2025-05-09 19:16:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024014 802 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens homeobox A6 (HOXA6), mRNA. ACCESSION NM_024014 VERSION NM_024014.3 GI:334724446 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 802) 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 2 (bases 1 to 802) AUTHORS Dickson,G.J., Kwasniewska,A., Mills,K.I., Lappin,T.R. and Thompson,A. TITLE Hoxa6 potentiates short-term hemopoietic cell proliferation and extended self-renewal JOURNAL Exp. Hematol. 37 (3), 322-333 (2009) PUBMED 19157684 REMARK GeneRIF: Enforced overexpression of HOXA6 or HOXA9 in FDCP-Mix resulted in increased proliferation and colony formation but had negligible effect on differentiation in early multipotential and later committed precursor cells REFERENCE 3 (bases 1 to 802) AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z., Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S., McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J., Dunham,I., Hill,D.E. and Vidal,M. TITLE hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes JOURNAL Genomics 89 (3), 307-315 (2007) PUBMED 17207965 REFERENCE 4 (bases 1 to 802) AUTHORS Kosaki,K., Kosaki,R., Suzuki,T., Yoshihashi,H., Takahashi,T., Sasaki,K., Tomita,M., McGinnis,W. and Matsuo,N. TITLE Complete mutation analysis panel of the 39 human HOX genes JOURNAL Teratology 65 (2), 50-62 (2002) PUBMED 11857506 REFERENCE 5 (bases 1 to 802) AUTHORS Walters,J.R., Howard,A., Rumble,H.E., Prathalingam,S.R., Shaw-Smith,C.J. and Legon,S. TITLE Differences in expression of homeobox transcription factors in proximal and distal human small intestine JOURNAL Gastroenterology 113 (2), 472-477 (1997) PUBMED 9247466 REFERENCE 6 (bases 1 to 802) AUTHORS Apiou,F., Flagiello,D., Cillo,C., Malfoy,B., Poupon,M.F. and Dutrillaux,B. TITLE Fine mapping of human HOX gene clusters JOURNAL Cytogenet. Cell Genet. 73 (1-2), 114-115 (1996) PUBMED 8646877 REFERENCE 7 (bases 1 to 802) AUTHORS Scott,M.P. TITLE Vertebrate homeobox gene nomenclature JOURNAL Cell 71 (4), 551-553 (1992) PUBMED 1358459 REFERENCE 8 (bases 1 to 802) AUTHORS McAlpine,P.J. and Shows,T.B. TITLE Nomenclature for human homeobox genes JOURNAL Genomics 7 (3), 460 (1990) PUBMED 1973146 REFERENCE 9 (bases 1 to 802) 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 BC104915.1. On Jun 3, 2011 this sequence version replaced gi:24797131. Summary: In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC104915.1, BC069497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-802 BC104915.1 1-802 FEATURES Location/Qualifiers source 1..802 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15.2" gene 1..802 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /note="homeobox A6" /db_xref="GeneID:3203" /db_xref="HGNC:5107" /db_xref="HPRD:00839" /db_xref="MIM:142951" STS 1..802 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /db_xref="UniSTS:485837" exon 1..467 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /inference="alignment:Splign:1.39.8" STS 26..777 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /db_xref="UniSTS:480721" CDS 26..727 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /note="homeo box A6; homeo box 1B; homeobox protein HOXA6; homeobox protein Hox-1B" /codon_start=1 /product="homeobox protein Hox-A6" /protein_id="NP_076919.1" /db_xref="GI:13489077" /db_xref="CCDS:CCDS5407.1" /db_xref="GeneID:3203" /db_xref="HGNC:5107" /db_xref="HPRD:00839" /db_xref="MIM:142951" /translation="
MSSYFVNPTFPGSLPSGQDSFLGQLPLYQAGYDALRPFPASYGASSLPDKTYTSPCFYQQSNSVLACNRASYEYGASCFYSDKDLSGASPSGSGKQRGPGDYLHFSPEQQYKPDSSSGQGKALHDEGADRKYTSPVYPWMQRMNSCAGAVYGSHGRRGRQTYTRYQTLELEKEFHFNRYLTRRRRIEIANALCLTERQIKIWFQNRRMKWKKENKLINSTQPSGEDSEAKAGE
" misc_feature 431..448 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P31267.2); Region: Antp-type hexapeptide" misc_feature <530..667 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /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(560..562,578..580,617..619,623..628,635..640, 644..652,656..661) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(626..628,635..640,647..649) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation complement(27) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:372988125" STS 33..100 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /standard_name="Hoxa6" /db_xref="UniSTS:536644" variation complement(50) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="t" /db_xref="dbSNP:375214907" variation complement(55) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="c" /db_xref="dbSNP:370785785" variation complement(56) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:371909980" variation complement(73) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="c" /db_xref="dbSNP:370341498" variation complement(94) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="g" /db_xref="dbSNP:149022222" STS 105..349 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /standard_name="REN100540" /db_xref="UniSTS:425337" variation complement(126) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="g" /db_xref="dbSNP:376057404" variation complement(128) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="c" /db_xref="dbSNP:186744061" variation complement(151) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="c" /db_xref="dbSNP:373980441" variation complement(231) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:368790713" variation complement(274) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:144914171" variation complement(293) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:145294674" variation complement(307) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:369375493" variation complement(365) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="g" /replace="t" /db_xref="dbSNP:62454418" variation complement(412) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="g" /db_xref="dbSNP:200483396" variation complement(426) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="g" /replace="t" /db_xref="dbSNP:139795399" variation complement(427) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:147820248" variation complement(439) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:144375853" variation complement(450) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:139581191" variation complement(451) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:17472042" exon 468..802 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /inference="alignment:Splign:1.39.8" variation complement(484) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:17500863" variation complement(515) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:376435844" STS 517..772 /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /standard_name="REN100532" /db_xref="UniSTS:425329" variation complement(531) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="c" /db_xref="dbSNP:202074180" variation complement(584) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:373414972" variation complement(593) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="t" /db_xref="dbSNP:141474913" variation complement(614) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="c" /db_xref="dbSNP:369149965" variation complement(637) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:74417774" variation complement(644) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:188748627" variation complement(675) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:375876584" variation complement(681) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="c" /replace="t" /db_xref="dbSNP:370024061" variation complement(719) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:377212926" variation complement(724) /gene="HOXA6" /gene_synonym="HOX1; HOX1.2; HOX1B" /replace="a" /replace="g" /db_xref="dbSNP:62454417" ORIGIN
cacagtcctgcagaggggcgcgcaaatgagttcctattttgtgaatcccactttccccgggagccttcccagcggccaggactccttcttgggccagctgcccctctaccaggctggctatgacgcgctgaggcccttcccggcctcgtacggggcgtcgagtctcccggacaagacgtacacctcaccttgtttctaccaacagtccaactcggtcctggcctgcaaccgggcgtcctacgagtacggggcctcgtgtttctattctgataaggacctcagtggcgcctcgccctcgggcagtggcaagcagaggggccccggggactacctgcacttttctcccgagcagcagtacaaacccgacagcagcagcgggcagggcaaagcactccatgacgaaggcgccgaccggaagtacacgagcccggtttacccttggatgcagcggatgaactcctgcgcgggtgctgtgtatgggagccatgggcgccgaggccgccagacctacacgcgctaccagacactggagctggagaaggagttccacttcaaccgctacctgacacggcgccgccgcatcgagatcgccaacgcgctctgcctcaccgagcgccagatcaagatctggttccagaaccgccgcatgaagtggaaaaaggaaaacaagctcatcaattccacgcagcccagcggggaggactcagaggcaaaggcgggcgagtagatgcctgggcagggaccaggccagcgctgcaacctccttcggctttgcccccttgccctcgcctgttccccaact
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3203 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:3203 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:3203 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:3203 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:3203 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA GeneID:3203 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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