LOCUS       NM_000522               5015 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens homeobox A13 (HOXA13), mRNA.
ACCESSION   NM_000522
VERSION     NM_000522.5
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 5015)
  AUTHORS   Mazziotta,C., Iaquinta,M.R., Tramarin,M.L., Badiale,G.,
            Cervellera,C.F., Tonnini,G., Patergnani,S., Pinton,P., Lanza,G.,
            Gafa,R., Tognon,M., Martini,F., De Mattei,M. and Rotondo,J.C.
  TITLE     Hsa-microRNA-1249-3p/Homeobox A13 axis modulates the expression of
            beta-catenin gene in human epithelial cells
  JOURNAL   Sci Rep 13 (1), 22872 (2023)
   PUBMED   38129477
  REMARK    GeneRIF: Hsa-microRNA-1249-3p/Homeobox A13 axis modulates the
            expression of beta-catenin gene in human epithelial cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5015)
  AUTHORS   Liu,J., Feng,H., Wang,D., Wang,Y., Luo,J., Xu,S., Zhao,F. and
            Qin,G.
  TITLE     HOXA13 promotes the proliferation, migration, and invasion of
            nasopharyngeal carcinoma HNE1 cells by upregulating the expression
            of Snail and MMP-2
  JOURNAL   Sci Rep 13 (1), 12978 (2023)
   PUBMED   37563232
  REMARK    GeneRIF: HOXA13 promotes the proliferation, migration, and invasion
            of nasopharyngeal carcinoma HNE1 cells by upregulating the
            expression of Snail and MMP-2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5015)
  AUTHORS   Feng,H., Zhao,F., Luo,J., Xu,S., Liang,Z., Xu,W., Bao,Y. and Qin,G.
  TITLE     Long non-coding RNA HOTTIP exerts an oncogenic function by
            regulating HOXA13 in nasopharyngeal carcinoma
  JOURNAL   Mol Biol Rep 50 (8), 6807-6818 (2023)
   PUBMED   37392284
  REMARK    GeneRIF: Long non-coding RNA HOTTIP exerts an oncogenic function by
            regulating HOXA13 in nasopharyngeal carcinoma.
REFERENCE   4  (bases 1 to 5015)
  AUTHORS   Pagnamenta,A.T., Yu,J., Evans,J., Twiss,P., Offiah,A.C., Wafik,M.,
            Mehta,S.G., Javaid,M.K., Smithson,S.F. and Taylor,J.C.
  CONSRTM   Genomics England Research Consortium; Musculoskeletal GeCIP MDT
  TITLE     Conclusion of diagnostic odysseys due to inversions disrupting GLI3
            and FBN1
  JOURNAL   J Med Genet 60 (5), 505-510 (2023)
   PUBMED   36411030
  REMARK    GeneRIF: Conclusion of diagnostic odysseys due to inversions
            disrupting GLI3 and FBN1.
REFERENCE   5  (bases 1 to 5015)
  AUTHORS   Geng,W., Li,F., Zhang,R., Cao,L., Du,X., Gu,W. and Xu,M.
  TITLE     Hand-foot-genital syndrome due to a duplication variant in the
            GC-rich region of HOXA13
  JOURNAL   Eur J Med Genet 66 (3), 104711 (2023)
   PUBMED   36702441
  REMARK    GeneRIF: Hand-foot-genital syndrome due to a duplication variant in
            the GC-rich region of HOXA13.
REFERENCE   6  (bases 1 to 5015)
  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   7  (bases 1 to 5015)
  AUTHORS   Innis,J.W.
  TITLE     Hand-Foot-Genital Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301596
REFERENCE   8  (bases 1 to 5015)
  AUTHORS   Scott,M.P.
  TITLE     Vertebrate homeobox gene nomenclature
  JOURNAL   Cell 71 (4), 551-553 (1992)
   PUBMED   1358459
REFERENCE   9  (bases 1 to 5015)
  AUTHORS   McAlpine,P.J. and Shows,T.B.
  TITLE     Nomenclature for human homeobox genes
  JOURNAL   Genomics 7 (3), 460 (1990)
   PUBMED   1973146
REFERENCE   10 (bases 1 to 5015)
  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 BC075791.1 and AC004080.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 24, 2019 this sequence version replaced NM_000522.4.
            
            Summary: In vertebrates, the genes encoding the class of
            transcription factors called homeobox genes are found in clusters
            named A, B, C, and D on four separate chromosomes. Expression of
            these proteins is spatially and temporally regulated during
            embryonic development. This gene is part of the A cluster on
            chromosome 7 and encodes a DNA-binding transcription factor which
            may regulate gene expression, morphogenesis, and differentiation.
            Expansion of a polyalanine tract in the encoded protein can cause
            hand-foot-uterus syndrome, also known as hand-foot-genital
            syndrome. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC075791.1, DRR138528.1024657.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649031.1/ ENSP00000497112.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-312               BC075791.1         16-327
            313-313             AC004080.2         73149-73149         c
            314-2039            BC075791.1         329-2054
            2040-2040           AC004080.2         70709-70709         c
            2041-2364           BC075791.1         2056-2379
            2365-5015           AC004080.2         67734-70384         c
FEATURES             Location/Qualifiers
     source          1..5015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.2"
     gene            1..5015
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="homeobox A13"
                     /db_xref="GeneID:3209"
                     /db_xref="HGNC:HGNC:5102"
                     /db_xref="MIM:142959"
     exon            1..936
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1181
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="homeo box A13; homeo box 1J; transcription factor
                     HOXA13; homeobox protein HOXA13; homeobox protein Hox-1J"
                     /codon_start=1
                     /product="homeobox protein Hox-A13"
                     /protein_id="NP_000513.2"
                     /db_xref="CCDS:CCDS5412.1"
                     /db_xref="GeneID:3209"
                     /db_xref="HGNC:HGNC:5102"
                     /db_xref="MIM:142959"
                     /translation="MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAA
                     AAAAAAAGAGGGGFPHPAAAAAGGNFSVAAAAAAAAAAAANQCRNLMAHPAPLAPGAA
                     SAYSSAPGEAPPSAAAAAAAAAAAAAAAAAASSSGGPGPAGPAGAEAAKQCSPCSAAA
                     QSSSGPAALPYGYFGSGYYPCARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAA
                     EEFSSRAKEFAFYHQGYAAGPYHHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESY
                     QPWALPNGWNGQMYCPKEQAQPPHLWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQL
                     KELEREYATNKFITKDKRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS"
     exon            937..5015
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2360..2365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="hexamer: AATAAA"
     polyA_site      2387
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="major polyA site"
     regulatory      3769..3774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="hexamer: AATAAA"
     polyA_site      3789
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="major polyA site"
     regulatory      3953..3958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="hexamer: ATTAAA"
     polyA_site      3976
                     /gene="HOXA13"
                     /gene_synonym="HOX1; HOX1J"
                     /note="major polyA site"
ORIGIN      
        1 atgcggctcg ggctatgaca gcctccgtgc tcctccaccc ccgctggatc gagcccaccg
       61 tcatgtttct ctacgacaac ggcggcggcc tggtggccga cgagctcaac aagaacatgg
      121 aaggggcggc ggcggctgca gcagcggctg cagcggcggc ggctgccggg gccgggggcg
      181 ggggcttccc ccacccggcg gctgcggcgg cagggggcaa cttctcggtg gcggcggcgg
      241 ccgcggctgc ggcggcggcc gcggccaacc agtgccgcaa cctgatggcg cacccggcgc
      301 ccttggcgcc aggagccgcg tccgcctaca gcagcgcccc cggggaggcg cccccgtcgg
      361 ctgccgccgc tgctgccgcg gctgccgctg cagccgccgc cgccgccgcc gcgtcgtcct
      421 cgggaggtcc cggcccggcg ggcccggcgg gcgcagaggc cgccaagcaa tgcagcccct
      481 gctcggcagc ggcgcagagc tcgtcggggc ccgcggcgct gccctatggc tacttcggca
      541 gcggctacta cccgtgcgcc cgcatgggcc cgcaccccaa cgccatcaag tcgtgcgcgc
      601 agcccgcctc ggccgccgcc gccgccgcct tcgcggacaa gtacatggat accgccggcc
      661 cagctgccga ggagttcagc tcccgcgcta aggagttcgc cttctaccac cagggctacg
      721 cagccgggcc ttaccaccac catcagccca tgcctggcta cctggatatg ccagtggtgc
      781 cgggcctcgg gggccccggc gagtcgcgcc acgaaccctt gggtcttccc atggaaagct
      841 accagccctg ggcgctgccc aacggctgga acggccaaat gtactgcccc aaagagcagg
      901 cgcagcctcc ccacctctgg aagtccactc tgcccgacgt ggtctcccat ccctcggatg
      961 ccagctccta taggaggggg agaaagaagc gcgtgcctta taccaaggtg caattaaaag
     1021 aacttgaacg ggaatacgcc acgaataaat tcattactaa ggacaaacgg aggcggatat
     1081 cagccacgac gaatctctct gagcggcagg tcacaatctg gttccagaac aggagggtta
     1141 aagagaaaaa agtcatcaac aaactgaaaa ccactagtta atggattaaa aatagagcaa
     1201 gaaggcaact tgaagaaacg cttcagaact cgttgctttg cccagataat gataataatg
     1261 cttaataata attgaagaat gggaaagaga aagagacaga gactggcatt ttcctctccc
     1321 gaaggagatc tctttctctt taatggaatc tacaactgtt ttaaaacttt aagaaaggta
     1381 aagactgcca gttcttccgc caaccccatc agcccagccc gttaaatgtc aaacgtcaac
     1441 ccccaaaata cgcaatttca gataagttac gcagttactg aaatcttgta agtatttaag
     1501 tgatcgttac attttaggac actgcgttag atggtaataa tctggaagtt ggttacaaac
     1561 gcaagaggcc attgtaaaca tctgcttgtc cttcttaggt cgccattccc tttgcatgtt
     1621 aagcgtctgc tcaggtaaat cttagtgaaa ttcctaccgt tgttgtacgt tctgcaaaac
     1681 attttatgta tagatttaga ggggaaacga gaaggtactg aaataatgat cttggaatat
     1741 ttgctgtgaa gggagaaagg gagagaaaac tcttctgagg atcatttgtc ttggtagtat
     1801 agtaaaacca accagctgaa cctttcaggc tacaagagaa cccgggtcgg taatgtcttt
     1861 ttaagaataa tttttaattg cttataacaa gcatattttg tggcatttga actatattta
     1921 ctgctccaat atccgttatt ttccaaagga ttttgtatct ttttgaaaat gtttacatca
     1981 tcagatgatc cacagaattc actttatgtg agatctcccg agagtttcca tcccaacatg
     2041 atggactttg gtttgaacac aattcgtttt ttcatttgaa ttggcatttc ccaatatttg
     2101 ctaaacattt gctggagaaa tcatttttct tttttctttt ttagaaaact cagaatgaaa
     2161 attcattccc ctgaaatatt taggtgtcta tattctatat tttgatctat taagggatta
     2221 gtatttttcc atgtttattg tgttatcaga gtgcattaga aagattagtg attcatcttc
     2281 acagcacatt tttaatcaag cagttatttc aaccagcaca ttcgttttgt tcatattcac
     2341 tatagaatga tatcttgtaa ataaagacat tcagcacact gtgaaaatgt atttgtgcac
     2401 ctgcttttta aatatttcta ctaaaaatga aaaaaaaaaa cccttagacc tgtagatagt
     2461 gatatcgtaa tattaattgt taataaaata gtcactgcca ttaaaatctg cagaaaatac
     2521 tctttacttt cctatgctaa atgtgcactg cacagaaaga aaaggagcag gtttatctta
     2581 tataaaccaa ggaccattct ttattattat tcagtacttc ttttgctacc aaatttttaa
     2641 gaaaagggag aaatccctca taactaaaat cctaaaaaat gataagtgct tcaaggagat
     2701 taaagtgtca ggtattacaa aagggagaga aaagaaagga ggaagagata gtatgaattc
     2761 ccaggctccc tgtggaaaat gaaaaccagt tgttttgtag cagcaatgcc taggctgtcg
     2821 tattttaaaa tctgctgttg ggtctgcatg tgtctgagag ggcaggtttt gatatttgtt
     2881 gaaatgacag gactacgaaa ggccttaaac cttgaccttg acgaaaaaaa agacaatttg
     2941 tgaccttgac ttttgacagc tcatgaattg gccttagctg gattagtaga tcaagggcgc
     3001 cacctcgcgt tgacaagcct ccttgtaatt cttcaaccaa gggaatcaag agctcttacc
     3061 tccttgactt tagagattca gtactcaatt atttggctcc agctggagca aatttgaata
     3121 tatgtaaatt atacatgtcc ctgtatatat gtaaatatat ataatatgtg tacacatgta
     3181 tacatttgca tattagtgct tgtgtgtgct tgtatatata tttgtagaat ctgtacagat
     3241 atcatatcat taattgctaa tgacgcaaga tattgtaatt taaggtgatt tctagaattg
     3301 aggtacaaaa tgtactttac aagatgaagc cttgttcctt ttctctaatg gccaaatttg
     3361 atttgtcttc acagtggctt gctctgcatc agatttctgc agatctgctt taaagctgta
     3421 catttttgtt acagtctaag atgtgttctt aaatcaccat tccttcctgg tcctcaccct
     3481 ccagggtggt ctcacactgt aattagagct attgaggagt ctttacagca aattaagatt
     3541 cagatgcctt gctaagtcta gagttctaga gttatgtttc agaaagtcta agaaacccac
     3601 ctcttgagag gtcagtaaag aggacttaat atttcatatc tacaaaatga ccacaggatt
     3661 ggatacagaa cgagagttat cctggataac tcagagctga gtactgctcc agggtggtgt
     3721 gcaatcttat attgatgctt gtgaatctgc catttgattt gtaggataaa taaatatgtt
     3781 taatattaac aacttccatc aaaactataa taataatatt atatctactg ttgacctcta
     3841 acaacaatca ggtgctgtat tcagagtcat aaagaataca tatgtatgtt tgtatattta
     3901 atatacacat aggataatgt gtttttgtca aatctatgct atgcgcatat gtattaaaat
     3961 gttggtggaa tcagtagccg tgggatgcag aattgtgaga tgcaggctaa ttttatcttt
     4021 acgttagagg aaagtaatag tgaatggaag aaccagattc atcattttat ggaaaataat
     4081 attgattggt tacaaaagtg gctgccggaa acctctccaa cctctcctga ggactcacaa
     4141 cttctttata gatgagaatt acgaaagagt ctctaaagct gtctcaaaaa caggctggtg
     4201 ttgaaacata catatcgaaa ggtctcgaga aattcaatta tattttgctg ccctgaggat
     4261 tttcactcca cttgtggaaa caaatgataa tgttgcttca gacccacctc tccacctctt
     4321 gttccaaaca gtactccatt tccaaatgag ctgccatcaa gccaaagtaa caactttctc
     4381 ccaaaatgtt taaagtggtg gaaaatcccc tcaaagctgg atcaaactgt gtgtttaaga
     4441 acagctccaa aagggactct tctgttgaca ggggatattt ttctttagat gtaagaaata
     4501 ttctgagcct cgagcctagg aaggaggcca acagcagctc tccagccggg atcccgcccc
     4561 tttcgaaagc catcaccact acaggaaccc tgggtaaagt agtagccttc tttttttctc
     4621 tctctagttt ttgaaactgt aatgacagaa gacatttcag ggttgttgtg gggatttttt
     4681 ccccccagtt ctaaaatggt cattgatagt gtcgatctta cctaactctc ctcctattta
     4741 aaatttctgt ggatctacca gataacctaa agtgggcatg gattatttat tatggctcct
     4801 ttaatgccca aatagcaatc agtctaaaac cttaaaacaa aaacaaaaac aaaaacaaaa
     4861 atcaaggaga gaccagccac ctcctgaaaa ataggaataa tagtatcagc cactgaccca
     4921 tggataatgt tgttgaaagc ctgattaaag tatttttttc taaaaagaaa actcttcctg
     4981 aattaagaaa ataaaaatgg gactttaaaa aaaaa
//
