LOCUS       NM_005986               4558 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens SRY-box transcription factor 1 (SOX1), mRNA.
ACCESSION   NM_005986
VERSION     NM_005986.3
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 4558)
  AUTHORS   Kong,R., Patel,A.S., Sato,T., Jiang,F., Yoo,S., Bao,L., Sinha,A.,
            Tian,Y., Fridrikh,M., Liu,S., Feng,J., He,X., Jiang,J., Ma,Y.,
            Grullon,K., Yang,D., Powell,C.A., Beasley,M.B., Zhu,J.,
            Snyder,E.L., Li,S. and Watanabe,H.
  TITLE     Transcriptional Circuitry of NKX2-1 and SOX1 Defines an
            Unrecognized Lineage Subtype of Small-Cell Lung Cancer
  JOURNAL   Am J Respir Crit Care Med 206 (12), 1480-1494 (2022)
   PUBMED   35848993
  REMARK    GeneRIF: Transcriptional Circuitry of NKX2-1 and SOX1 Defines an
            Unrecognized Lineage Subtype of Small-Cell Lung Cancer.
REFERENCE   2  (bases 1 to 4558)
  AUTHORS   Kontic,M., Jovanovic,D., Kern,I., Nelson,H.H., Bojic,S.,
            Ognjanovic,M. and Ognjanovic,S.
  TITLE     Is hypermethylation of SOX1 gene an independent prognostic marker
            in surgically resected non-small cell lung cancer?
  JOURNAL   J Cancer Res Ther 18 (6), 1692-1696 (2022)
   PUBMED   36412431
  REMARK    GeneRIF: Is hypermethylation of SOX1 gene an independent prognostic
            marker in surgically resected non-small cell lung cancer?
REFERENCE   3  (bases 1 to 4558)
  AUTHORS   Morys,J., Borkowska,P., Zielinska,A. and Kowalski,J.
  TITLE     Study of the influence of NGF-beta gene overexpression in human
            mesenchymal stem cells on the expression level of SOX1 and neural
            pathway genes
  JOURNAL   Mol Biol Rep 49 (6), 4435-4441 (2022)
   PUBMED   35348963
  REMARK    GeneRIF: Study of the influence of NGF-beta gene overexpression in
            human mesenchymal stem cells on the expression level of SOX1 and
            neural pathway genes.
REFERENCE   4  (bases 1 to 4558)
  AUTHORS   Pozo-Giraldez,A., Rodriguez-Borja,E., Diaz-Gimenez,M.,
            Carratala-Calvo,A., Magro-Pose,P. and Perez-Griera,J.
  TITLE     Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton
            syndrome diagnosis by the clinical laboratory
  JOURNAL   Clin Biochem 97, 82-84 (2021)
   PUBMED   34450126
  REMARK    GeneRIF: Discordant SOX-1 antibodies results in paraneoplastic
            Lambert-Eaton syndrome diagnosis by the clinical laboratory.
REFERENCE   5  (bases 1 to 4558)
  AUTHORS   Zhao,Z., Zhang,X., Zhao,X., Cai,J., Wu,N.Y. and Wang,J.
  TITLE     SOX1 and PAX1 Are Hypermethylated in Cervical Adenocarcinoma and
            Associated with Better Prognosis
  JOURNAL   Biomed Res Int 2020, 3981529 (2020)
   PUBMED   33376722
  REMARK    GeneRIF: SOX1 and PAX1 Are Hypermethylated in Cervical
            Adenocarcinoma and Associated with Better Prognosis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4558)
  AUTHORS   Wilson,M. and Koopman,P.
  TITLE     Matching SOX: partner proteins and co-factors of the SOX family of
            transcriptional regulators
  JOURNAL   Curr Opin Genet Dev 12 (4), 441-446 (2002)
   PUBMED   12100890
  REMARK    Review article
REFERENCE   7  (bases 1 to 4558)
  AUTHORS   Bowles,J., Schepers,G. and Koopman,P.
  TITLE     Phylogeny of the SOX family of developmental transcription factors
            based on sequence and structural indicators
  JOURNAL   Dev Biol 227 (2), 239-255 (2000)
   PUBMED   11071752
  REMARK    Review article
REFERENCE   8  (bases 1 to 4558)
  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   9  (bases 1 to 4558)
  AUTHORS   Nishiguchi,S., Wood,H., Kondoh,H., Lovell-Badge,R. and Episkopou,V.
  TITLE     Sox1 directly regulates the gamma-crystallin genes and is essential
            for lens development in mice
  JOURNAL   Genes Dev 12 (6), 776-781 (1998)
   PUBMED   9512512
  REMARK    GeneRIF: A similar protein directly regulates the gamma-crystallin
            genes and is essential for lens development in mice.
REFERENCE   10 (bases 1 to 4558)
  AUTHORS   Malas,S., Duthie,S.M., Mohri,F., Lovell-Badge,R. and Episkopou,V.
  TITLE     Cloning and mapping of the human SOX1: a highly conserved gene
            expressed in the developing brain
  JOURNAL   Mamm Genome 8 (11), 866-868 (1997)
   PUBMED   9337405
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138691.15.
            
            On May 17, 2019 this sequence version replaced NM_005986.2.
            
            Summary: This intronless 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
            activator after forming a protein complex with other proteins. In
            mice, a similar protein regulates the gamma-crystallin genes and is
            essential for lens development. [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.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330949.3/ ENSP00000330218.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4558              AL138691.15        11800-16357         c
FEATURES             Location/Qualifiers
     source          1..4558
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q34"
     gene            1..4558
                     /gene="SOX1"
                     /note="SRY-box transcription factor 1"
                     /db_xref="GeneID:6656"
                     /db_xref="HGNC:HGNC:11189"
                     /db_xref="MIM:602148"
     exon            1..4558
                     /gene="SOX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             511..1686
                     /gene="SOX1"
                     /note="SRY-related HMG-box gene 1; SRY (sex determining
                     region Y)-box 1; SRY-box 1"
                     /codon_start=1
                     /product="transcription factor SOX-1"
                     /protein_id="NP_005977.2"
                     /db_xref="CCDS:CCDS9523.1"
                     /db_xref="GeneID:6656"
                     /db_xref="HGNC:HGNC:11189"
                     /db_xref="MIM:602148"
                     /translation="MYSMMMETDLHSPGGAQAPTNLSGPAGAGGGGGGGGGGGGGGGA
                     KANQDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWKVMSEAEKRPFID
                     EAKRLRALHMKEHPDYKYRPRRKTKTLLKKDKYSLAGGLLAAGAGGGGAAVAMGVGVG
                     VGAAAVGQRLESPGGAAGGGYAHVNGWANGAYPGSVAAAAAAAAMMQEAQLAYGQHPG
                     AGGAHPHAHPAHPHPHHPHAHPHNPQPMHRYDMGALQYSPISNSQGYMSASPSGYGGL
                     PYGAAAAAAAAAGGAHQNSAVAAAAAAAAASSGALGALGSLVKSEPSGSPPAPAHSRA
                     PCPGDLREMISMYLPAGEGGDPAAAAAAAAQSRLHSLPQHYQGAGAGVNGTVPLTHI"
     regulatory      3317..3322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX1"
                     /note="hexamer: ATTAAA"
     polyA_site      3340
                     /gene="SOX1"
                     /note="major polyA site"
     regulatory      3949..3954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX1"
                     /note="hexamer: AATATA"
     polyA_site      3968
                     /gene="SOX1"
ORIGIN      
        1 agcacatgcc cagcgcacgc ggcgcgccgc cctgctagaa gttgcagcct ccgagttgga
       61 ggccgctgag gaccgagcgc aggaggaagg agacagcgcg cagcggcggc cggcgaggag
      121 acagcacacc ccgggccggg cccagcgcac cgctcccggc cccaaaagcg gagctgcaac
      181 ttggccacga ctgcacctgt ttgcaccgct ccgccgaggg cgcctgggct gcggtggcgg
      241 cgaagacggc gaccccgacc gtcggcctct ttggcaagtg gtttgtgcat caggagaaac
      301 tttccacctg cgagccgaac cggcgccgag tgcgtgtgtt tctgcctttt tttgttgtcg
      361 ttgcctccac ccctccccat tcttctctcc gctaggaccc ccccgccccc gtctcactcc
      421 gtctgaattc ctctccgtct ccctcccacc ccggccgtct atgctccagg ccctctcctc
      481 gcggtgccgg tgaacccgcc agccgccccg atgtacagca tgatgatgga gaccgacctg
      541 cactcgcccg gcggcgccca ggcccccacg aacctctcgg gccccgccgg ggcgggcggc
      601 ggcgggggcg gaggcggggg cggcggcggc ggcgggggcg ccaaggccaa ccaggaccgg
      661 gtcaaacggc ccatgaacgc cttcatggtg tggtcccgcg ggcagcggcg caagatggcc
      721 caggagaacc ccaagatgca caactcggag atcagcaagc gcctgggggc cgagtggaag
      781 gtcatgtccg aggccgagaa gcggccgttc atcgacgagg ccaagcggct gcgcgcgctg
      841 cacatgaagg agcacccgga ttacaagtac cggccgcgcc gcaagaccaa gacgctgctc
      901 aagaaggaca agtactcgct ggccggcggg ctcctggcgg ccggcgcggg tggcggcggc
      961 gcggctgtgg ccatgggcgt gggcgtgggc gtgggcgcgg cggccgtggg ccagcgcctg
     1021 gagagcccag gcggcgcggc gggcggcggc tacgcgcacg tcaacggctg ggccaacggc
     1081 gcctaccccg gctcggtggc ggcggcggcg gcggccgcgg ccatgatgca ggaggcgcag
     1141 ctggcctacg ggcagcaccc gggcgcgggc ggcgcgcacc cgcacgcgca ccccgcgcac
     1201 ccgcacccgc accacccgca cgcgcacccg cacaacccgc agcccatgca ccgctacgac
     1261 atgggcgcgc tgcagtacag ccccatctcc aactcgcagg gctacatgag cgcgtcgccc
     1321 tcgggctacg gcggcctccc ctacggcgcc gcggccgccg ccgccgccgc tgcgggcggc
     1381 gcgcaccaga actcggccgt ggcggcggcg gcggcggcgg cggccgcgtc gtcgggcgcc
     1441 ctgggcgcgc tgggctctct ggtgaagtcg gagcccagcg gcagcccgcc cgccccagcg
     1501 cactcgcggg cgccgtgccc cggggacctg cgcgagatga tcagcatgta cttgcccgcc
     1561 ggcgaggggg gcgacccggc ggcggcagca gcggccgcgg cgcagagccg gctgcactcg
     1621 ctgccgcagc actaccaggg cgcgggcgcg ggcgtgaacg gcacggtgcc cctgacgcac
     1681 atctagcgcc ttcgggacgc cggggactct gcggcggcga cccacgagct cgcggcccgc
     1741 gcccggctcc cgccccgccc cggcgcggcg tggcttttgt acagacgttc ccacattctt
     1801 gtcaaaagga aaatactgga gacgaacgcc gggtgacgcg tgtcccccac tcaccttccc
     1861 cggagaccct ggcgaccgcc gggcgctgac accagacttg ggttttagac tgaacttcgg
     1921 tgttttcttg agactttttg tacagtattt atcacctacg gaggaagcgg aaagcgtttt
     1981 ctttgctcga ggggacaaaa aagtcaaaac gaggcgagag gcgaagccca cttttgtata
     2041 ccggccggcg cgctcacttt cctccgcgtt gcttccggac ggcgccgacc gccggagccc
     2101 aagtgacgcg gagctcgtcg catttgttat aaatgtagta aggcaggtcc aagcacttac
     2161 aagttttttg tagttgttac cgctcttttg ggttggtttg ttaatttata caaagagatt
     2221 accaccacca ccccctcctt cagacggcgg agttatattc tgggttttgt aaaactttat
     2281 gtatctgagc atttccattt ttttttttgg gttttgtatt atttcttgta aatgcattgt
     2341 gaaaaatttt attttcggcg ttgcaatgcg gggaggagaa gtcagattat gtacatagtt
     2401 ttctaaaaag cctttcttct aaaaacgaaa aaagaccccc cacccaaaat gtttcgagtc
     2461 aacaaattta agagacagag cccattttct ccataaattt gtaacatgct atttttatgt
     2521 gcatgtttta tgagttcaaa atgcaatgag gaaatctgac agggaaatta tctgtatgaa
     2581 ctaaaagtaa gggaaccccg gggaatggga ggacaggatt tttcaaggaa cctttttcaa
     2641 tgaaagagaa ggaagttaaa acctataggt tattttgtag agctgagtgt taatacgggc
     2701 cgagaaataa aagtatcttc tgctccggct gtttcactgc ggacggctgg ggctgctgcg
     2761 cgttaccttg ctgcaagcgg ggcgccttcc acctggctgg gggtctgcgc cacagtttgg
     2821 tccagaggag ggaggaggaa gggaagaccc cagtggtggg accctggacc aggccatgga
     2881 tgaaggacaa agaccagggc aggtcacggg tttcccaatt ccccagcaat taagatttcg
     2941 agcagaattt atctaaatgt gtttcaagga aacacaatcg ctgaaccaaa acgtactgca
     3001 gccgagcccc ctccgtccat cctctgcccc tccccctggc ttctttctct tgggaaaacg
     3061 ggcaaaataa ttgtgctgga ttctcacaca cacagaaata tcgaccatca ccctcccccg
     3121 cgtgaactgg gatgcaagtt gctaaccgat gtgaacgcaa aatgccttgt tcattattcc
     3181 tgacgagatc ttgaggttgt ttgatgcttt aaatttttta attatattat tttctaggtg
     3241 tttattggta cattgcagtt ttttttttga aatttaaaaa tttctgtaaa actttgtctt
     3301 caagtaatct gacagcatta aatattgcat ttaaaaatta tactgtagca aatacattta
     3361 aaaattaatc acaacgttaa gatgaaatta tatttttgga aaaaaaaaac acttgaagcc
     3421 cagatggaaa tacgtttatt tcagcagcct taggtttccc ctcgctttct caacaccctt
     3481 ccttgtcctg gagtatggac tgtccgtcca aaagtgagcc tatgctataa gtttaatgag
     3541 aaccgaattc agcctgcatt cgagaatagc tttaagtata atgctgatct gacaattgac
     3601 gtgtaatttg ggaagtcatt ttgataattt tgcttaaacc actcattcgt taaagtgatt
     3661 acaaaaaagt tcaagaatga tgtccactgc tttctaacaa gataataaac cccccccctc
     3721 ttttcttttt ctttattttt atttctttta gctatttgat cctttctgaa gcagttgttt
     3781 ctggaagagt ctgtgcgccc atggatggct gagcaccact acgacttagt ccgggataag
     3841 ggcctcccca gtcctctccg ggagatgatt tgggaaattt tataatgctt gttctgttaa
     3901 ctcaccggga ccttgagggt ccaatgggac cttgagggtt ttctctgaaa tatacaaact
     3961 taaaggactc tctctgaggt tctttgactg acgtccactc tcagtctggc ccctgtgctc
     4021 ccctgtgtgt accctggagt ttctgtgtcc aattgttggc atctaggtct tggctcaaga
     4081 ttaggatgtg ggccccactt tagaggcaca gactatgaaa agctgagtta gtgcgcccgg
     4141 gacgccaggc aagcagcttt tacagtttgg catcttattg caggtgcttc gtgcacagtc
     4201 agctgaaata gccaatgcca ggtgctccaa ccaccttatt tccttgtttt gttgattaga
     4261 acaacacaga aaaaagcaaa tataaatttt taatgactcc atttaaaaat atcacagggt
     4321 gggggcaagg aaattagctg agattcatct caggattgag attctatccc cccttccccg
     4381 cccccagcag tgtcgctcca attcaaatta gtggagaaaa gattacagta ggccctgagc
     4441 cgactgtgaa ttcggtgctt ggccaaggta acactcatcg tattcacgga gtgaaatact
     4501 atatgatgat agttattata ttatatgacg acttcattca cttcccaaat cacagggt
//
