LOCUS       NM_173860               3266 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens homeobox C12 (HOXC12), mRNA.
ACCESSION   NM_173860
VERSION     NM_173860.3
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 3266)
  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   2  (bases 1 to 3266)
  AUTHORS   Alvarado,D.M., McCall,K., Hecht,J.T., Dobbs,M.B. and Gurnett,C.A.
  TITLE     Deletions of 5' HOXC genes are associated with lower extremity
            malformations, including clubfoot and vertical talus
  JOURNAL   J Med Genet 53 (4), 250-255 (2016)
   PUBMED   26729820
  REMARK    GeneRIF: The microdeletions share a minimal non-coding region
            overlap upstream of HOXC13, with variable phenotypes depending upon
            HOXC13, HOXC12 or the HOTAIR lncRNA inclusion. Identification of 5'
            HOXC microdeletions highlights the importance of transcriptional
            regulators in the aetiology of severe lower limb malformations and
            will improve their diagnosis and management
REFERENCE   3  (bases 1 to 3266)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 3266)
  AUTHORS   Kosaki,K., Kosaki,R., Suzuki,T., Yoshihashi,H., Takahashi,T.,
            Sasaki,K., Tomita,M., McGinnis,W. and Matsuo,N.
  TITLE     Complete mutation analysis panel of the 39 human HOX genes
  JOURNAL   Teratology 65 (2), 50-62 (2002)
   PUBMED   11857506
REFERENCE   5  (bases 1 to 3266)
  AUTHORS   Flagiello,D., Gibaud,A., Dutrillaux,B., Poupon,M.F. and Malfoy,B.
  TITLE     Distinct patterns of all-trans retinoic acid dependent expression
            of HOXB and HOXC homeogenes in human embryonal and small-cell lung
            carcinoma cell lines
  JOURNAL   FEBS Lett 415 (3), 263-267 (1997)
   PUBMED   9357979
REFERENCE   6  (bases 1 to 3266)
  AUTHORS   Scott,M.P.
  TITLE     Vertebrate homeobox gene nomenclature
  JOURNAL   Cell 71 (4), 551-553 (1992)
   PUBMED   1358459
REFERENCE   7  (bases 1 to 3266)
  AUTHORS   McAlpine,P.J. and Shows,T.B.
  TITLE     Nomenclature for human homeobox genes
  JOURNAL   Genomics 7 (3), 460 (1990)
   PUBMED   1973146
REFERENCE   8  (bases 1 to 3266)
  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 AH010514.2 and AC012531.11.
            
            On Nov 22, 2018 this sequence version replaced NM_173860.2.
            
            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, which are located on different
            chromosomes and consist of 9 to 11 genes arranged in tandem. This
            gene is one of several homeobox HOXC genes located in a cluster on
            chromosome 12. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145893,
                              SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243103.4/ ENSP00000243103.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-637               AH010514.2         36-672
            638-916             AH010514.2         842-1120
            917-3266            AC012531.11        94211-96560
FEATURES             Location/Qualifiers
     source          1..3266
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..3266
                     /gene="HOXC12"
                     /gene_synonym="HOC3F; HOX3; HOX3F"
                     /note="homeobox C12"
                     /db_xref="GeneID:3228"
                     /db_xref="HGNC:HGNC:5124"
                     /db_xref="MIM:142975"
     exon            1..637
                     /gene="HOXC12"
                     /gene_synonym="HOC3F; HOX3; HOX3F"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..876
                     /gene="HOXC12"
                     /gene_synonym="HOC3F; HOX3; HOX3F"
                     /note="homeo box C12; homeo box 3F; homeobox protein
                     Hox-3F"
                     /codon_start=1
                     /product="homeobox protein Hox-C12"
                     /protein_id="NP_776272.1"
                     /db_xref="CCDS:CCDS8866.1"
                     /db_xref="GeneID:3228"
                     /db_xref="HGNC:HGNC:5124"
                     /db_xref="MIM:142975"
                     /translation="MGEHNLLNPGFVGPLVNIHTGDTFYFPNFRASGAQLPGLPSLSY
                     PRRDNVCSLSWPSAEPCNGYPQPYLGSPVSLNPPFGRTCELARVEDGKGYYREPCAEG
                     GGGGLKREERGRDPGAGPGAALLPLEPSGPPALGFKYDYAAGGGGGDGGGGAGPPHDP
                     PSCQSLESDSSSSLLNEGNKGAGAGDPGSLVSPLNPGGGLSASGAPWYPINSRSRKKR
                     KPYSKLQLAELEGEFLVNEFITRQRRRELSDRLNLSDQQVKIWFQNRRMKKKRLLLRE
                     QALSFF"
     exon            638..3266
                     /gene="HOXC12"
                     /gene_synonym="HOC3F; HOX3; HOX3F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3254..3259
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXC12"
                     /gene_synonym="HOC3F; HOX3; HOX3F"
                     /note="hexamer: ATTAAA"
     polyA_site      3266
                     /gene="HOXC12"
                     /gene_synonym="HOC3F; HOX3; HOX3F"
                     /note="major polyA site"
ORIGIN      
        1 agaagctgcc ggtcgggccc cgcggaaatg ggcgagcata atctcctgaa tcccgggttt
       61 gtggggccgc tggtaaacat ccacacggga gacaccttct acttccccaa cttccgcgcg
      121 tccggggcgc agcttcccgg gctgccttcg ctgtcctacc cacgccgcga caacgtgtgc
      181 tccctgtcct ggccgtcggc ggagccgtgc aatggctacc cgcagcccta cctcggcagc
      241 ccagtgtctc tcaaccctcc cttcggccgc acgtgcgagc tggcgcgcgt ggaggacggc
      301 aagggttact accgcgagcc gtgcgccgag ggtggcggcg ggggcctgaa gcgtgaggag
      361 cgcgggcgcg acccgggagc cgggcccggg gcagcgctgc tcccgctgga gccgtcgggg
      421 ccgcctgcgc tcggcttcaa gtacgactac gcggcgggcg gcggcggtgg cgacggcggc
      481 ggcggcgcag gacctccgca cgacccgccc tcctgccagt cgctggaatc cgactccagt
      541 tcgtccctgc tcaacgaggg caacaagggc gccggcgcag gcgaccccgg cagcttggta
      601 tcgccgttga accccggcgg cgggctctcg gccagcggcg cgccctggta cccgatcaac
      661 agccgctctc ggaagaagcg caagccctat tcgaagttgc aactggcaga gctggagggc
      721 gagtttctgg tcaacgagtt catcacacgc cagcgccgga gggaactctc agaccgcttg
      781 aatcttagtg accagcaggt caagatctgg tttcagaacc ggagaatgaa aaagaaaaga
      841 cttctgttga gggagcaagc tctctccttc ttttaaggtg caggacacgg gcgccagccc
      901 cagactgagc ctgtccctgg cagagagcaa aagagggcgc cgcctagaac acagtcccca
      961 cttagaacgc caggcgtctc tggcaggccc tccctggata tcctcttgtc tgttttgttc
     1021 gtggttccct cccatacaca cccaaaacac cctgccaggt cccagagaga agggaagaaa
     1081 cctagccagg gagagcagaa gccggcagct gcctgcggtt ggcaggggca ggaaggctga
     1141 ggtgctgcgg gctggtttat ttgaggcagg actggggcac tgcacctccg ctgaggatct
     1201 ggagaagcag cggcccagat gtccccttcc tctacttccc ttccatggtc ttaattctct
     1261 ttgccgtcag gagcaaagag cagggccagt ggaaccaagg cacctcaacc tcacagttcc
     1321 tggggttaga agaggctggg aagagagagg agggtggagg gtcagcggag agagctgagg
     1381 gagtcaggtg tctctggtag ggctggagga agtggggaac caaggaggaa gtgtggtttg
     1441 tgagaaaatg attagcaaga accagagtct gcttgggtct gggtccccca ggacacccag
     1501 tgggcagaag cttgggcatt tggctggccg ggctgtggac aaggactatc agcctcatgt
     1561 tccctctagg accagaacag tgtcctggtc cccagccctc tcctgatccc gctgcccgca
     1621 ccgggcgaat gtctgttcat aggtgtgctg ccatccactc ctccgttgcc tgcggtggct
     1681 gcaggcctga tgcagcaagc agggacctga gagcccaggg gacacagcct caggttcagt
     1741 agccacccca gaggtcccca gctggctctc cagaaagaaa gtgcaagagg ctgtagatgg
     1801 ggctacggag caccacactg attggccggg agaatttctg acagccacag ccgaggcctc
     1861 tgattctccc ttccccgctg gcgttcacgg tcactgcctc acgggccggc cagagggtgg
     1921 accagcgtaa tttacgaggc gggaggagaa ttcaccctta aaggggctac cagccattga
     1981 ggtcccactc agccccagtt tcccaggccc gtgagaatga aggagggggg cgctccagcc
     2041 ccccacccaa ctcccttctc tcttcctcgc ccgcccccca acattgccct ttgtcttcag
     2101 aagggctgcc tccgcctcct ggcctgcaaa cctccacagc ctagcacatg gaccagagca
     2161 gagggagggg cacagcccta gaacccattg gaggtctgag aatggcttct ctgagtggga
     2221 aggactttca tccagactcc ttcagacccc agccccagcc cagtagacgc tgggctggct
     2281 tggaagagag gagcagtgag agaaccatca acctttctgt acttcatttt tatccttctc
     2341 cccaagagtc ccccagcctc ccatctgctg tccggccctt tccaggagca agaggggtga
     2401 gaagcagggc actgatggga gttaactgca gcctggacag tgtgaaactg gcctgctggc
     2461 ttggagtgtt tcccatatgg ggagagtctc ccctaacaaa ctctccaaag gcaatccacc
     2521 gagcttttta ctctcccacc agcacacagc ttctgtacag gcagaggcaa aggcaaacac
     2581 atacacacag ctgagcccag cacagcactg ggcccacccc actctcccta gtgcactcgc
     2641 aagcaggcag cctcataatc cccacatggc ccagcagaat ggagataaaa tcacatgcct
     2701 ccatcccccg ctgggtatct gacacctgac aattccccat ccacacatac ttgcttcacc
     2761 catgtacaag ttcccccaaa ttaccaccat tccagctgtc tgcagtctcc tgtggtcttc
     2821 ccctgggcat gaagcactcc ccaccttgac tggtcaccca ctgtaccccc tttatgcagc
     2881 ccttcctgtg acctctgggc tctagggtgc tggatttgag ctctaccact ccagactaac
     2941 ctgattccca atctaataat gaagagggac cagaacactc taaaaggagt gaggggacaa
     3001 agatatgcaa tattctcttt ccatttgctt taaacttgac ttctgtgagg ttctctgtca
     3061 atctgtgtct tgttctctgt gtctgtcgct ggtacctagt gtagtccctg tggatagttg
     3121 cccttcccct agctgcctcc ccagctctct gtagtgtaat tctcctattc caacgtctgt
     3181 ctttagcacg ttttcccttt atatagtcct tgtacagagt tgcttcatca tattaatatt
     3241 gataataata ataattaaaa catgaa
//
