LOCUS       NM_002144               2034 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens homeobox B1 (HOXB1), mRNA.
ACCESSION   NM_002144
VERSION     NM_002144.4
KEYWORDS    RefSeq; MANE Select.
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 2034)
  AUTHORS   Xiong,J., Zhang,L., Tang,R. and Zhu,Z.
  TITLE     MicroRNA-301b-3p facilitates cell proliferation and migration in
            colorectal cancer by targeting HOXB1
  JOURNAL   Bioengineered 12 (1), 5839-5849 (2021)
   PUBMED   34488545
  REMARK    GeneRIF: MicroRNA-301b-3p facilitates cell proliferation and
            migration in colorectal cancer by targeting HOXB1.
REFERENCE   2  (bases 1 to 2034)
  AUTHORS   Cui,F., Zhou,Q., Xiao,K. and Ma,S.
  TITLE     The MicroRNA hsa-let-7g Promotes Proliferation and Inhibits
            Apoptosis in Lung Cancer by Targeting HOXB1
  JOURNAL   Yonsei Med J 61 (3), 210-217 (2020)
   PUBMED   32102121
  REMARK    GeneRIF: The results from this study demonstrate the potential of
            hsa-let-7g/HOXB1 axis as a therapeutic target for the treatment of
            lung cancer.
REFERENCE   3  (bases 1 to 2034)
  AUTHORS   Pinard,A., Eudes,N., Mitchell,J., Bajolle,F., Grelet,M.,
            Okoronkwo,J., Bonnet,D., Collod-Beroud,G. and Zaffran,S.
  TITLE     Analysis of HOXB1 gene in a cohort of patients with sporadic
            ventricular septal defect
  JOURNAL   Mol Biol Rep 45 (5), 1507-1513 (2018)
   PUBMED   29923154
  REMARK    GeneRIF: a homozygous c.74_82dup (p.Pro28delinsHisSerAlaPro)
            variant was identified in one individual with double outlet right
            ventricle (DORV). We also identified five previously reported
            polymorphisms (rs35114525, rs12946855, rs14534040, rs12939811, and
            rs7207109) in 18 patients (12 DORV and 6 perimembranous VSD). Our
            study did not show any pathogenic alterations in the coding region
            of HOXB1 among patients with VSD.
REFERENCE   4  (bases 1 to 2034)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 2034)
  AUTHORS   Sahin,Y., Gungor,O., Ayaz,A., Gungor,G., Sahin,B., Yaykasli,K. and
            Ceylaner,S.
  TITLE     A novel homozygous HOXB1 mutation in a Turkish family with
            hereditary congenital facial paresis
  JOURNAL   Brain Dev 39 (2), 166-170 (2017)
   PUBMED   27640920
  REMARK    GeneRIF: findings revealed a novel homozygous mutation p.Arg230Trp
            (c.688C>T) within the HOXB1 gene of three members of a Turkish
            family with hereditary congenital facial paresis (HCFP3)
REFERENCE   6  (bases 1 to 2034)
  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 2034)
  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 2034)
  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 2034)
  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 2034)
  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 AC103702.3 and X16666.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002144.3.
            
            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]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000239174.7/ ENSP00000355140.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-101               AC103702.3         158488-158588
            102-899             X16666.1           1-798
            900-1115            AC103702.3         159839-160054
            1116-2034           AC103702.3         160055-160973
FEATURES             Location/Qualifiers
     source          1..2034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..2034
                     /gene="HOXB1"
                     /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I"
                     /note="homeobox B1"
                     /db_xref="GeneID:3211"
                     /db_xref="HGNC:HGNC:5111"
                     /db_xref="MIM:142968"
     exon            1..684
                     /gene="HOXB1"
                     /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1013
                     /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="CCDS:CCDS32675.1"
                     /db_xref="GeneID:3211"
                     /db_xref="HGNC:HGNC:5111"
                     /db_xref="MIM:142968"
                     /translation="MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYAS
                     EGRYGGGLSSPAFQQNSGYPAQQPPSTLGVPFPSSAPSGYAPAACSPSYGPSQYYPLG
                     QSEGDGGYFHPSSYGAQLGGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLL
                     SEDKETPCPSEPNTPTARTFDWMKVKRNPPKTAKVSEPGLGSPSGLRTNFTTRQLTEL
                     EKEFHFNKYLSRARRVEIAATLELNETQVKIWFQNRRMKQKKREREEGRVPPAPPGCP
                     KEAAGDASDQSTCTSPEASPSSVTS"
     exon            685..2034
                     /gene="HOXB1"
                     /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXB1"
                     /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I"
                     /note="hexamer: AATAAA"
     polyA_site      2034
                     /gene="HOXB1"
                     /gene_synonym="HCFP3; Hox-2.9; HOX2; HOX2I"
                     /note="major polyA site"
ORIGIN      
        1 gggtcaggcc atggattcga gccccagcgc tgtgacatac tgccgaaagg ttgtagggca
       61 agagggtgtc tcccccaaac gggccgaccc tcctgcggcc ttgacgcatg gactataata
      121 ggatgaactc cttcttagag tacccactct gtaaccgggg acccagcgcc tacagcgccc
      181 acagcgcccc aacctccttt cccccaagct cggctcaggc ggttgacagc tatgcaagcg
      241 agggccgcta cggtgggggg ctgtccagcc ctgcgtttca gcagaactcc ggctatcccg
      301 cccagcagcc gccttcgacc ctgggggtgc ccttccccag ctccgcgccc tcggggtatg
      361 ctcctgccgc ctgcagcccc agctacgggc cttctcagta ctaccctctg ggtcaatcag
      421 aaggagacgg aggctatttt catccctcga gctacggggc ccagctaggg ggcttgtccg
      481 atggctacgg agcaggtgga gccggtccgg ggccatatcc tccgcagcat cccccttatg
      541 ggaacgagca gaccgcgagc tttgcaccgg cctatgctga tctcctctcc gaggacaagg
      601 aaacaccctg cccttcagaa cctaacaccc ccacggcccg gaccttcgac tggatgaagg
      661 ttaagagaaa cccacccaag acagcgaagg tgtcagagcc aggcctgggc tcgcccagtg
      721 gcctccgcac caacttcacc acaaggcagc tgacagaact ggaaaaggag ttccatttca
      781 acaagtacct gagccgggcc cggagggtgg agattgccgc caccctggag ctcaatgaaa
      841 cacaggtcaa gatttggttc cagaaccgac gaatgaagca gaagaagcgc gagcgagagg
      901 aaggtcgggt ccccccagcc ccaccaggct gccccaagga ggcagctgga gatgcctcag
      961 accagtcgac atgcacctcc ccggaagcct cacccagctc tgtcacctcc tgaactgaac
     1021 ctagccacca atggggcttc caggcactgg agcgccccag tccagcccta tcccaggctc
     1081 tccccaaccc caggcctggg cttcactggc ctggggatcc tctctagggc tgaaatgcca
     1141 gtttagagct gcctgggggt gggagggggg atggggaaac atttttctca gacctgggtg
     1201 gctgggggcc ctacaggacc agaggcctgg gaggcatgga acctgtcaaa tgtagaggga
     1261 agggcttctg cctttgatct ggggatcagc tcagtgtcaa catgtggtgg gggtgggggc
     1321 cagcctcatc ctcctggatt catcctcctt tcccttccaa cttgggttta ttcggttcag
     1381 tgccttcgag ctttgaggag tctcctcacg cactcttatc ctaactcccc cttctaggcc
     1441 tgacacagaa ccttaaattt tcttgtgtgg gaggtgtttg ggtgcagcca tattattatc
     1501 aatgcttaat ccagtcacca cagaccttac aatagcacca gctgccttgt gacagaccaa
     1561 aaagcccccc gcccccatct aaccccatta gccctctcct ggcatattta tattgcacta
     1621 atgcagcctt cagaggttgt tttctgagac ctgcctcctc acaccagcga cctcatcact
     1681 atgtcaccaa agtgttttgg aacttggtat tccagagact tctggaacgc cgtgcaaggc
     1741 ctgcccccag caagccacaa ccaggaaggt gcaggcacgc ccccactagc tcctccccta
     1801 tttattgcct cctggaaaac ccaggaccct cttccccatc tccaccccta cccctggggg
     1861 cagcccaggg agagccaggc acaatgaggg ctcccaacag ctgcaaggat ttatctgaac
     1921 ctttgagaaa gaggaggagc catctaagtt tctggaaacc tgagccccaa gtgagcccgg
     1981 gttctctctg tacctgcaac tacctcattt caataaagtc tgtgttttcc cttc
//
