2024-03-29 17:57:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006897 1640 bp mRNA linear PRI 05-MAY-2013 DEFINITION Homo sapiens homeobox C9 (HOXC9), mRNA. ACCESSION NM_006897 VERSION NM_006897.1 GI:24497546 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 1640) AUTHORS Sun,L., Cheng,L., Li,C., Gao,B., Wang,B., Wang,J., Wang,X., Huang,T., Li,H. and Ma,X. TITLE Homeobox C9 is not potentially related to congenital heart disease in Chinese patients JOURNAL Genet Test Mol Biomarkers 16 (5), 439-441 (2012) PUBMED 22106857 REMARK GeneRIF: We did not find any potential pathological mutations in the Hoxc9 gene among Chinese patients with congenital heart disease. REFERENCE 2 (bases 1 to 1640) AUTHORS Mao,L., Ding,J., Zha,Y., Yang,L., McCarthy,B.A., King,W., Cui,H. and Ding,H.F. TITLE HOXC9 links cell-cycle exit and neuronal differentiation and is a prognostic marker in neuroblastoma JOURNAL Cancer Res. 71 (12), 4314-4324 (2011) PUBMED 21507931 REMARK GeneRIF: HOXC9 links cell-cycle exit and neuronal differentiation and is a prognostic marker in neuroblastoma. REFERENCE 3 (bases 1 to 1640) AUTHORS Stoll,S.J., Bartsch,S., Augustin,H.G. and Kroll,J. TITLE The transcription factor HOXC9 regulates endothelial cell quiescence and vascular morphogenesis in zebrafish via inhibition of interleukin 8 JOURNAL Circ. Res. 108 (11), 1367-1377 (2011) PUBMED 21493894 REMARK GeneRIF: The data identify HOXC9 as an endothelial cell active transcriptional repressor promoting the resting, antiangiogenic endothelial cell phenotype in an interleukin 8-dependent manner REFERENCE 4 (bases 1 to 1640) AUTHORS Lin,Q., Geng,J., Ma,K., Yu,J., Sun,J., Shen,Z., Bao,G., Chen,Y., Zhang,H., He,Y., Luo,X., Feng,X. and Zhu,J. TITLE RASSF1A, APC, ESR1, ABCB1 and HOXC9, but not p16INK4A, DAPK1, PTEN and MT1G genes were frequently methylated in the stage I non-small cell lung cancer in China JOURNAL J. Cancer Res. Clin. Oncol. 135 (12), 1675-1684 (2009) PUBMED 19506903 REMARK GeneRIF: Methylated state of this set of genes may be more specific to the late rather than the early stage of NSCLC. Erratum:[J Cancer Res Clin Oncol. 2010 Jan;136(1):171] REFERENCE 5 (bases 1 to 1640) AUTHORS Olejnik-Schmidt,A.K., Schmidt,M.T., Kedzia,W. and Gozdzicka-Jozefiak,A. TITLE Search for cellular partners of human papillomavirus type 16 E2 protein JOURNAL Arch. Virol. 153 (5), 983-990 (2008) PUBMED 18305892 REFERENCE 6 (bases 1 to 1640) AUTHORS Miano,J.M., Firulli,A.B., Olson,E.N., Hara,P., Giachelli,C.M. and Schwartz,S.M. TITLE Restricted expression of homeobox genes distinguishes fetal from adult human smooth muscle cells JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (2), 900-905 (1996) PUBMED 8570656 REFERENCE 7 (bases 1 to 1640) AUTHORS Redline,R.W., Hudock,P., MacFee,M. and Patterson,P. TITLE Expression of AbdB-type homeobox genes in human tumors JOURNAL Lab. Invest. 71 (5), 663-670 (1994) PUBMED 7967520 REFERENCE 8 (bases 1 to 1640) AUTHORS Acampora,D., D'Esposito,M., Faiella,A., Pannese,M., Migliaccio,E., Morelli,F., Stornaiuolo,A., Nigro,V., Simeone,A. and Boncinelli,E. TITLE The human HOX gene family JOURNAL Nucleic Acids Res. 17 (24), 10385-10402 (1989) PUBMED 2574852 REFERENCE 9 (bases 1 to 1640) AUTHORS Boncinelli,E., Acampora,D., Pannese,M., D'Esposito,M., Somma,R., Gaudino,G., Stornaiuolo,A., Cafiero,M., Faiella,A. and Simeone,A. TITLE Organization of human class I homeobox genes JOURNAL Genome 31 (2), 745-756 (1989) PUBMED 2576652 REFERENCE 10 (bases 1 to 1640) AUTHORS Rabin,M., Ferguson-Smith,A., Hart,C.P. and Ruddle,F.H. TITLE Cognate homeo-box loci mapped on homologous human and mouse chromosomes JOURNAL Proc. Natl. Acad. Sci. U.S.A. 83 (23), 9104-9108 (1986) PUBMED 2878432 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY014301.1, BC032769.1, BC053894.1, AC012531.11 and AK000445.1. Summary: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]. 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 :: AK000445.1, BC021265.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-98 AY014301.1 1-98 99-1012 BC032769.1 12-925 1013-1391 BC053894.1 987-1365 1392-1401 AC012531.11 140791-140800 1402-1640 AK000445.1 1323-1561 FEATURES Location/Qualifiers source 1..1640 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q13.3" gene 1..1640 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /note="homeobox C9" /db_xref="GeneID:3225" /db_xref="HGNC:5130" /db_xref="HPRD:00857" /db_xref="MIM:142971" exon 1..634 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /inference="alignment:Splign:1.39.8" variation 61 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:373004521" variation 62 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="c" /db_xref="dbSNP:201653133" variation 66 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="t" /db_xref="dbSNP:368017100" variation 78 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:373971996" misc_feature 82..84 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /note="upstream in-frame stop codon" CDS 97..879 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /note="homeo box C9; homeobox protein Hox-3B" /codon_start=1 /product="homeobox protein Hox-C9" /protein_id="NP_008828.1" /db_xref="GI:24497547" /db_xref="CCDS:CCDS8869.1" /db_xref="GeneID:3225" /db_xref="HGNC:5130" /db_xref="HPRD:00857" /db_xref="MIM:142971" /translation="
MSATGPISNYYVDSLISHDNEDLLASRFPATGAHPAAARPSGLVPDCSDFPSCSFAPKPAVFSTSWAPVPSQSSVVYHPYGPQPHLGADTRYMRTWLEPLSGAVSFPSFPAGGRHYALKPDAYPGRRADCGPGEGRSYPDYMYGSPGELRDRAPQTLPSPEADALAGSKHKEEKADLDPSNPVANWIHARSTRKKRCPYTKYQTLELEKEFLFNMYLTRDRRYEVARVLNLTERQVKIWFQNRRMKMKKMNKEKTDKEQS
" misc_feature 97..633 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /note="Hox9 activation region; Region: Hox9_act; pfam04617" /db_xref="CDD:191048" misc_feature 673..819 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /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(673..687,691..693,742..744,760..762,799..801, 805..810,817..819) /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(679..681,688..690,808..810,817..819) /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 116 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="t" /db_xref="dbSNP:145111102" variation 148 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:370526047" variation 208 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:374992460" variation 219 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:138926361" variation 273 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:35784648" variation 305 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:199572863" variation 318 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:34136736" variation 323 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:138167268" variation 336 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="g" /db_xref="dbSNP:376785654" variation 339 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:149559141" variation 392 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="c" /db_xref="dbSNP:371710144" variation 398 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="g" /db_xref="dbSNP:200358721" variation 408 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:34079606" variation 461 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:11829948" variation 582 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:145061695" variation 591 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="g" /db_xref="dbSNP:7137528" STS 597..711 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /standard_name="MARC_44775-44776:1100041323:1" /db_xref="UniSTS:471623" variation 621 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:2241820" exon 635..1542 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /inference="alignment:Splign:1.39.8" variation 647 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="c" /db_xref="dbSNP:370925185" variation 683 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:374611200" variation 693 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:200142062" variation 696 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="g" /db_xref="dbSNP:202198578" variation 708 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:201717585" variation 740 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:201378386" variation 741 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:199706649" variation 760 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:144189376" variation 783 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:370297998" variation 789 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:200241065" STS 844..1139 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /standard_name="Hoxc9" /db_xref="UniSTS:468838" STS 868..1054 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /standard_name="RH68776" /db_xref="UniSTS:66349" variation 969 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:144848510" STS 995..1144 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /standard_name="SGC35159" /db_xref="UniSTS:34723" variation 1043 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="g" /replace="t" /db_xref="dbSNP:140162011" variation 1045 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="c" /db_xref="dbSNP:189249574" variation 1057 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:181553076" variation 1091 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="g" /replace="t" /db_xref="dbSNP:1047374" variation 1143 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:374995195" variation 1144 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:374038445" variation 1182 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:367720016" variation 1219 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:116659696" variation 1227..1228 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="" /replace="t" /db_xref="dbSNP:145733208" variation 1227 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:185824205" variation 1271 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:369710269" variation 1304 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="c" /db_xref="dbSNP:116741952" variation 1318..1319 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="" /replace="ac" /db_xref="dbSNP:139550932" variation 1318 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="" /replace="ca" /db_xref="dbSNP:72033532" variation 1323 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:374134582" variation 1392 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:1867297" variation 1396 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="g" /db_xref="dbSNP:147255161" variation 1411 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="c" /replace="t" /db_xref="dbSNP:376777337" variation 1412 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /replace="a" /replace="g" /db_xref="dbSNP:373812925" polyA_site 1542 /gene="HOXC9" /gene_synonym="HOX3; HOX3B" /experiment="experimental evidence, no additional details recorded" ORIGIN
tggaaaaataattacctgacttgattgttctgtgagcagataaaaagtacatatacagttcatacaataatcttatgtatgtaaaaccccgttacgatgtcggcgacggggcccatcagtaactattacgtggactcgctcatctctcacgacaatgaagacctcctagcgtccaggtttccggccaccggggctcatcccgccgccgccagacccagcggtttggtgccggactgtagcgattttccgtcctgtagcttcgcgcccaagccggcagtgttcagcacgtcgtgggcgcccgtgccctctcagtcgtccgtggtatatcacccgtacggcccccagccccacctcggcgccgacacgcgctacatgcggacttggctcgagccgctgtccggcgccgtctccttccccagcttcccggccgggggccgtcactacgccctcaagccggacgcctaccccgggcgccgcgcggactgcggcccaggggagggccgcagctacccggactacatgtacggctcgcccggggagctgcgcgaccgcgccccgcagacactgccctcgcccgaggcggacgcgctcgccggcagcaagcacaaagaggagaaggccgacctggaccccagcaaccccgtggccaactggattcacgcccgctccacgaggaagaagcgctgcccctacaccaagtaccagacgctggaactggagaaggagtttctcttcaatatgtatttaaccagggaccgtcggtatgaggtggcccgggttctcaatctcaccgagcggcaggtcaaaatctggtttcagaatcgaaggatgaagatgaaaaagatgaataaagagaaaaccgacaaggagcagtcctaaaccctacccagcctgctgcctcagcacagccaagggaaaaacaaaaaccccacaaaataccccaacacaggcgggggagagacgaaaaagaaaaggaaagagcaagatagacaaaagccaatcagcttaaaaagaaaaacaaggaaggggaaaagaaaactcttgcgatttgggagggttcagtgttgagatattggtgttttagagttagttctacccagcgaggaggaggcggggagagaaactgcgttctctttccccagcgcaaccgaaataaatgacacatacaaatgtgatttttttcctcctttcttcagagaagccagtacttgaatcgctatatttctatttttttttccctgtatcgtatttggtccaggtcatccctccccgggcctggggcgctctgcgtgcagattttgtacaaaaaaaaaaaagacacacacacatacatgataatgattcccagcccaggagctgaggggtgagggctggggaccatgccgcgggctaggtcgggcccgtgcaggccggcgccttgggctgtacatagtgttccctctcatccccagggttcgtccccagcgtccgtcctgtaacgtgcttctgtttgttatggtagaacagccctgtgttaatatattgaagtcacttaaccagaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3225 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:3225 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:3225 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:3225 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:3225 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA GeneID:3225 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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