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