2025-05-09 19:43:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005523 2653 bp mRNA linear PRI 08-JUN-2013 DEFINITION Homo sapiens homeobox A11 (HOXA11), mRNA. ACCESSION NM_005523 VERSION NM_005523.5 GI:84105266 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 2653) AUTHORS Li,Z., Huang,H., Li,Y., Jiang,X., Chen,P., Arnovitz,S., Radmacher,M.D., Maharry,K., Elkahloun,A., Yang,X., He,C., He,M., Zhang,Z., Dohner,K., Neilly,M.B., Price,C., Lussier,Y.A., Zhang,Y., Larson,R.A., Le Beau,M.M., Caligiuri,M.A., Bullinger,L., Valk,P.J., Delwel,R., Lowenberg,B., Liu,P.P., Marcucci,G., Bloomfield,C.D., Rowley,J.D. and Chen,J. TITLE Up-regulation of a HOXA-PBX3 homeobox-gene signature following down-regulation of miR-181 is associated with adverse prognosis in patients with cytogenetically abnormal AML JOURNAL Blood 119 (10), 2314-2324 (2012) PUBMED 22251480 REMARK GeneRIF: Data show that up-regulation of the HOXA7, HOXA9, HOXA11, and PBX3 resulting from the down-regulation of miR-181 family members probably contribute to the poor prognosis of patients with nonfavorable cytogenetically abnormal AML (CA-AML). REFERENCE 2 (bases 1 to 2653) AUTHORS Szczepanska,M., Wirstlein,P., Skrzypczak,J. and Jagodzinski,P.P. TITLE Expression of HOXA11 in the mid-luteal endometrium from women with endometriosis-associated infertility JOURNAL Reprod. Biol. Endocrinol. 10, 1 (2012) PUBMED 22233680 REMARK GeneRIF: reduced HOXA11 expression may contribute to endometriosis-associated infertility Publication Status: Online-Only REFERENCE 3 (bases 1 to 2653) AUTHORS Alizadeh,Z., Shokrzadeh,N., Saidijam,M. and Sanoee,M.F. TITLE Semi-quantitative analysis of HOXA11, leukemia inhibitory factor and basic transcriptional element binding protein 1 mRNA expression in the mid-secretory endometrium of patients with endometriosis JOURNAL Iran. Biomed. J. 15 (3), 66-72 (2011) PUBMED 21987111 REMARK GeneRIF: Endometrial HOXA11 and LIF mRNA expression levels (normalized to beta-actin expression) were significantly decreased in endometrium of infertile patients with endometriosis compared with healthy fertile controls REFERENCE 4 (bases 1 to 2653) AUTHORS Szczepanska,M., Wirstlein,P., Luczak,M., Jagodzinski,P. and Skrzypczak,J. TITLE Expression of HOXA-10 and HOXA-11 in the endometria of women with idiopathic infertility JOURNAL Folia Histochem. Cytobiol. 49 (1), 111-118 (2011) PUBMED 21526497 REMARK GeneRIF: The result suggest that HOXA-11 gene expression in the endometrium during the implantation window may not be altered in patients with idiopathic infertility. REFERENCE 5 (bases 1 to 2653) AUTHORS Szczepanska,M., Wirstlein,P. and Skrzypczak,J. TITLE [HOXA11 gene expression in women with and without impaired infertility] JOURNAL Ginekol. Pol. 81 (6), 414-421 (2010) PUBMED 20695189 REMARK GeneRIF: Our results suggest that altered HOXA11 gene expression in the endometrium during a menstrual cycle may be a common phenomenon among patients with endometriosis and may cause infertility in this group of patients REFERENCE 6 (bases 1 to 2653) 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 2653) 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 8 (bases 1 to 2653) AUTHORS Scott,M.P. TITLE Vertebrate homeobox gene nomenclature JOURNAL Cell 71 (4), 551-553 (1992) PUBMED 1358459 REFERENCE 9 (bases 1 to 2653) 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 2653) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC040948.1 and AC004080.2. This sequence is a reference standard in the RefSeqGene project. On Dec 30, 2005 this sequence version replaced gi:24497552. 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. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [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 :: BC040948.1, AL551705.3 [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 1-781 BC040948.1 1-781 782-2653 AC004080.2 54527-56398 c FEATURES Location/Qualifiers source 1..2653 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15.2" gene 1..2653 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /note="homeobox A11" /db_xref="GeneID:3207" /db_xref="HGNC:5101" /db_xref="HPRD:00846" /db_xref="MIM:142958" exon 1..781 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /inference="alignment:Splign:1.39.8" misc_feature 34..36 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /note="upstream in-frame stop codon" STS 64..323 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100706" /db_xref="UniSTS:425503" CDS 73..1014 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /note="homeo box 1I; homeobox protein HOXA11; homeobox protein Hox-1I" /codon_start=1 /product="homeobox protein Hox-A11" /protein_id="NP_005514.1" /db_xref="GI:5031759" /db_xref="CCDS:CCDS5411.1" /db_xref="GeneID:3207" /db_xref="HGNC:5101" /db_xref="HPRD:00846" /db_xref="MIM:142958" /translation="
MDFDERGPCSSNMYLPSCTYYVSGPDFSSLPSFLPQTPSSRPMTYSYSSNLPQVQPVREVTFREYAIEPATKWHPRGNLAHCYSAEELVHRDCLQAPSAAGVPGDVLAKSSANVYHHPTPAVSSNFYSTVGRNGVLPQAFDQFFETAYGTPENLASSDYPGDKSAEKGPPAATATSAAAAAAATGAPATSSSDSGGGGGCRETAAAAEEKERRRRPESSSSPESSSGHTEDKAGGSSGQRTRKKRCPYTKYQIRELEREFFFSVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKINRDRLQYYSANPLL
" misc_feature 145..573 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /note="Protein of unknown function (DUF3528); Region: DUF3528; pfam12045" /db_xref="CDD:152480" misc_feature 796..966 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /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(796..810,814..816,865..867,883..885,922..924, 928..933,940..945,949..957,961..966) /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(802..804,811..813,931..933,940..945,952..954) /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" STS 147..220 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="Hoxa11" /db_xref="UniSTS:536638" STS 303..563 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100705" /db_xref="UniSTS:425502" STS 529..762 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100704" /db_xref="UniSTS:425501" exon 782..2653 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /inference="alignment:Splign:1.39.8" STS 805..2022 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="stSG609385" /db_xref="UniSTS:449470" STS 854..1105 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100696" /db_xref="UniSTS:425493" STS 1090..1318 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100695" /db_xref="UniSTS:425492" STS 1299..1543 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100694" /db_xref="UniSTS:425491" variation 1307 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /replace="c" /replace="t" /db_xref="dbSNP:3210747" STS 1450..2059 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="ECD10174" /db_xref="UniSTS:291214" STS 1521..1763 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100693" /db_xref="UniSTS:425490" STS 1745..1995 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100692" /db_xref="UniSTS:425489" STS 1976..2214 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100691" /db_xref="UniSTS:425488" STS 2147..2276 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="SHGC-33814" /db_xref="UniSTS:76593" STS 2178..2435 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /standard_name="REN100690" /db_xref="UniSTS:425487" polyA_signal 2276..2281 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" polyA_site 2295 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /experiment="experimental evidence, no additional details recorded" polyA_site 2300 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" /experiment="experimental evidence, no additional details recorded" polyA_signal 2632..2637 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" polyA_site 2653 /gene="HOXA11" /gene_synonym="HOX1; HOX1I" ORIGIN
cttcaaagaggcagctgcagtggagaatcatgttaagctcggctactgcggagagcccaaggtagcccaataatggattttgatgagcgtggtccctgctcctctaacatgtatttgccaagttgtacttactacgtctcgggtccagatttctccagcctcccttcttttctgccccagaccccgtcttcgcgcccaatgacatactcctactcctccaacctgccccaggtccaacccgtgcgcgaagtgaccttcagagagtacgccattgagcccgccactaaatggcacccccgcggcaatctggcccactgctactccgcggaggagctcgtgcacagagactgcctgcaggcgcccagcgcggccggcgtgcctggcgacgtgctggccaagagctcggccaacgtctaccaccaccccacccccgcagtctcgtccaatttctatagcaccgtgggcaggaacggcgtcctgccacaggctttcgaccagtttttcgagacagcctacggcaccccggaaaacctcgcctcctccgactaccccggggacaagagcgccgagaaggggcccccggcggccacggcgacctccgcggcggcggcggcggctgcaacgggcgcgccggcaacttcaagttcggacagcggcggcggcggcggctgccgggagacggcggcggcagcagaggagaaagagcggcggcggcgccccgagagcagcagcagccccgagtcgtcttccggccacactgaggacaaggccggcggctccagtggccaacgcacccgcaaaaagcgctgcccctataccaagtaccagatccgagagctggaacgggagttcttcttcagcgtctacattaacaaagagaagcgcctgcaactgtcccgcatgctcaacctcactgatcgtcaagtcaaaatctggtttcagaacaggagaatgaaggaaaaaaaaattaacagagaccgtttacagtactactcagcaaatccactcctctaagactccagcggctggaattgggtggggggcttcatacacatgagataatatgcagattttgcccttgacaaagtcaagccacatggtgacttttgaaaagaggtgtgcaagagagggatgcatggagatagccccacaggaggtggtctgggactctcttgattaagatctcagtggttaagattcctaataatcattggattctgagagctgtgcatcagctagaatgacaggtttgggacccctggtggttcactcttggagcctgcagagctgcgggctgggtgtggtctccactggggattgggcccctgccagaccccctggagactaaccccaccacaccctccctctactgggagcctacccacccccaggacccctgagtaaaaaagctgtgtgctctccaagcccagttcagcttggggacaggggcaggaggaaggggtaggattactaggtgcccagaatgaggctgctttccaaagccaatgtgaacagcggctggacttggaggtagctttgaggtggaagagggctgcaaatccttgtgggaaaagaaatctatgattccaggtggcatcagtgtctttccactcctcctagccacccaccacactgatccagccctgagttcctagccaccgcctcctacagcccacctggcttttctttctaccaaatgagggtcttggttccagcctgccactcaggcccaaagcctcgacacagagtggactgttccctgaggtgggagatgtggaaaagccaagaggctgcagccaggccactggcccctgagatctctgcaggaaatggctgtggagtgtggcagtttggcaaactctccaccacacgtaatgaaacttggatttgctcagtgtctggctgcagagcagtgggcctggccagcaggtccccagctttggctatgagggccttgagtcccccaaaacaccgggttccagcaccacactcagccctcattggctcttgaactgagcttggaagcttctggtgaccttccaagagcctgagagtgaggtggaattattttaaaagataaatattatattatatatatatatatttccctgaaggaaccaaagcgaattttaaaagatgcaatgtagaggggaaaagagatgatgaaaatatttaaaggccctatctgtttacagtgttccgtggttaaactcgctcactgctaagaatatttgaatgtatgcttcatacagggatggtgttcaaaaaacttgtaaataaaggaaccataatcaattttcttttctttctttctctttttcttttttcttttgccattagttgatttcctttagggtgttggagggggtggaaaaggtattgagaatggtctttttaatctcttgcaacatttggaaagagttagggaaatgctcagaggcagtcggcctggccggcctggggatctcatctgggaaagccaggcaccctcccattgaatctcctttgcctccctgtgttaagaaatgtctgttggctccatttgtactgggagtgttggcctgtcctcaattctggttcttacccaccgtgtgtgttgcagcacttatacaggcaactgggcacaaggaaaataaagacggtggaaatttga
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3207 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:3207 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:3207 -> Biological process: GO:0001501 [skeletal system development] evidence: ISS GeneID:3207 -> Biological process: GO:0001656 [metanephros development] evidence: IEA GeneID:3207 -> Biological process: GO:0001658 [branching involved in ureteric bud morphogenesis] evidence: ISS GeneID:3207 -> Biological process: GO:0001759 [organ induction] evidence: IEA GeneID:3207 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:3207 -> Biological process: GO:0007275 [multicellular organismal development] evidence: ISS GeneID:3207 -> Biological process: GO:0007501 [mesodermal cell fate specification] evidence: ISS GeneID:3207 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS GeneID:3207 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:3207 -> Biological process: GO:0009953 [dorsal/ventral pattern formation] evidence: ISS GeneID:3207 -> Biological process: GO:0009954 [proximal/distal pattern formation] evidence: IEA GeneID:3207 -> Biological process: GO:0010720 [positive regulation of cell development] evidence: ISS GeneID:3207 -> Biological process: GO:0030326 [embryonic limb morphogenesis] evidence: ISS GeneID:3207 -> Biological process: GO:0032332 [positive regulation of chondrocyte differentiation] evidence: ISS GeneID:3207 -> Biological process: GO:0035115 [embryonic forelimb morphogenesis] evidence: IEA GeneID:3207 -> Biological process: GO:0042733 [embryonic digit morphogenesis] evidence: IEA GeneID:3207 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: ISS GeneID:3207 -> Biological process: GO:0048589 [developmental growth] evidence: ISS GeneID:3207 -> Biological process: GO:0060272 [embryonic skeletal joint morphogenesis] evidence: IEA GeneID:3207 -> Biological process: GO:0060351 [cartilage development involved in endochondral bone morphogenesis] evidence: ISS GeneID:3207 -> Cellular component: GO:0005667 [transcription factor complex] evidence: ISS GeneID:3207 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:3207 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:3207 -> Cellular component: GO:0032993 [protein-DNA complex] evidence: ISS GeneID:3207 -> Cellular component: GO:0043234 [protein complex] evidence: ISS
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