2024-04-24 05:58:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002144 1014 bp mRNA linear PRI 18-APR-2013 DEFINITION Homo sapiens homeobox B1 (HOXB1), mRNA. ACCESSION NM_002144 VERSION NM_002144.3 GI:84043951 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 1014) AUTHORS Webb,B.D., Shaaban,S., Gaspar,H., Cunha,L.F., Schubert,C.R., Hao,K., Robson,C.D., Chan,W.M., Andrews,C., MacKinnon,S., Oystreck,D.T., Hunter,D.G., Iacovelli,A.J., Ye,X., Camminady,A., Engle,E.C. and Jabs,E.W. TITLE HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice JOURNAL Am. J. Hum. Genet. 91 (1), 171-179 (2012) PUBMED 22770981 REMARK GeneRIF: The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates extensively with the previously reported Hoxb1(-/-) mouse phenotype. REFERENCE 2 (bases 1 to 1014) AUTHORS Gouti,M., Briscoe,J. and Gavalas,A. TITLE Anterior Hox genes interact with components of the neural crest specification network to induce neural crest fates JOURNAL Stem Cells 29 (5), 858-870 (2011) PUBMED 21433221 REMARK GeneRIF: Hoxb1 Expression Induces Cell Fate Changes in the Trunk Neural Tube. REFERENCE 3 (bases 1 to 1014) AUTHORS Song,R.R., Zou,L., Zhong,R., Zheng,X.W., Zhu,B.B., Chen,W., Liu,L. and Miao,X.P. TITLE An integrated meta-analysis of two variants in HOXA1/HOXB1 and their effect on the risk of autism spectrum disorders JOURNAL PLoS ONE 6 (9), E25603 (2011) PUBMED 21980499 REMARK GeneRIF: HOXA1 A218G and HOXB1 nINS/INS variants may not contribute significantly to autism spectrum disorders risk REFERENCE 4 (bases 1 to 1014) AUTHORS Lian,P., Liu,L.A., Shi,Y., Bu,Y. and Wei,D. TITLE Tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations JOURNAL Biophys. J. 98 (7), 1285-1293 (2010) PUBMED 20371328 REMARK GeneRIF: analysis of a tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations REFERENCE 5 (bases 1 to 1014) AUTHORS Muscarella,L.A., Guarnieri,V., Sacco,R., Curatolo,P., Manzi,B., Alessandrelli,R., Giana,G., Militerni,R., Bravaccio,C., Lenti,C., Saccani,M., Schneider,C., Melmed,R., D'Agruma,L. and Persico,A.M. TITLE Candidate gene study of HOXB1 in autism spectrum disorder JOURNAL Mol Autism 1 (1), 9 (2010) PUBMED 20678259 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) Publication Status: Online-Only REFERENCE 6 (bases 1 to 1014) 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 1014) 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 1014) 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 9 (bases 1 to 1014) 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 REFERENCE 10 (bases 1 to 1014) 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 X16666.1 and AC103702.3. This sequence is a reference standard in the RefSeqGene project. On Dec 29, 2005 this sequence version replaced gi:24497525. Summary: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [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 :: X16666.1, CN264618.1 [ECO:0000332] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-798 X16666.1 1-798 799-1014 AC103702.3 159839-160054 FEATURES Location/Qualifiers source 1..1014 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21.3" gene 1..1014 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /note="homeobox B1" /db_xref="GeneID:3211" /db_xref="HGNC:5111" /db_xref="MIM:142968" STS 1..962 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /db_xref="UniSTS:481565" exon 1..583 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /inference="alignment:Splign:1.39.8" misc_feature 1..3 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /note="upstream in-frame stop codon" CDS 7..912 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /note="homeobox protein Hox-2I" /codon_start=1 /product="homeobox protein Hox-B1" /protein_id="NP_002135.2" /db_xref="GI:24497526" /db_xref="CCDS:CCDS32675.1" /db_xref="GeneID:3211" /db_xref="HGNC:5111" /db_xref="MIM:142968" /translation="
MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYASEGRYGGGLSSPAFQQNSGYPAQQPPSTLGVPFPSSAPSGYAPAACSPSYGPSQYYPLGQSEGDGGYFHPSSYGAQLGGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLLSEDKETPCPSEPNTPTARTFDWMKVKRNPPKTAKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRARRVEIAATLELNETQVKIWFQNRRMKQKKREREEGRVPPAPPGCPKEAAGDASDQSTCTSPEASPSSVTS
" misc_feature 541..558 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P14653.2); Region: Antp-type hexapeptide" misc_feature 625..765 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /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(625..630,634..636,685..687,703..705,742..744, 748..753,760..765) /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(631..633,751..753,760..765) /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 160 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /replace="c" /replace="t" /db_xref="dbSNP:35114525" variation 218 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /replace="a" /replace="c" /db_xref="dbSNP:35254561" STS 537..862 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /standard_name="Hoxb1" /db_xref="UniSTS:234048" exon 584..1014 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /inference="alignment:Splign:1.39.8" variation 708 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /replace="a" /replace="g" /db_xref="dbSNP:35115415" STS 735..914 /gene="HOXB1" /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I" /standard_name="RH71278" /db_xref="UniSTS:69321" ORIGIN
tgacgcatggactataataggatgaactccttcttagagtacccactctgtaaccggggacccagcgcctacagcgcccacagcgccccaacctcctttcccccaagctcggctcaggcggttgacagctatgcaagcgagggccgctacggtggggggctgtccagccctgcgtttcagcagaactccggctatcccgcccagcagccgccttcgaccctgggggtgcccttccccagctccgcgccctcggggtatgctcctgccgcctgcagccccagctacgggccttctcagtactaccctctgggtcaatcagaaggagacggaggctattttcatccctcgagctacggggcccagctagggggcttgtccgatggctacggagcaggtggagccggtccggggccatatcctccgcagcatcccccttatgggaacgagcagaccgcgagctttgcaccggcctatgctgatctcctctccgaggacaaggaaacaccctgcccttcagaacctaacacccccacggcccggaccttcgactggatgaaggttaagagaaacccacccaagacagcgaaggtgtcagagccaggcctgggctcgcccagtggcctccgcaccaacttcaccacaaggcagctgacagaactggaaaaggagttccatttcaacaagtacctgagccgggcccggagggtggagattgccgccaccctggagctcaatgaaacacaggtcaagatttggttccagaaccgacgaatgaagcagaagaagcgcgagcgagaggaaggtcgggtccccccagccccaccaggctgccccaaggaggcagctggagatgcctcagaccagtcgacatgcacctccccggaagcctcacccagctctgtcacctcctgaactgaacctagccaccaatggggcttccaggcactggagcgccccagtccagccctatcccaggctctccccaaccccaggcctgggcttcactggcctggg
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:3211 -> Molecular function: GO:0003677 [DNA binding] evidence: IDA GeneID:3211 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS GeneID:3211 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IPI GeneID:3211 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:3211 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:3211 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS GeneID:3211 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: TAS GeneID:3211 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS GeneID:3211 -> Biological process: GO:0007389 [pattern specification process] evidence: TAS GeneID:3211 -> Biological process: GO:0009952 [anterior/posterior pattern specification] evidence: IEA GeneID:3211 -> Biological process: GO:0021570 [rhombomere 4 development] evidence: IEA GeneID:3211 -> Biological process: GO:0021571 [rhombomere 5 development] evidence: IEA GeneID:3211 -> Biological process: GO:0021612 [facial nerve structural organization] evidence: IEA GeneID:3211 -> Biological process: GO:0021754 [facial nucleus development] evidence: IEA GeneID:3211 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:3211 -> Biological process: GO:0048646 [anatomical structure formation involved in morphogenesis] evidence: IEA GeneID:3211 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA GeneID:3211 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:3211 -> Cellular component: GO:0005634 [nucleus] evidence: NAS GeneID:3211 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:3211 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
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