LOCUS       NM_000346               3931 bp    mRNA    linear   PRI 28-NOV-2024
DEFINITION  Homo sapiens SRY-box transcription factor 9 (SOX9), mRNA.
ACCESSION   NM_000346
VERSION     NM_000346.4
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 3931)
  AUTHORS   Gomaa,A., Maacha,S., Peng,D., Soutto,M., Genoula,M., Bhat,N.,
            Cao,L., Zhu,S., Castells,A., Chen,Z., Zaika,A., McDonald,O.G. and
            El-Rifai,W.
  TITLE     SOX9 is regulated by AURKA in response to Helicobacter pylori
            infection via EIF4E-mediated cap-dependent translation
  JOURNAL   Cancer Lett 593, 216939 (2024)
   PUBMED   38729556
  REMARK    GeneRIF: SOX9 is regulated by AURKA in response to Helicobacter
            pylori infection via EIF4E-mediated cap-dependent translation.
REFERENCE   2  (bases 1 to 3931)
  AUTHORS   Gutierrez-Gil,M.C., Espino-Larralde,M., Loza-Gonzalez,V.M. and
            Hernandez-Rodriguez,H.G.
  TITLE     SOX9 immunosuppression in primary colorectal cancer tumors with
            lymph node metastasis
  JOURNAL   Rev Gastroenterol Mex (Engl Ed) 89 (3), 369-378 (2024)
   PUBMED   38862362
  REMARK    GeneRIF: SOX9 immunosuppression in primary colorectal cancer tumors
            with lymph node metastasis.
REFERENCE   3  (bases 1 to 3931)
  AUTHORS   Kwok,C., Weller,P.A., Guioli,S., Foster,J.W., Mansour,S.,
            Zuffardi,O., Punnett,H.H., Dominguez-Steglich,M.A., Brook,J.D.,
            Young,I.D. et al.
  TITLE     Mutations in SOX9, the gene responsible for Campomelic dysplasia
            and autosomal sex reversal
  JOURNAL   Am J Hum Genet 57 (5), 1028-1036 (1995)
   PUBMED   7485151
REFERENCE   4  (bases 1 to 3931)
  AUTHORS   Wagner,T., Wirth,J., Meyer,J., Zabel,B., Held,M., Zimmer,J.,
            Pasantes,J., Bricarelli,F.D., Keutel,J., Hustert,E., Wolf,U.,
            Tommerup,N., Schempp,W. and Scherer,G.
  TITLE     Autosomal sex reversal and campomelic dysplasia are caused by
            mutations in and around the SRY-related gene SOX9
  JOURNAL   Cell 79 (6), 1111-1120 (1994)
   PUBMED   8001137
REFERENCE   5  (bases 1 to 3931)
  AUTHORS   Foster,J.W., Dominguez-Steglich,M.A., Guioli,S., Kwok,C.,
            Weller,P.A., Stevanovic,M., Weissenbach,J., Mansour,S., Young,I.D.,
            Goodfellow,P.N. et al.
  TITLE     Campomelic dysplasia and autosomal sex reversal caused by mutations
            in an SRY-related gene
  JOURNAL   Nature 372 (6506), 525-530 (1994)
   PUBMED   7990924
REFERENCE   6  (bases 1 to 3931)
  AUTHORS   Tommerup,N., Schempp,W., Meinecke,P., Pedersen,S., Bolund,L.,
            Brandt,C., Goodpasture,C., Guldberg,P., Held,K.R., Reinwein,H. et
            al.
  TITLE     Assignment of an autosomal sex reversal locus (SRA1) and campomelic
            dysplasia (CMPD1) to 17q24.3-q25.1
  JOURNAL   Nat Genet 4 (2), 170-174 (1993)
   PUBMED   8348155
REFERENCE   7  (bases 1 to 3931)
  AUTHORS   Unger,S., Scherer,G. and Superti-Furga,A.
  TITLE     Campomelic Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301724
REFERENCE   8  (bases 1 to 3931)
  AUTHORS   Mohnach,L., Fechner,P.Y. and Keegan,C.E.
  TITLE     Nonsyndromic Disorders of Testicular Development Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301714
REFERENCE   9  (bases 1 to 3931)
  AUTHORS   Delot,E.C. and Vilain,E.J.
  TITLE     Nonsyndromic 46,XX Testicular Disorders/Differences of Sex
            Development
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301589
REFERENCE   10 (bases 1 to 3931)
  AUTHORS   Young,I.D., Zuccollo,J.M., Maltby,E.L. and Broderick,N.J.
  TITLE     Campomelic dysplasia associated with a de novo 2q;17q reciprocal
            translocation
  JOURNAL   J Med Genet 29 (4), 251-252 (1992)
   PUBMED   1583645
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007461.8, Z46629.1,
            BC007951.2 and BC018276.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000346.3.
            
            Summary: The protein encoded by this gene recognizes the sequence
            CCTTGAG along with other members of the HMG-box class DNA-binding
            proteins. It acts during chondrocyte differentiation and, with
            steroidogenic factor 1, regulates transcription of the
            anti-Muellerian hormone (AMH) gene. Deficiencies lead to the
            skeletal malformation syndrome campomelic dysplasia, frequently
            with sex reversal. [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 :: Z46629.1, BC056420.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245479.3/ ENSP00000245479.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC007461.8         64244-64256         c
            14-143              Z46629.1           1-130
            144-2342            BC007951.2         1-2199
            2343-3891           AC007461.8         58900-60448         c
            3892-3931           BC018276.1         1192-1231
FEATURES             Location/Qualifiers
     source          1..3931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.3"
     gene            1..3931
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /note="SRY-box transcription factor 9"
                     /db_xref="GeneID:6662"
                     /db_xref="HGNC:HGNC:11204"
                     /db_xref="MIM:608160"
     exon            1..803
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /inference="alignment:Splign:2.1.0"
     CDS             373..1902
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /note="SRY (sex-determining region Y)-box 9 protein;
                     SRY-related HMG-box, gene 9; SRY (sex determining region
                     Y)-box9; SRY-box 9"
                     /codon_start=1
                     /product="transcription factor SOX-9"
                     /protein_id="NP_000337.1"
                     /db_xref="CCDS:CCDS11689.1"
                     /db_xref="GeneID:6662"
                     /db_xref="HGNC:HGNC:11204"
                     /db_xref="MIM:608160"
                     /translation="MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTE
                     NTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNK
                     PHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAER
                     LRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGM
                     SEVHSPGEHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIG
                     ELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYGISSTAATPASAGHV
                     WMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQS
                     QRTHIKTEQLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSS
                     YYSHAAGQGTGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTR
                     P"
     exon            804..1057
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..3931
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3912..3917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /note="hexamer: AATATA"
     polyA_site      3931
                     /gene="SOX9"
                     /gene_synonym="CMD1; CMPD1; ENH13; SRA1; SRXX2; SRXY10;
                     TES; TESCO"
                     /note="major polyA site"
ORIGIN      
        1 ggagagccga aagcggagct cgaaactgac tggaaacttc agtggcgcgg agactcgcca
       61 gtttcaaccc cggaaacttt tctttgcagg aggagaagag aaggggtgca agcgccccca
      121 cttttgctct ttttcctccc ctcctcctcc tctccaattc gcctcccccc acttggagcg
      181 ggcagctgtg aactggccac cccgcgcctt cctaagtgct cgccgcggta gccggccgac
      241 gcgccagctt ccccgggagc cgcttgctcc gcatccgggc agccgagggg agaggagccc
      301 gcgcctcgag tccccgagcc gccgcggctt ctcgcctttc ccggccacca gccccctgcc
      361 ccgggcccgc gtatgaatct cctggacccc ttcatgaaga tgaccgacga gcaggagaag
      421 ggcctgtccg gcgcccccag ccccaccatg tccgaggact ccgcgggctc gccctgcccg
      481 tcgggctccg gctcggacac cgagaacacg cggccccagg agaacacgtt ccccaagggc
      541 gagcccgatc tgaagaagga gagcgaggag gacaagttcc ccgtgtgcat ccgcgaggcg
      601 gtcagccagg tgctcaaagg ctacgactgg acgctggtgc ccatgccggt gcgcgtcaac
      661 ggctccagca agaacaagcc gcacgtcaag cggcccatga acgccttcat ggtgtgggcg
      721 caggcggcgc gcaggaagct cgcggaccag tacccgcact tgcacaacgc cgagctcagc
      781 aagacgctgg gcaagctctg gagacttctg aacgagagcg agaagcggcc cttcgtggag
      841 gaggcggagc ggctgcgcgt gcagcacaag aaggaccacc cggattacaa gtaccagccg
      901 cggcggagga agtcggtgaa gaacgggcag gcggaggcag aggaggccac ggagcagacg
      961 cacatctccc ccaacgccat cttcaaggcg ctgcaggccg actcgccaca ctcctcctcc
     1021 ggcatgagcg aggtgcactc ccccggcgag cactcggggc aatcccaggg cccaccgacc
     1081 ccacccacca cccccaaaac cgacgtgcag ccgggcaagg ctgacctgaa gcgagagggg
     1141 cgccccttgc cagagggggg cagacagccc cctatcgact tccgcgacgt ggacatcggc
     1201 gagctgagca gcgacgtcat ctccaacatc gagaccttcg atgtcaacga gtttgaccag
     1261 tacctgccgc ccaacggcca cccgggggtg ccggccacgc acggccaggt cacctacacg
     1321 ggcagctacg gcatcagcag caccgcggcc accccggcga gcgcgggcca cgtgtggatg
     1381 tccaagcagc aggcgccgcc gccacccccg cagcagcccc cacaggcccc gccggccccg
     1441 caggcgcccc cgcagccgca ggcggcgccc ccacagcagc cggcggcacc cccgcagcag
     1501 ccacaggcgc acacgctgac cacgctgagc agcgagccgg gccagtccca gcgaacgcac
     1561 atcaagacgg agcagctgag ccccagccac tacagcgagc agcagcagca ctcgccccaa
     1621 cagatcgcct acagcccctt caacctccca cactacagcc cctcctaccc gcccatcacc
     1681 cgctcacagt acgactacac cgaccaccag aactccagct cctactacag ccacgcggca
     1741 ggccagggca ccggcctcta ctccaccttc acctacatga accccgctca gcgccccatg
     1801 tacaccccca tcgccgacac ctctggggtc ccttccatcc cgcagaccca cagcccccag
     1861 cactgggaac aacccgtcta cacacagctc actcgacctt gaggaggcct cccacgaagg
     1921 gcgaagatgg ccgagatgat cctaaaaata accgaagaaa gagaggacca accagaattc
     1981 cctttggaca tttgtgtttt tttgtttttt tattttgttt tgttttttct tcttcttctt
     2041 cttccttaaa gacatttaag ctaaaggcaa ctcgtaccca aatttccaag acacaaacat
     2101 gacctatcca agcgcattac ccacttgtgg ccaatcagtg gccaggccaa ccttggctaa
     2161 atggagcagc gaaatcaacg agaaactgga ctttttaaac cctcttcaga gcaagcgtgg
     2221 aggatgatgg agaatcgtgt gatcagtgtg ctaaatctct ctgcctgttt ggactttgta
     2281 attatttttt tagcagtaat taaagaaaaa agtcctctgt gaggaatatt ctctatttta
     2341 aatattttta gtatgtactg tgtatgattc attaccattt tgaggggatt tatacatatt
     2401 tttagataaa attaaatgct cttatttttc caacagctaa actactctta gttgaacagt
     2461 gtgccctagc ttttcttgca accagagtat ttttgtacag atttgctttc tcttacaaaa
     2521 agaaaaaaaa aatcctgttg tattaacatt taaaaacaga attgtgttat gtgatcagtt
     2581 ttgggggtta actttgctta attcctcagg ctttgcgatt taaggaggag ctgccttaaa
     2641 aaaaaataaa ggccttattt tgcaattatg ggagtaaaca atagtctaga gaagcatttg
     2701 gtaagcttta tcatatatat attttttaaa gaagagaaaa acaccttgag ccttaaaacg
     2761 gtgctgctgg gaaacatttg cactctttta gtgcatttcc tcctgccttt gcttgttcac
     2821 tgcagtctta agaaagaggt aaaaggcaag caaaggagat gaaatctgtt ctgggaatgt
     2881 ttcagcagcc aataagtgcc cgagcacact gcccccggtt gcctgcctgg gccccatgtg
     2941 gaaggcagat gcctgctcgc tctgtcacct gtgcctctca gaacaccagc agttaacctt
     3001 caagacattc cacttgctaa aattatttat tttgtaagga gaggttttaa ttaaaacaaa
     3061 aaaaaattct tttttttttt tttttccaat tttaccttct ttaaaatagg ttgttggagc
     3121 tttcctcaaa gggtatggtc atctgttgtt aaattatgtt cttaactgta accagttttt
     3181 ttttatttat ctctttaatc tttttttatt attaaaagca agtttctttg tattcctcac
     3241 cctagatttg tataaatgcc tttttgtcca tccctttttt ctttgttgtt tttgttgaaa
     3301 acaaactgga aacttgtttc tttttttgta taaatgagag attgcaaatg tagtgtatca
     3361 ctgagtcatt tgcagtgttt tctgccacag acctttgggc tgccttatat tgtgtgtgtg
     3421 tgtgggtgtg tgtgtgtttt gacacaaaaa caatgcaagc atgtgtcatc catatttctc
     3481 tgcatcttct cttggagtga gggaggctac ctggagggga tcagcccact gacagacctt
     3541 aatcttaatt actgctgtgg ctagagagtt tgaggattgc tttttaaaaa agacagcaaa
     3601 cttttttttt tatttaaaaa aagatatatt aacagtttta gaagtcagta gaataaaatc
     3661 ttaaagcact cataatatgg catccttcaa tttctgtata aaagcagatc tttttaaaaa
     3721 gatacttctg taacttaaga aacctggcat ttaaatcata ttttgtcttt aggtaaaagc
     3781 tttggtttgt gttcgtgttt tgtttgtttc acttgtttcc ctcccagccc caaacctttt
     3841 gttctctccg tgaaacttac ctttcccttt ttctttctct tttttttttt tgtatattat
     3901 tgtttacaat aaatatacat tgcattaaaa a
//
