LOCUS       NM_005634               2085 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens SRY-box transcription factor 3 (SOX3), mRNA.
ACCESSION   NM_005634
VERSION     NM_005634.3
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 2085)
  AUTHORS   Silveira,A.C.J., Guimaraes,L.S., VON Held,R., Silva,E.B.D.,
            Silveira,F.M., Oliveira Neto,Z.C., Scariot,R., Winckler,C.,
            Kuchler,E.C., Brancher,J.A., Antunes,L.A.A. and Antunes,L.S.
  TITLE     Do SOD2 and SOD3 gene polymorphisms impact the oral health-related
            quality of life in Para athletes?
  JOURNAL   Braz Oral Res 38, e074 (2024)
   PUBMED   39109770
  REMARK    GeneRIF: Do SOD2 and SOD3 gene polymorphisms impact the oral
            health-related quality of life in Para athletes?
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2085)
  AUTHORS   Del Puerto,H.L., Miranda,A.P.G.S., Qutob,D., Ferreira,E.,
            Silva,F.H.S., Lima,B.M., Carvalho,B.A., Roque-Souza,B., Gutseit,E.,
            Castro,D.C., Pozzolini,E.T., Duarte,N.O., Lopes,T.B.G.,
            Taborda,D.Y.O., Quirino,S.M., Elgerbi,A., Choy,J.S. and
            Underwood,A.
  TITLE     Clinical Correlation of Transcription Factor SOX3 in Cancer:
            Unveiling Its Role in Tumorigenesis
  JOURNAL   Genes (Basel) 15 (6), 777 (2024)
   PUBMED   38927713
  REMARK    GeneRIF: Clinical Correlation of Transcription Factor SOX3 in
            Cancer: Unveiling Its Role in Tumorigenesis.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2085)
  AUTHORS   Guo,R., Guo,Y.Z., Zhou,Q., Li,G., Du,Z., Shi,Y. and Xing,Q.
  TITLE     ROR2 deficit may induce the tetralogy of Fallot via down-regulating
            of beta-catenin/SOX3/HSPA6 in vitro and in vivo
  JOURNAL   J Cell Mol Med 27 (22), 3539-3552 (2023)
   PUBMED   37749917
  REMARK    GeneRIF: ROR2 deficit may induce the tetralogy of Fallot via
            down-regulating of beta-catenin/SOX3/HSPA6 in vitro and in vivo.
REFERENCE   4  (bases 1 to 2085)
  AUTHORS   de Boer,E., Marcelis,C., Neveling,K., van Beusekom,E., Hoischen,A.,
            Klein,W.M., de Leeuw,N., Mantere,T., Melo,U.S., van Reeuwijk,J.,
            Smeets,D., Spielmann,M., Kleefstra,T., van Bokhoven,H. and
            Vissers,L.E.L.M.
  TITLE     A complex structural variant near SOX3 causes X-linked
            split-hand/foot malformation
  JOURNAL   HGG Adv 4 (3), 100200 (2023)
   PUBMED   37216008
  REMARK    GeneRIF: A complex structural variant near SOX3 causes X-linked
            split-hand/foot malformation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2085)
  AUTHORS   Silva,F.H.S., Underwood,A., Almeida,C.P., Ribeiro,T.S.,
            Souza-Fagundes,E.M., Martins,A.S., Eliezeck,M., Guatimosim,S.,
            Andrade,L.O., Rezende,L., Gomes,H.W., Oliveira,C.A.,
            Rodrigues,R.C., Borges,I.T., Cassali,G.D., Ferreira,E. and Del
            Puerto,H.L.
  TITLE     Transcription factor SOX3 upregulated pro-apoptotic genes
            expression in human breast cancer
  JOURNAL   Med Oncol 39 (12), 212 (2022)
   PUBMED   36175695
  REMARK    GeneRIF: Transcription factor SOX3 upregulated pro-apoptotic genes
            expression in human breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2085)
  AUTHORS   Kamachi,Y., Uchikawa,M. and Kondoh,H.
  TITLE     Pairing SOX off: with partners in the regulation of embryonic
            development
  JOURNAL   Trends Genet 16 (4), 182-187 (2000)
   PUBMED   10729834
  REMARK    Review article
REFERENCE   7  (bases 1 to 2085)
  AUTHORS   Lagerstrom-Fermer,M., Sundvall,M., Johnsen,E., Warne,G.L.,
            Forrest,S.M., Zajac,J.D., Rickards,A., Ravine,D., Landegren,U. and
            Pettersson,U.
  TITLE     X-linked recessive panhypopituitarism associated with a regional
            duplication in Xq25-q26
  JOURNAL   Am J Hum Genet 60 (4), 910-916 (1997)
   PUBMED   9106538
REFERENCE   8  (bases 1 to 2085)
  AUTHORS   Stevanovic,M., Lovell-Badge,R., Collignon,J. and Goodfellow,P.N.
  TITLE     SOX3 is an X-linked gene related to SRY
  JOURNAL   Hum Mol Genet 2 (12), 2013-2018 (1993)
   PUBMED   8111369
REFERENCE   9  (bases 1 to 2085)
  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 2085)
  AUTHORS   Denny,P., Swift,S., Brand,N., Dabhade,N., Barton,P. and Ashworth,A.
  TITLE     A conserved family of genes related to the testis determining gene,
            SRY
  JOURNAL   Nucleic Acids Res 20 (11), 2887 (1992)
   PUBMED   1614875
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121875.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_005634.2.
            
            Summary: This gene encodes a member of the SOX (SRY-related
            HMG-box) family of transcription factors involved in the regulation
            of embryonic development and in the determination of the cell fate.
            The encoded protein may act as a transcriptional regulator after
            forming a protein complex with other proteins. Mutations in this
            gene have been associated with X-linked cognitive disability with
            growth hormone deficiency. [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 is intronless :: AK313820.1, BC093863.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370536.5/ ENSP00000359567.2
            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
            1-2085              AL121875.10        105168-107252       c
FEATURES             Location/Qualifiers
     source          1..2085
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.1"
     gene            1..2085
                     /gene="SOX3"
                     /gene_synonym="GHDX; MRGH; PHP; PHPX; SOXB"
                     /note="SRY-box transcription factor 3"
                     /db_xref="GeneID:6658"
                     /db_xref="HGNC:HGNC:11199"
                     /db_xref="MIM:313430"
     exon            1..2085
                     /gene="SOX3"
                     /gene_synonym="GHDX; MRGH; PHP; PHPX; SOXB"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1350
                     /gene="SOX3"
                     /gene_synonym="GHDX; MRGH; PHP; PHPX; SOXB"
                     /note="SRY (sex determining region Y)-box 3; SRY-box 3"
                     /codon_start=1
                     /product="transcription factor SOX-3"
                     /protein_id="NP_005625.2"
                     /db_xref="CCDS:CCDS14669.1"
                     /db_xref="GeneID:6658"
                     /db_xref="HGNC:HGNC:11199"
                     /db_xref="MIM:313430"
                     /translation="MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAP
                     TESQGLFTVAAPAPGAPSPPATLAHLLPAPAMYSLLETELKNPVGTPTQAAGTGGPAA
                     PGGAGKSSANAAGGANSGGGSSGGASGGGGGTDQDRVKRPMNAFMVWSRGQRRKMALE
                     NPKMHNSEISKRLGADWKLLTDAEKRPFIDEAKRLRAVHMKEYPDYKYRPRRKTKTLL
                     KKDKYSLPSGLLPPGAAAAAAAAAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQ
                     EQLGYAQPPSMSSPPPPPALPPMHRYDMAGLQYSPMMPPGAQSYMNVAAAAAAASGYG
                     GMAPSATAAAAAAYGQQPATAAAAAAAAAAMSLGPMGSVVKSEPSSPPPAIASHSQRA
                     CLGDLRDMISMYLPPGGDAADAASPLPGGRLHGVHQHYQGAGTAVNGTVPLTHI"
     regulatory      2068..2073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX3"
                     /gene_synonym="GHDX; MRGH; PHP; PHPX; SOXB"
                     /note="hexamer: AATAAA"
     polyA_site      2085
                     /gene="SOX3"
                     /gene_synonym="GHDX; MRGH; PHP; PHPX; SOXB"
                     /note="major polyA site"
ORIGIN      
        1 agactgtgaa tgcgacctgt tcgagagaac tcatcaggtg cgagaagccc gcgggttcct
       61 gctgatttgg cgcggagcat tttgataagc ctacccttcc cgccggactc gctggcccac
      121 aggcccccaa gctccgctcc gacggagtcc cagggccttt tcaccgtggc cgctccagcc
      181 ccgggagcgc cttctcctcc cgccacgctg gcgcaccttc ttcccgcccc ggcaatgtac
      241 agccttctgg agactgaact caagaacccc gtagggacac ccacacaagc ggcgggcacc
      301 ggcggccccg cagccccggg aggcgcaggc aagagtagtg cgaacgcagc cggcggcgcg
      361 aactcgggcg gcggcagcag cggtggtgcg agcggaggtg gcgggggtac agaccaggac
      421 cgtgtgaaac ggcccatgaa cgccttcatg gtatggtccc gcgggcagcg gcgcaaaatg
      481 gccctggaga accccaagat gcacaattct gagatcagca agcgcttggg cgccgactgg
      541 aaactgctga ccgacgccga gaagcgacca ttcatcgacg aggccaagcg acttcgcgcc
      601 gtgcacatga aggagtatcc ggactacaag taccgaccgc gccgcaagac caagacgctg
      661 ctcaagaaag ataagtactc cctgcccagc ggcctcctgc ctcccggtgc cgcggccgcc
      721 gccgccgctg ccgcggccgc agccgctgcc gccagcagtc cggtgggcgt gggccagcgc
      781 ctggacacgt acacgcacgt gaacggctgg gccaacggcg cgtactcgct ggtgcaggag
      841 cagctgggct acgcgcagcc cccgagcatg agcagcccgc cgccgccgcc cgcgctgccg
      901 ccgatgcacc gctacgacat ggccggcctg cagtacagcc caatgatgcc gcccggcgct
      961 cagagctaca tgaacgtcgc tgccgcggcc gccgccgcct cgggctacgg gggcatggcg
     1021 ccctcagcca cagcagccgc ggccgccgcc tacgggcagc agcccgccac cgccgcggcc
     1081 gcagctgcgg ccgcagccgc catgagcctg ggccccatgg gctcggtagt gaagtctgag
     1141 cccagctcgc cgccgcccgc catcgcatcg cactctcagc gcgcgtgcct cggcgacctg
     1201 cgcgacatga tcagcatgta cctgccaccc ggcggggacg cggccgacgc cgcctctccg
     1261 ctgcccggcg gtcgcctgca cggcgtgcac cagcactacc agggcgccgg gactgcagtc
     1321 aacggaacgg tgccgctgac ccacatctga gcaccggcct gcgctcgtcc acccttgttc
     1381 cccaccccca cccccactcc cgccccgcac ccccaagttg ggacgccttg tttagctttg
     1441 cttgcctggg actgttgcct tgtaccgatg atggggaggg ctgaaagttt tgctgtagct
     1501 gtcgggtttt gtacaaaagc aaaaataagt caggagcagc gaaaatggga cttctagaga
     1561 gctctcttgc cccacgccgc tgctcctttc acctttgtag gctgggaatc gctgtgttat
     1621 ttgcaaagaa aaaacagccc ccactcctcc tcctgagttc cagggttatt ctgttacatt
     1681 tgaaaatgtt gtcttgttag tttgcagtta gccaaggagt gaatgggaga aacatagtat
     1741 cgggtgaggc cagctggaga actgcaacgc ctacgccccc agtcgtgtcg cgtctgtttt
     1801 cctcgtggtt ttttggggcg ctgaccgctc caagcagcgc ggcagctaaa gccaatgtta
     1861 atttatagcc aggtgtgcgt gtgtctcccg cctcgccgcc cctggccgcg ggacagcttc
     1921 tgtccaatca tgttgagttg gtgatttctg ccgtgatctg tttgatattt cttcgcgcta
     1981 atgtgttcag atttcgtttg ggtagtgggg aggggctact ttgtttcagg gttttcaagc
     2041 ttttactctt aattcctaaa tgagatcaat aaattttata accaa
//
