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2024-04-19 09:54:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018952 1686 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens homeobox B6 (HOXB6), mRNA. ACCESSION NM_018952 VERSION NM_018952.4 GI:85543350 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 1686) AUTHORS di Pietro,M., Lao-Sirieix,P., Boyle,S., Cassidy,A., Castillo,D., Saadi,A., Eskeland,R. and Fitzgerald,R.C. TITLE Evidence for a functional role of epigenetically regulated midcluster HOXB genes in the development of Barrett esophagus JOURNAL Proc. Natl. Acad. Sci. U.S.A. 109 (23), 9077-9082 (2012) PUBMED 22603795 REMARK GeneRIF: HOXB5, HOXB6, and HOXB7 are activated in Barrett esophagus, and the midcluster HOXB gene signature in BE most resembled the colon rather than other GI epithelia. REFERENCE 2 (bases 1 to 1686) AUTHORS Ferrai,C., Naum-Ongania,G., Longobardi,E., Palazzolo,M., Disanza,A., Diaz,V.M., Crippa,M.P., Scita,G. and Blasi,F. TITLE Induction of HoxB transcription by retinoic acid requires actin polymerization JOURNAL Mol. Biol. Cell 20 (15), 3543-3551 (2009) PUBMED 19477923 REMARK GeneRIF: Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes. REFERENCE 3 (bases 1 to 1686) 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 1686) AUTHORS Chen,T., Li,Q., Xu,J., Ding,K., Wang,Y., Wang,W., Li,S. and Shen,Y. TITLE Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias JOURNAL Eur. J. Hum. Genet. 15 (1), 23-28 (2007) PUBMED 17003840 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 1686) AUTHORS Shen,W., Chrobak,D., Krishnan,K., Lawrence,H.J. and Largman,C. TITLE HOXB6 protein is bound to CREB-binding protein and represses globin expression in a DNA binding-dependent, PBX interaction-independent process JOURNAL J. Biol. Chem. 279 (38), 39895-39904 (2004) PUBMED 15269212 REMARK GeneRIF: the homeodomain contains most or all of the important structures required for HOXB6 activity in blood cells. REFERENCE 6 (bases 1 to 1686) AUTHORS Kaur,S., Singh,G., Stock,J.L., Schreiner,C.M., Kier,A.B., Yager,K.L., Mucenski,M.L., Scott,W.J. Jr. and Potter,S.S. TITLE Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities JOURNAL J. Exp. Zool. 264 (3), 323-336 (1992) PUBMED 1358998 REFERENCE 7 (bases 1 to 1686) AUTHORS Shen,W.F., Detmer,K., Simonitch-Eason,T.A., Lawrence,H.J. and Largman,C. TITLE Alternative splicing of the HOX 2.2 homeobox gene in human hematopoietic cells and murine embryonic and adult tissues JOURNAL Nucleic Acids Res. 19 (3), 539-545 (1991) PUBMED 1672751 REFERENCE 8 (bases 1 to 1686) 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 1686) AUTHORS Shen,W.F., Largman,C., Lowney,P., Corral,J.C., Detmer,K., Hauser,C.A., Simonitch,T.A., Hack,F.M. and Lawrence,H.J. TITLE Lineage-restricted expression of homeobox-containing genes in human hematopoietic cell lines JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (21), 8536-8540 (1989) PUBMED 2573064 REFERENCE 10 (bases 1 to 1686) AUTHORS Giampaolo,A., Acampora,D., Zappavigna,V., Pannese,M., D'Esposito,M., Care,A., Faiella,A., Stornaiuolo,A., Russo,G., Simeone,A. et al. TITLE Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system JOURNAL Differentiation 40 (3), 191-197 (1989) PUBMED 2570724 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC014651.1, AJ270993.1, AI352188.1 and AI283987.1. On Jan 20, 2006 this sequence version replaced gi:24797133. Summary: This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [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 :: BC014651.1, BG332853.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084, ERS025088 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1050 BC014651.1 1-1050 1051-1133 AJ270993.1 2768-2850 1134-1608 BC014651.1 1134-1608 1609-1660 BC014651.1 1612-1663 1661-1672 AI352188.1 185-196 1673-1686 AI283987.1 9-22 c FEATURES Location/Qualifiers source 1..1686 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21.3" gene 1..1686 /gene="HOXB6" /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2" /note="homeobox B6" /db_xref="GeneID:3216" /db_xref="HGNC:5117" /db_xref="HPRD:00849" /db_xref="MIM:142961" exon 1..111 /gene="HOXB6" /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2" /inference="alignment:Splign:1.39.8" exon 112..247 /gene="HOXB6" /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2" /inference="alignment:Splign:1.39.8" misc_feature 176..178 /gene="HOXB6" /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2" /note="upstream in-frame stop codon" exon 248..740 /gene="HOXB6" /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2" /inference="alignment:Splign:1.39.8" CDS 326..1000 /gene="HOXB6" /gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2" /note="homeo box B6; homeo box 2B; homeobox protein Hu-2; homeobox protein Hox-2B; homeobox protein Hox-2.2" /codon_start=1 /product="homeobox protein Hox-B6" /protein_id="NP_061825.2" /db_xref="GI:23503237" /db_xref="CCDS:CCDS11531.1" /db_xref="GeneID:3216" /db_xref="HGNC:5117" /db_xref="HPRD:00849" /db_xref="MIM:142961" /translation="
MSSYFVNSTFPVTLASGQESFLGQLPLYSSGYADPLRHYPAPYGPGPGQDKGFATSSYYPPAGGGYGRAAPCDYGPAPAFYREKESACALSGADEQPPFHPEPRKSDCAQDKSVFGETEEQKCSTPVYPWMQRMNSCNSSSFGPSGRRGRQTYTRYQTLELEKEFHYNRYLTRRRRIEIAHALCLTERQIKIWFQNRRMKWKKESKLLSASQLSAEEEEEKQAE
"
misc_feature 704..721
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P17509.4);
Region: Antp-type hexapeptide"
misc_feature <803..928
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/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(833..835,851..853,890..892,896..901,908..913,
917..925)
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(899..901,908..913,920..922)
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 956..958
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 965..967
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P17509.4); phosphorylation site"
misc_feature 965..967
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00278"
variation 598
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:34438598"
variation 604
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35227248"
exon 741..1676
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/inference="alignment:Splign:1.39.8"
STS 1364..1471
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/standard_name="Hoxb6"
/db_xref="UniSTS:516139"
STS 1367..1497
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/standard_name="Hoxb6"
/db_xref="UniSTS:143383"
STS 1548..1665
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
/standard_name="D17S2180"
/db_xref="UniSTS:49471"
polyA_signal 1642..1647
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
polyA_site 1676
/gene="HOXB6"
/gene_synonym="Hox-2.2; HOX2; HOX2B; HU-2"
ORIGIN
caccacacctaggtcggagcactgtcgtccttcagggctccagcctcttgatatttttgtacttcagtatcagctcgatagagcaaaagagagagaggacgagagagggggtcagagaaggggaagcaacggctctcacgttgggacaatattatctggaagctgaagaagaaactgaatactccttccttcctccccacccattcctttaaatccggagggggaaaaaatcccaaggtctgcaaaggcgcggcgctcggactataaaacacaacaaatcataaacccggcggagcagcagcggccgcgcgcgcctcccctcccaatgagttcctatttcgtgaactccaccttccccgtcactctggccagcgggcaggagtccttcctgggccagctaccgctctattcgtcgggctatgcggacccgctgagacattaccccgcgccctacgggccagggccgggccaggacaagggctttgccacttcctcctattacccgccggcgggcggtggctacggccgagcggcgccctgcgactacgggccggcgccggccttctaccgcgagaaagagtcggcctgcgcactctccggcgccgacgagcagcccccgttccaccccgagccgcggaagtcggactgcgcgcaggacaagagcgtgttcggcgagacagaagagcagaagtgctccactccggtctacccgtggatgcagcggatgaattcgtgcaacagttcctcctttgggcccagcggccggcgaggccgccagacatacacacgttaccagacgctggagctggagaaggagtttcactacaatcgctacctgacgcggcggcggcgcatcgagatcgcgcacgccctgtgcctgacggagaggcagatcaagatatggttccagaaccgacgcatgaagtggaaaaaggagagcaaactgctcagcgcgtctcagctcagtgccgaggaggaggaagaaaaacaggccgagtgaaggtgctggaaagggagggaggacgcgaggggaaaggcctgtggggagccgagggcgtcagagagacccgggaaggaaggctctcgggtgggggagccaggagacctgctctccggcgcagacaggcggggcccagcgctctcctggacgcccccgcccgcacagctcccggcgggtgctctgaggcctcactactcgagcccacccagcatcccgcgcgcccttccttcccgaggaactcgcctcagcctgatcaggcttcctggtgagaactgaggagcggactcacttgatgtttcctggaagcagagcaaaatgctcttgtccctgtcgcgtctcattttgtccatgtcccccgtgcacggttcaatggtagattcgctgtcccctcagcgggggccttgaagactccctgatcccagacctgtcgtctctcccaccccctccccaaagccactggaaggagcacatactacctagaagtaagaagaggagcctcagaagaaaacaaagttctattttattaattttctatgtgttgtgtttgtagtcttgtcttagctctggacgtgaaatacttcgatgatgatgatgatgatgatgatgataataataataataataacaacaacaacaacaataataaagatgtgaaaactcgacgctcggtcacctcaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:3216 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
GeneID:3216 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:3216 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:3216 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS
GeneID:3216 -> Biological process: GO:0008595 [anterior/posterior axis specification, embryo] evidence: NAS
GeneID:3216 -> Biological process: GO:0034101 [erythrocyte homeostasis] evidence: IEA
GeneID:3216 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA
GeneID:3216 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
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