8138" /db_xref="HPRD:05002" /db_xref="MIM:604164" /translation="
MNAQLTMEAIGELHGVSHEPVPAPADLLGGSPHARSSVAHRGSHLPPAHPRSMGMASLLDGGSGGGDYHHHHRAPEHSLAGPLHPTMTMACETPPGMSMPTTYTTLTPLQPLPPISTVSDKFPHHHHHHHHHHHPHHHQRLAGNVSGSFTLMRDERGLASMNNLYTPYHKDVAGMGQSLSPLSSSGLGSIHNSQQGLPHYAHPGAAMPTDKMLTPNGFEAHHPAMLGRHGEQHLTPTSAGMVPINGLPPHHPHAHLNAQGHGQLLGTAREPNPSVTGAQVSNGSNSGQMEEINTKEVAQRITTELKRYSIPQAIFAQRVLCRSQGTLSDLLRNPKPWSKLKSGRETFRRMWKWLQEPEFQRMSALRLAACKRKEQEHGKDRGNTPKKPRLVFTDVQRRTLHAIFKENKRPSKELQITISQQLGLELSTVSNFFMNARRRSLDKWQDEGSSNSGNSSSSSSTCTKA
" misc_feature 978..1235 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /note="CUT domain; Region: CUT; pfam02376" /db_xref="CDD:202226" misc_feature 1284..1448 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /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(1284..1298,1302..1304,1353..1355,1371..1373, 1410..1412,1416..1421,1428..1433,1437..1445) /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(1290..1292,1299..1301,1419..1421,1428..1433, 1440..1442) /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" STS 822..1190 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /standard_name="PMC85812P3" /db_xref="UniSTS:273496" variation 959 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:35138937" variation 989 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /replace="g" /replace="t" /db_xref="dbSNP:2075613" exon 1234..2118 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /inference="alignment:Splign:1.39.8" STS 1240..1923 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /standard_name="ONECUT1__6113" /db_xref="UniSTS:464518" variation 1760 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /replace="c" /replace="t" /db_xref="dbSNP:1048965" variation 1761 /gene="ONECUT1" /gene_synonym="HNF-6; HNF6; HNF6A" /replace="c" /replace="t" /db_xref="dbSNP:1048966" ORIGIN
ccccacagtgagaggaaggaaggcaacagtcgccagcagccgatgtgaagaccggactccgtgcgcccctcgccgcctctgcctggccacatcgatgttgtgtccgccgcctgctcgcccggatcacgatgaacgcgcagctgaccatggaagcgatcggcgagctgcacggggtgagccatgagccggtgcccgcccctgccgacctgctgggcggcagcccccacgcgcgcagctccgtggcgcaccgcggcagccacctgccccccgcgcacccgcgctccatgggcatggcgtccctgctggacggcggcagcggcggcggagattaccaccaccaccaccgggcccctgagcacagcctggccggccccctgcatcccaccatgaccatggcctgcgagactcccccaggtatgagcatgcccaccacctacaccaccttgacccctctgcagccgctgcctcccatctccacagtctcggacaagttcccccaccatcaccaccaccaccatcaccaccaccacccgcaccaccaccagcgcctggcgggcaacgtgagcggtagcttcacgctcatgcgggatgagcgcgggctggcctccatgaataacctctataccccctaccacaaggacgtggccggcatgggccagagcctctcgcccctctccagctccggtctgggcagcatccacaactcccagcaagggctcccccactatgcccacccgggggccgccatgcccaccgacaagatgctcacccccaacggcttcgaagcccaccacccggccatgctcggccgccacggggagcagcacctcacgcccacctcggccggcatggtgcccatcaacggccttcctccgcaccatccccacgcccacctgaacgcccagggccacgggcaactcctgggcacagcccgggagcccaacccttcggtgaccggcgcgcaggtcagcaatggaagtaattcagggcagatggaagagatcaataccaaagaggtggcgcagcgtatcaccaccgagctcaagcgctacagcatcccacaggccatcttcgcgcagagggtgctctgccgctcccaggggaccctctcggacctgctgcgcaaccccaaaccctggagcaaactcaaatccggccgggagaccttccggaggatgtggaagtggctgcaggagccggagttccagcgcatgtccgcgctccgcttagcagcatgcaaaaggaaagaacaagaacatgggaaggatagaggcaacacacccaaaaagcccaggttggtcttcacagatgtccagcgtcgaactctacatgcaatattcaaggaaaataagcgtccatccaaagaattgcaaatcaccatttcccagcagctggggttggagctgagcactgtcagcaacttcttcatgaacgcaagaaggaggagtctggacaagtggcaggacgagggcagctccaattcaggcaactcatcttcttcatcaagcacttgtaccaaagcatgaaggaagaaccacaaactaaaacctcggtggaaaagctttaaattaaaaaaaatttttaaaagaccaggacctcaagatagcaggtttatacttagaaatatttgaagaaaaaaaagcgttatttatagtccaaagaaaccaaagacttagctcacctgcattctgactttgtttggagacacacacttcagcagggcggcgacttggcaagacaaatgatgagcaggaaaacaccactggatctcacaccttcaatccatgaccatcctcgctgtgcttggctgtttagtggtttggagcatagtgattttgagccattgagcggacatcttttaagatcgaactttctcatctgttctaccatgccacgaaggtgtatggtgtctcagtactaccaccaccagtggttacagacttaggcagagctggtcttcagaaatggttgttctataggagtgcaaccaacatggtatggggttgtctgagttcattggattaggagtgtgattttgctcgtctagcctaacgtttgaacctgccaggcccgcaacctaaatgcagattcaaacccagcaaagaaaatttgaatgac
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3175 -> 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: ISS GeneID:3175 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:3175 -> Biological process: GO:0001889 [liver development] evidence: IEA GeneID:3175 -> Biological process: GO:0001952 [regulation of cell-matrix adhesion] evidence: IEA GeneID:3175 -> Biological process: GO:0002064 [epithelial cell development] evidence: IEA GeneID:3175 -> Biological process: GO:0006006 [glucose metabolic process] evidence: IEA GeneID:3175 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS GeneID:3175 -> Biological process: GO:0007492 [endoderm development] evidence: IEA GeneID:3175 -> Biological process: GO:0030183 [B cell differentiation] evidence: IEA GeneID:3175 -> Biological process: GO:0030335 [positive regulation of cell migration] evidence: IEA GeneID:3175 -> Biological process: GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] evidence: IEA GeneID:3175 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: TAS GeneID:3175 -> Biological process: GO:0042384 [cilium assembly] evidence: IEA GeneID:3175 -> Biological process: GO:0045165 [cell fate commitment] evidence: IEA GeneID:3175 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: NAS GeneID:3175 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS GeneID:3175 -> Biological process: GO:0048536 [spleen development] evidence: IEA GeneID:3175 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
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