2025-05-09 20:01:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024501 1991 bp mRNA linear PRI 20-APR-2013 DEFINITION Homo sapiens homeobox D1 (HOXD1), mRNA. ACCESSION NM_024501 VERSION NM_024501.2 GI:399154168 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 1991) 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 1991) AUTHORS Park,H., Choi,H.J., Kim,J., Kim,M., Rho,S.S., Hwang,D., Kim,Y.M. and Kwon,Y.G. TITLE Homeobox D1 regulates angiogenic functions of endothelial cells via integrin beta1 expression JOURNAL Biochem. Biophys. Res. Commun. 408 (1), 186-192 (2011) PUBMED 21501586 REMARK GeneRIF: HOXD1 plays a significant role in endothelial cells functions by regulating the expression of ITGB1. REFERENCE 3 (bases 1 to 1991) AUTHORS Goode,E.L., Chenevix-Trench,G., Song,H., Ramus,S.J., Notaridou,M., Lawrenson,K., Widschwendter,M., Vierkant,R.A., Larson,M.C., Kjaer,S.K., Birrer,M.J., Berchuck,A., Schildkraut,J., Tomlinson,I., Kiemeney,L.A., Cook,L.S., Gronwald,J., Garcia-Closas,M., Gore,M.E., Campbell,I., Whittemore,A.S., Sutphen,R., Phelan,C., Anton-Culver,H., Pearce,C.L., Lambrechts,D., Rossing,M.A., Chang-Claude,J., Moysich,K.B., Goodman,M.T., Dork,T., Nevanlinna,H., Ness,R.B., Rafnar,T., Hogdall,C., Hogdall,E., Fridley,B.L., Cunningham,J.M., Sieh,W., McGuire,V., Godwin,A.K., Cramer,D.W., Hernandez,D., Levine,D., Lu,K., Iversen,E.S., Palmieri,R.T., Houlston,R., van Altena,A.M., Aben,K.K., Massuger,L.F., Brooks-Wilson,A., Kelemen,L.E., Le,N.D., Jakubowska,A., Lubinski,J., Medrek,K., Stafford,A., Easton,D.F., Tyrer,J., Bolton,K.L., Harrington,P., Eccles,D., Chen,A., Molina,A.N., Davila,B.N., Arango,H., Tsai,Y.Y., Chen,Z., Risch,H.A., McLaughlin,J., Narod,S.A., Ziogas,A., Brewster,W., Gentry-Maharaj,A., Menon,U., Wu,A.H., Stram,D.O., Pike,M.C., Beesley,J., Webb,P.M., Chen,X., Ekici,A.B., Thiel,F.C., Beckmann,M.W., Yang,H., Wentzensen,N., Lissowska,J., Fasching,P.A., Despierre,E., Amant,F., Vergote,I., Doherty,J., Hein,R., Wang-Gohrke,S., Lurie,G., Carney,M.E., Thompson,P.J., Runnebaum,I., Hillemanns,P., Durst,M., Antonenkova,N., Bogdanova,N., Leminen,A., Butzow,R., Heikkinen,T., Stefansson,K., Sulem,P., Besenbacher,S., Sellers,T.A., Gayther,S.A. and Pharoah,P.D. CONSRTM Wellcome Trust Case-Control Consortium; Australian Cancer Study (Ovarian Cancer); Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium (OCAC); Ovarian Cancer Association Consortium (OCAC) TITLE A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24 JOURNAL Nat. Genet. 42 (10), 874-879 (2010) PUBMED 20852632 REMARK GeneRIF: Single nucleotide polymorphism in HOXD1 is associated with ovarian cancer. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 1991) AUTHORS Ester,A.R., Weymouth,K.S., Burt,A., Wise,C.A., Scott,A., Gurnett,C.A., Dobbs,M.B., Blanton,S.H. and Hecht,J.T. TITLE Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot JOURNAL Am. J. Med. Genet. A 149A (12), 2745-2752 (2009) PUBMED 19938081 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 5 (bases 1 to 1991) AUTHORS Yerges,L.M., Klei,L., Cauley,J.A., Roeder,K., Kammerer,C.M., Moffett,S.P., Ensrud,K.E., Nestlerode,C.S., Marshall,L.M., Hoffman,A.R., Lewis,C., Lang,T.F., Barrett-Connor,E., Ferrell,R.E., Orwoll,E.S. and Zmuda,J.M. CONSRTM MrOS Research Group TITLE High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men JOURNAL J. Bone Miner. Res. 24 (12), 2039-2049 (2009) PUBMED 19453261 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 1991) AUTHORS Manohar,C.F., Salwen,H.R., Furtado,M.R. and Cohn,S.L. TITLE Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation JOURNAL Tumour Biol. 17 (1), 34-47 (1996) PUBMED 7501971 REFERENCE 7 (bases 1 to 1991) AUTHORS Guazzi,S., Lonigro,R., Pintonello,L., Boncinelli,E., Di Lauro,R. and Mavilio,F. TITLE The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins JOURNAL EMBO J. 13 (14), 3339-3347 (1994) PUBMED 7913891 REFERENCE 8 (bases 1 to 1991) AUTHORS Scott,M.P. TITLE Vertebrate homeobox gene nomenclature JOURNAL Cell 71 (4), 551-553 (1992) PUBMED 1358459 REFERENCE 9 (bases 1 to 1991) AUTHORS McAlpine,P.J. and Shows,T.B. TITLE Nomenclature for human homeobox genes JOURNAL Genomics 7 (3), 460 (1990) PUBMED 1973146 REFERENCE 10 (bases 1 to 1991) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF241528.1 and BC014477.1. On Aug 2, 2012 this sequence version replaced gi:13375631. Summary: This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [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 :: AF241528.1, AK314120.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-876 AF241528.1 1-876 877-1991 BC014477.1 781-1895 FEATURES Location/Qualifiers source 1..1991 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q31.1" gene 1..1991 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /note="homeobox D1" /db_xref="GeneID:3231" /db_xref="HGNC:5132" /db_xref="HPRD:00870" /db_xref="MIM:142987" exon 1..875 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /inference="alignment:Splign:1.39.8" variation 54 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:186339892" misc_feature 62..64 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /note="upstream in-frame stop codon" variation 120 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="c" /db_xref="dbSNP:150457564" CDS 224..1210 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /note="homeo box D1; homeo box 4G; homeobox protein Hox-GG" /codon_start=1 /product="homeobox protein Hox-D1" /protein_id="NP_078777.1" /db_xref="GI:13375632" /db_xref="CCDS:CCDS2271.1" /db_xref="GeneID:3231" /db_xref="HGNC:5132" /db_xref="HPRD:00870" /db_xref="MIM:142987" /translation="
MSSYLEYVSCSSSGGVGGDVLSLAPKFCRSDARPVALQPAFPLGNGDGAFVSCLPLAAARPSPSPPAAPARPSVPPPAAPQYAQCTLEGAYEPGAAPAAAAGGADYGFLGSGPAYDFPGVLGRAADDGGSHVHYATSAVFSGGGSFLLSGQVDYAAFGEPGPFPACLKASADGHPGAFQTASPAPGTYPKSVSPASGLPAAFSTFEWMKVKRNASKKGKLAEYGAASPSSAIRTNFSTKQLTELEKEFHFNKYLTRARRIEIANCLHLNDTQVKIWFQNRRMKQKKREREGLLATAIPVAPLQLPLSGTTPTKFIKNPGSPSQSQEPS
" misc_feature 833..850 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9GZZ0.1); Region: Antp-type hexapeptide" misc_feature 920..1087 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /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(920..925,929..931,980..982,998..1000,1037..1039, 1043..1048,1055..1060,1064..1072,1076..1081) /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(926..928,1046..1048,1055..1060,1067..1069) /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 263 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:144268439" variation 313 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:370320082" variation 316 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="c" /db_xref="dbSNP:372202598" variation 341 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:373779720" variation 349 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:368837616" variation 352 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:376811125" variation 553 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:369174324" variation 675 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:371113016" variation 713 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:17851168" variation 748 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:13390503" variation 752 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="g" /replace="t" /db_xref="dbSNP:372456292" variation 809 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:147120298" variation 814 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:375477049" variation 833 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:141997863" variation 875 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:150112597" exon 876..1975 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /inference="alignment:Splign:1.39.8" variation 883 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:200100987" variation 886 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:144526720" variation 887 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:202007469" variation 905 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:201124895" variation 907 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:142635639" variation 909 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:374032063" variation 937 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:112900146" variation 956 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:201651666" variation 975 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:144229443" variation 1022 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:370435803" variation 1025 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:181672079" variation 1029 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:149800367" variation 1032 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:145794550" variation 1075 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:368491456" variation 1109 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:6710142" variation 1130 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="g" /db_xref="dbSNP:200230800" variation 1227..1228 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="" /replace="g" /db_xref="dbSNP:199761075" variation 1237 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:371579717" variation 1346 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="g" /replace="t" /db_xref="dbSNP:186519463" variation 1433 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="g" /replace="t" /db_xref="dbSNP:6725515" variation 1499 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:190962453" variation 1639 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="c" /replace="t" /db_xref="dbSNP:182463194" variation 1708..1709 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="" /replace="t" /db_xref="dbSNP:113261496" variation 1717..1718 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="" /replace="t" /db_xref="dbSNP:71860310" variation 1718 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:11551009" STS 1751..1949 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /standard_name="RH68884" /db_xref="UniSTS:111" variation 1885 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="t" /db_xref="dbSNP:185309130" polyA_signal 1955..1960 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" variation 1955 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="t" /db_xref="dbSNP:62188735" variation 1969 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" /replace="a" /replace="g" /db_xref="dbSNP:144962247" polyA_site 1975 /gene="HOXD1" /gene_synonym="Hox-4.7; HOX4; HOX4G" ORIGIN
gccgagcggagaggccgcccattggccggccagcgccacgtggccgcccccgccggtatattaggccactatttacctccggctcactcgccatgggttggagagggcagctcgggtagagagggctggcggagcggcgcagacggcggcagtcctgctcagcctctgcccggctccgtactccggccccggcctgcgccctcagaaaggtggggcccgaaccatgagctcctacctggagtacgtgtcatgcagcagcagcggcggggtcggcggcgacgtgctcagcttggcacccaagttctgccgctccgacgcccggcccgtggctctgcagcccgccttccctctgggcaacggcgacggcgccttcgtcagctgtctgcccctggccgccgcccgaccctcgccttcgcccccggccgcccccgcgcggccgtccgtaccgcctccggccgcgccccagtacgcgcagtgcaccctggagggggcctacgaacctggtgccgcacctgccgcggcagctgggggcgcggactacggcttcctggggtccgggccggcgtacgacttcccgggcgtgctggggcgggcggccgacgacggcgggtctcacgtccactacgccacctcggccgtcttctcgggcggcggctctttcctcctcagcggccaggtggattacgcggccttcggcgaacccggcccttttccggcttgtctcaaagcgtcagccgacggccaccctggtgctttccagaccgcatccccggccccaggcacctaccccaagtccgtctctcccgcctccggcctccctgccgccttcagcacgttcgagtggatgaaagtgaagaggaatgcctctaagaaaggcaaactcgccgagtatggggccgctagcccctccagcgcgatccgcacgaatttcagcaccaagcaactgacagaactggaaaaagagtttcatttcaataagtacttaactcgagcccggcgcatcgagatagccaactgcttgcacctgaatgacacgcaagtcaaaatctggttccagaaccgcaggatgaaacagaagaaaagggaacgagaagggcttctggccacggccattcctgtggctcccctccaacttcccctctctggaacaacccccactaagtttatcaagaaccccggcagcccttctcagtcccaagagccttcgtgaggccggtacttggggccgaaaaactgtggcctgcagaagtcccaggcgacccccatccctatctagacttaggagctcagtttgggatggaggtgggagaacaaaaatgaatagggatttcacttgggaaatgaagtactttagttggcttccgagttccagactatatgtccagatattaattgactgtcttgtaagccacttgtttggttatgatttgtgtcttatcagggaaaaggtgcccagctgccagcccagctccgctgctatctttgcctcacttagtcatgtgcaattcgcgttgcagagtggcagaccattagttgctgagttctgtcagcactctgatgtgctcagaagagcacctgcccaaagtttttctggttttaatttaaaggacaaggctacatatattcagctttttgagatgaccaaagctagttagggtctccttgatgtagctaagctgcttcagtgatcttcacatttgcactccagtttttttttctttaaaaaagcggtttctacctctctatgtgcctgagtgatgatacaatcgctgtttagttactagatgaacaaatccacagaatgggtaaagagtagaatctgaactatatcttgacaaatattattcaaacttgaatgtaaatatatacagtatgtatattttttaaaaagatttgcttgcaatgaccttataagtgacatttaatgtcatagcatgtaaagggttttttttgtaataaaaattatagaatctgcaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3231 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:3231 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:3231 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:3231 -> Biological process: GO:0048706 [embryonic skeletal system development] evidence: IEA GeneID:3231 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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