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2025-05-09 19:31:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002141 1728 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens homeobox A4 (HOXA4), mRNA. ACCESSION NM_002141 VERSION NM_002141.4 GI:148613881 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 1728) AUTHORS Gray,S., Pandha,H.S., Michael,A., Middleton,G. and Morgan,R. TITLE HOX genes in pancreatic development and cancer JOURNAL JOP 12 (3), 216-219 (2011) PUBMED 21546695 REMARK GeneRIF: Studies suggest that HOXA4, HOXA5 and HOXB4 provide the spatial information needed to restrict the response to signals from the notochord, and not up regulated in pancreatic cancer. Publication Status: Online-Only REFERENCE 2 (bases 1 to 1728) AUTHORS Lillvis,J.H., Erdman,R., Schworer,C.M., Golden,A., Derr,K., Gatalica,Z., Cox,L.A., Shen,J., Vander Heide,R.S., Lenk,G.M., Hlavaty,L., Li,L., Elmore,J.R., Franklin,D.P., Gray,J.L., Garvin,R.P., Carey,D.J., Lancaster,W.D., Tromp,G. and Kuivaniemi,H. TITLE Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms JOURNAL BMC Physiol. 11, 9 (2011) PUBMED 21627813 REMARK GeneRIF: HOXA4 showed nuclear & perinuclear staining in endothelial & smooth muscle cells in aorta. Spatial variation in expression in human aortas persisted into adulthood. Downregulation of HOXA4 expression was associated with abdominal aortic aneurysm. Publication Status: Online-Only REFERENCE 3 (bases 1 to 1728) 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 4 (bases 1 to 1728) AUTHORS Zangenberg,M., Grubach,L., Aggerholm,A., Silkjaer,T., Juhl-Christensen,C., Nyvold,C.G., Kjeldsen,E., Ommen,H.B. and Hokland,P. TITLE The combined expression of HOXA4 and MEIS1 is an independent prognostic factor in patients with AML JOURNAL Eur. J. Haematol. 83 (5), 439-448 (2009) PUBMED 19563517 REMARK GeneRIF: combination of low HOXA4 and low MEIS1 gene expression is a favourable predictor for outcome in all AML patients and that the expression levels are governed by the methylation state of these genes. REFERENCE 5 (bases 1 to 1728) AUTHORS Klausen,C., Leung,P.C. and Auersperg,N. TITLE Cell motility and spreading are suppressed by HOXA4 in ovarian cancer cells: possible involvement of beta1 integrin JOURNAL Mol. Cancer Res. 7 (9), 1425-1437 (2009) PUBMED 19723874 REMARK GeneRIF: Results confirm that HOXA4 inhibits cell motility, show that it suppresses cell spreading and filopodia formation while enhancing cell-cell adhesion, and suggest a role for beta1 integrin in mediating these changes. REFERENCE 6 (bases 1 to 1728) AUTHORS Scott,M.P. TITLE Vertebrate homeobox gene nomenclature JOURNAL Cell 71 (4), 551-553 (1992) PUBMED 1358459 REFERENCE 7 (bases 1 to 1728) AUTHORS Buettner,R., Yim,S.O., Hong,Y.S., Boncinelli,E. and Tainsky,M.A. TITLE Alteration of homeobox gene expression by N-ras transformation of PA-1 human teratocarcinoma cells JOURNAL Mol. Cell. Biol. 11 (7), 3573-3583 (1991) PUBMED 1675427 REFERENCE 8 (bases 1 to 1728) AUTHORS Peverali,F.A., D'Esposito,M., Acampora,D., Bunone,G., Negri,M., Faiella,A., Stornaiuolo,A., Pannese,M., Migliaccio,E., Simeone,A. et al. TITLE Expression of HOX homeogenes in human neuroblastoma cell culture lines JOURNAL Differentiation 45 (1), 61-69 (1990) PUBMED 1981366 REFERENCE 9 (bases 1 to 1728) 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 1728) AUTHORS Ferguson-Smith,A.C., Fienberg,A. and Ruddle,F.H. TITLE Isolation, chromosomal localization, and nucleotide sequence of the human HOX 1.4 homeobox JOURNAL Genomics 5 (2), 250-258 (1989) PUBMED 2571574 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AW445008.1, AC004080.2 and M74297.1. On Jun 6, 2007 this sequence version replaced gi:84043949. 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. 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 :: M74297.1, M74297.1, BI521357.1 [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 1-254 AW445008.1 133-386 c 255-255 AC004080.2 3896-3896 c 256-386 AW445008.1 1-131 c 387-465 M74297.1 340-418 466-466 AC004080.2 3685-3685 c 467-760 M74297.1 420-713 761-1728 AC004080.2 1877-2844 c FEATURES Location/Qualifiers source 1..1728 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15.2" gene 1..1728 /gene="HOXA4" /gene_synonym="HOX1; HOX1D" /note="homeobox A4" /db_xref="GeneID:3201" /db_xref="HGNC:5105" /db_xref="MIM:142953" STS 1..1602 /gene="HOXA4" /gene_synonym="HOX1; HOX1D" /db_xref="UniSTS:484641" exon 1..663 /gene="HOXA4" /gene_synonym="HOX1; HOX1D" /inference="alignment:Splign:1.39.8" STS 31..269 /gene="HOXA4" /gene_synonym="HOX1; HOX1D" /standard_name="REN100463" /db_xref="UniSTS:425260" CDS 48..1010 /gene="HOXA4" /gene_synonym="HOX1; HOX1D" /note="homeo box A4; Hox-1.4-like protein; Dfd-like protein; homeobox protein Hox-1D; homeobox protein Hox-1.4" /codon_start=1 /product="homeobox protein Hox-A4" /protein_id="NP_002132.3" /db_xref="GI:148613882" /db_xref="CCDS:CCDS5405.1" /db_xref="GeneID:3201" /db_xref="HGNC:5105" /db_xref="MIM:142953" /translation="
MTMSSFLINSNYIEPKFPPFEEYAQHSGSGGADGGPGGGPGYQQPPAPPTQHLPLQQPQLPHAGGGREPTASYYAPRTAREPAYPAAALYPAHGAADTAYPYGYRGGASPGRPPQPEQPPAQAKGPAHGLHASHVLQPQLPPPLQPRAVPPAAPRRCEAAPATPGVPAGGSAPACPLLLADKSPLGLKGKEPVVYPWMKKIHVSAVNPSYNGGEPKRSRTAYTRQQVLELEKEFHFNRYLTRRRRIEIAHTLCLSERQVKIWFQNRRMKWKKDHKLPNTKMRSSNSASASAGPPGKAQTQSPHLHPHPHPSTSTPVPSSI
"
misc_feature 627..644
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q00056.3);
Region: Antp-type hexapeptide"
misc_feature 693..869
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/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(693..707,711..713,762..764,780..782,819..821,
825..830,837..842,846..854,858..863)
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(699..701,708..710,828..830,837..842,849..851)
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
STS 95..355
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="REN100462"
/db_xref="UniSTS:425259"
variation 119
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/replace="a"
/replace="g"
/db_xref="dbSNP:1050271"
variation 164
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050272"
variation 232
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/replace="a"
/replace="c"
/db_xref="dbSNP:77150951"
STS 609..956
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="Hoxa4"
/db_xref="UniSTS:547734"
exon 664..1728
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/inference="alignment:Splign:1.39.8"
STS 722..900
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="HOXA4"
/db_xref="UniSTS:278530"
STS 794..1051
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="REN100457"
/db_xref="UniSTS:425254"
variation 848
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/replace="a"
/replace="g"
/db_xref="dbSNP:1063494"
STS 1023..1218
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="G10625"
/db_xref="UniSTS:39624"
STS 1027..1430
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="D7S2834"
/db_xref="UniSTS:8898"
STS 1028..1288
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="REN100456"
/db_xref="UniSTS:425253"
STS 1058..1632
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="ECD11377"
/db_xref="UniSTS:292413"
variation 1264
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/replace="c"
/replace="t"
/db_xref="dbSNP:1801085"
STS 1286..1537
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/standard_name="REN100455"
/db_xref="UniSTS:425252"
variation 1599
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
/replace="g"
/replace="t"
/db_xref="dbSNP:14447"
polyA_signal 1689..1694
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
polyA_signal 1710..1715
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
polyA_site 1728
/gene="HOXA4"
/gene_synonym="HOX1; HOX1D"
ORIGIN
aaaacgacaacgcgagaaaaattagtatttttgcacttcacaaattaatgaccatgagctcgtttttgataaactccaactacatcgagcccaagttccctcccttcgaggagtacgcgcagcacagcggctcgggcggcgcagacggcggcccgggcgggggccccggctaccagcagcccccagcgcccccgacccagcacctgccgctgcagcagccccagctccctcacgcgggcggcggccgagagcccactgcctcctactacgcgccgcggaccgcccgcgagcccgcctaccctgctgccgcgctgtaccccgcgcatggggccgcggacaccgcctacccctatggctaccgcggcggcgccagccccgggcggccgccccagcccgagcagcccccggcgcaagccaagggcccagcgcacggcctgcatgcgagccacgtcctgcagccccagctgccgccgcccctgcagcctcgcgccgtgcccccagcggccccgcggcgctgcgaggcggcccccgccaccccaggcgtcccggcagggggcagcgcccccgcgtgcccgctgctcttggccgacaagagcccgctgggcctgaagggcaaggagcccgtggtgtacccctggatgaagaagatccatgtcagcgccgttaaccccagttataacggaggggagcctaagcgctctcgaaccgcctacacccggcagcaggtcttggagctggagaaggagttccacttcaatcgatacctgacccggcggcgccgcatcgagatcgcccacacgctctgtttgtctgagcgccaggtcaagatctggtttcagaaccggaggatgaagtggaagaaagaccacaaactgcccaacaccaagatgcgatcctccaattcggcctcggcctctgccggcccaccagggaaagcacaaactcagagcccacacctccatccccacccccacccgagcacctccacacccgttccctcctccatataatcttctagagatcttaaccagtttctatcccttacctgcttttctcttctcttctcctgctccgttcctcatccacccctccccatctggaccataatagacaccaaaacaaacccaaattggtgaaaagaataatcaaaaagaagacattatccggttaagagtctgtgctggttgccacccaagagagaacagttgtccaggatgctggctggtggaacaacctgctggcccgaaacaaggctgccaggtgtggatacctgagaaggactacttggtatcaaatacttttgagatggctacagtcagctagctggacagcccatgctgagtggggacatacacttgcatctttgttgaaagcagaagaagacagaccctttccccaccttccttacctcctcttcccccattaaggcagctcatccaagcttgtatttaactgaataaatgagtagacattgtggacctcacaagattatttaattcttaagatgtgtagaccttgatggtaggtgtgacatgttagtttttcttacttgcatttatttaagacactgttacagagatactgttgtccccttctggggcacggtctttggggagaggggagtgcatttagacttatgtggaactgtacaaattgtgatgtggctacatagaaagccatgtgctaagaataaactccatttaaaaaacattaaaaatctaagattca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3201 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:3201 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:3201 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:3201 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:3201 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA
GeneID:3201 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA
GeneID:3201 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
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@meso_cacase at
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