LOCUS       NM_014587               3087 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SRY-box transcription factor 8 (SOX8), mRNA.
ACCESSION   NM_014587
VERSION     NM_014587.5
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 3087)
  AUTHORS   Rjiba,K., Mougou-Zerelli,S., Hamida,I.H., Saad,G., Khadija,B.,
            Jelloul,A., Slimani,W., Hasni,Y., Dimassi,S., Khelifa,H.B.,
            Sallem,A., Kammoun,M., Abdallah,H.H., Gribaa,M.,
            Bignon-Topalovic,J., Chelly,S., Khairi,H., Bibi,M., Kacem,M.,
            Saad,A., Bashamboo,A. and McElreavey,K.
  TITLE     Additional evidence for the role of chromosomal imbalances and
            SOX8, ZNRF3 and HHAT gene variants in early human testis
            development
  JOURNAL   Reprod Biol Endocrinol 21 (1), 2 (2023)
   PUBMED   36631813
  REMARK    GeneRIF: Additional evidence for the role of chromosomal imbalances
            and SOX8, ZNRF3 and HHAT gene variants in early human testis
            development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3087)
  AUTHORS   Du,Z., Chen,X., Zhu,P., Sun,W., Lv,Q., Cheng,S., Yang,X. and Yu,X.
  TITLE     SOX8 Knockdown Overcomes Enzalutamide Resistance in
            Castration-Resistant Prostate Cancer by Inhibiting the Notch
            Signaling Pathway
  JOURNAL   Biomed Res Int 2022, 9235837 (2022)
   PUBMED   36246971
  REMARK    GeneRIF: SOX8 Knockdown Overcomes Enzalutamide Resistance in
            Castration-Resistant Prostate Cancer by Inhibiting the Notch
            Signaling Pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3087)
  AUTHORS   Piao,H.Y., Qu,J.L. and Liu,Y.P.
  TITLE     SOX8 promotes cetuximab resistance via HGF/MET bypass pathway
            activation in colorectal cancer
  JOURNAL   Cancer Chemother Pharmacol 89 (4), 441-449 (2022)
   PUBMED   35195773
  REMARK    GeneRIF: SOX8 promotes cetuximab resistance via HGF/MET bypass
            pathway activation in colorectal cancer.
REFERENCE   4  (bases 1 to 3087)
  AUTHORS   Wu,S., Shao,M., Zhang,Y. and Shi,D.
  TITLE     Activation of RSK2 upregulates SOX8 to promote methotrexate
            resistance in gestational trophoblastic neoplasia
  JOURNAL   Lab Invest 101 (11), 1494-1504 (2021)
   PUBMED   34373588
  REMARK    GeneRIF: Activation of RSK2 upregulates SOX8 to promote
            methotrexate resistance in gestational trophoblastic neoplasia.
REFERENCE   5  (bases 1 to 3087)
  AUTHORS   Tian,W., Li,Z., Bai,L., Chen,L., Yan,Y., Li,H., Han,Y., Teng,F.,
            Gao,C., Xue,F. and Wang,Y.
  TITLE     The oncogenic role of SOX8 in endometrial carcinoma
  JOURNAL   Cancer Biol Ther 21 (12), 1136-1144 (2020)
   PUBMED   33190587
  REMARK    GeneRIF: The oncogenic role of SOX8 in endometrial carcinoma.
REFERENCE   6  (bases 1 to 3087)
  AUTHORS   Cheng,Y.C., Lee,C.J., Badge,R.M., Orme,A.T. and Scotting,P.J.
  TITLE     Sox8 gene expression identifies immature glial cells in developing
            cerebellum and cerebellar tumours
  JOURNAL   Brain Res Mol Brain Res 92 (1-2), 193-200 (2001)
   PUBMED   11483257
REFERENCE   7  (bases 1 to 3087)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
REFERENCE   8  (bases 1 to 3087)
  AUTHORS   Schepers,G.E., Bullejos,M., Hosking,B.M. and Koopman,P.
  TITLE     Cloning and characterisation of the Sry-related transcription
            factor gene Sox8
  JOURNAL   Nucleic Acids Res 28 (6), 1473-1480 (2000)
   PUBMED   10684944
REFERENCE   9  (bases 1 to 3087)
  AUTHORS   Pfeifer,D., Poulat,F., Holinski-Feder,E., Kooy,F. and Scherer,G.
  TITLE     The SOX8 gene is located within 700 kb of the tip of chromosome 16p
            and is deleted in a patient with ATR-16 syndrome
  JOURNAL   Genomics 63 (1), 108-116 (2000)
   PUBMED   10662550
REFERENCE   10 (bases 1 to 3087)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009041.10, BC031797.1 and
            KF456143.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014587.4.
            
            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 activator after
            forming a protein complex with other proteins. This protein may be
            involved in brain development and function. Haploinsufficiency for
            this protein may contribute to the cognitive disability found in an
            alpha-thalassemia-related syndrome (ART-16). This protein is also
            highly expressed in the majority of human hepatocellular carcinomas
            and promotes cellular proliferation and enhanced tumor growth.
            [provided by RefSeq, Jul 2017].
            
            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 :: BC031797.1, AF164104.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293894.4/ ENSP00000293894.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                AC009041.10        52121-52158
            39-939              BC031797.1         1-901
            940-1100            KF456143.1         152-312
            1101-3087           AC009041.10        55344-57330
FEATURES             Location/Qualifiers
     source          1..3087
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3087
                     /gene="SOX8"
                     /note="SRY-box transcription factor 8"
                     /db_xref="GeneID:30812"
                     /db_xref="HGNC:HGNC:11203"
                     /db_xref="MIM:605923"
     exon            1..575
                     /gene="SOX8"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..1494
                     /gene="SOX8"
                     /note="SRY (sex determining region Y)-box 8; SRY-box 8"
                     /codon_start=1
                     /product="transcription factor SOX-8"
                     /protein_id="NP_055402.2"
                     /db_xref="CCDS:CCDS10428.1"
                     /db_xref="GeneID:30812"
                     /db_xref="HGNC:HGNC:11203"
                     /db_xref="MIM:605923"
                     /translation="MLDMSEARSQPPCSPSGTASSMSHVEDSDSDAPPSPAGSEGLGR
                     AGVAVGGARGDPAEAADERFPACIRDAVSQVLKGYDWSLVPMPVRGGGGGALKAKPHV
                     KRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLSESEKRPFVEEAERLRV
                     QHKKDHPDYKYQPRRRKSAKAGHSDSDSGAELGPHPGGGAVYKAEAGLGDGHHHGDHT
                     GQTHGPPTPPTTPKTELQQAGAKPELKLEGRRPVDSGRQNIDFSNVDISELSSEVMGT
                     MDAFDVHEFDQYLPLGGPAPPEPGQAYGGAYFHAGASPVWAHKSAPSASASPTETGPP
                     RPHIKTEQPSPGHYGDQPRGSPDYGSCSGQSSATPAAPAGPFAGSQGDYGDLQASSYY
                     GAYPGYAPGLYQYPCFHSPRRPYASPLLNGLALPPAHSPTSHWDQPVYTTLTRP"
     exon            576..808
                     /gene="SOX8"
                     /inference="alignment:Splign:2.1.0"
     exon            809..3087
                     /gene="SOX8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3064..3069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX8"
                     /note="hexamer: ATTAAA"
     polyA_site      3087
                     /gene="SOX8"
                     /note="major polyA site"
ORIGIN      
        1 gggacccgag cctcggcggc ggcggcggcg gcggcagggg cgagggtcgg ggccaccgcg
       61 cggcgacctc gggtcccgga gcgaccgcag ggcagccccg ggcgccggcc ccggtgcgcg
      121 tctcctgtgc gcgcccctcc gcgcgcggcc ccgatgctgg acatgagcga ggcccgctcc
      181 cagccgccct gcagcccgtc cggcaccgcc agctccatgt cgcacgtgga ggactcggac
      241 tcggacgcgc cgccgtctcc cgccggctcc gagggcctgg gccgcgcggg ggtcgcggtg
      301 gggggcgccc ggggcgaccc ggcggaggcg gcggacgagc gcttcccggc ctgcatccgc
      361 gacgccgtgt cgcaggtgct caagggctac gactggagtc tggtgcccat gccggtgcgc
      421 ggcggcggcg gcggcgcgct caaagccaag ccgcatgtga agcggcccat gaacgcattc
      481 atggtgtggg cgcaggcggc gcgccgcaag ctggccgacc agtacccgca cctgcacaac
      541 gccgagctca gcaagacgct gggcaagctg tggcgcttgc tgagcgagag cgagaagcgg
      601 cccttcgtgg aggaggcaga gcgccttcgc gtgcagcaca agaaggacca ccccgactac
      661 aagtaccagc cacggcgcag gaagagcgcc aaagccggcc acagcgactc cgactcgggc
      721 gcggagctgg gaccccaccc tggcggcggt gccgtgtaca aggctgaagc agggcttgga
      781 gatgggcacc accatggcga ccacacaggg cagacccacg ggccgcccac cccgcccacc
      841 acccccaaga cggagctgca gcaggcgggc gccaagccgg agctgaagct ggagggacgc
      901 cggccggtgg acagcgggcg ccagaacatc gacttcagca acgtggacat ctcggagctc
      961 agcagcgagg tcatgggcac catggacgcc ttcgacgtcc acgagttcga ccagtacctg
     1021 cccctgggcg gccccgcccc acccgagccg ggccaggcct atgggggcgc ctacttccac
     1081 gccggggcgt cccccgtgtg ggcccacaag agtgccccgt cggcctccgc gtcgcccacc
     1141 gagacgggtc ccccacggcc gcacatcaag acggagcagc cgagccccgg ccactacggc
     1201 gaccagcccc gaggctcgcc cgactacggt tcctgcagcg gccagtccag cgccaccccg
     1261 gccgcccccg ccggcccctt cgccggctca cagggcgact atggcgacct gcaggcctcc
     1321 agctactatg gtgcctaccc tggctacgca cccggcctct accagtaccc ctgcttccac
     1381 tcgccgcgcc ggccctacgc ctcacccctg ctcaacggcc tggccctgcc gcccgcccac
     1441 agccccacca gtcactggga ccagccggtg tacaccaccc tgaccaggcc ctgagggccc
     1501 agccgcgggg agggactcgc aggcgtcagg gggcagcctt gtcccggccc agtgtgtgtg
     1561 accagggcgg gaggggcccc agtggctgag ctccaagtgc ctgctgaagt ctgcagggaa
     1621 acacgcttgc tgcccgtggc cctcggcctc cagatggcca cacctctgcc gacgacggac
     1681 cagctccctc tcccttctat ctttcttttt gaggtggtgg gattattcca caaagaaggg
     1741 ctgccgtttg gtccctcttc cgtgaggact ggcggcacca gcaccttcgc tttgcatctc
     1801 ggtagaggag aaacggcagc acagcccaag gaccaaagga gggggtggca ggggccttgc
     1861 agggcgctgt gaggtccagg ccggtcttgg cgccgagagc ccctgcactc aaggccacat
     1921 tccctcgaca acggctgcac gggctgtccg ggatccgggg tgtctgtccg cagactggga
     1981 tgagtctact cgagcatctc cgggacctgc ctgtcagatc tgaggtgtct ccttgctggc
     2041 agagtgcgct cacgcgaggg ctggctgtga tgaacacatc tctcttttat ttttatgttt
     2101 ttgataattt ttatttttga agcttaaatg tgtttcttct gaaagctgtt aaagatgtat
     2161 ttatgttctg tgttatttta tctttaatta atgaggtaat tcgggcaaag agtagaattt
     2221 aagacaaaac ggaagctggg aagcttccct tgagggcagg caggaggtgg agttgcagct
     2281 gttggccggc atcacgttgc tcgttgctcg gcttatggga ggccgccctg gagggcccgg
     2341 aggtcccaag gtccctggga ggactgggcc cctcatgcct cgagcttggc aaccgaaaac
     2401 ccgagggagg agaagggacc tgccttgtga catctctgat caggttgggg tgccccagca
     2461 cccagtacca gtttggggtt tgggaagcag gactccgtcc ctgtccccga ctgtgccacg
     2521 tggtaggaca cataggacac aggaattcct gggtccttgc ccatgactgt gccatgtggt
     2581 aggacacagg acacaggaat tcctggaaag tggtggcttc agaagtgatc ttggctcgca
     2641 ggcaccagtg ccacctacca agctgtgaaa ctaaaccttc tccactaaac gtcgttaggg
     2701 cctcagttct agacgagtca tacctgattc acctgcactg cttcccctgt gtgctgagca
     2761 tagagcatac aatagcgcct acttcacgga aacttgtgcc tttaaacttt gtaaacttaa
     2821 acacagccga gaagttgctt ctttgtactt tttctacttt tcctactttt ttgtagaaaa
     2881 aaaagataat gcctctgctt ctatttctct gggggtgggg gtgggggccg ggagccgtcg
     2941 cagacccgtt tcatgcagcg tctcccttgg caccgcgttc ggaggacgca ccctcactcc
     3001 cctgctgcct tcactccttt ctgaccaagc aacgctaact tttgtacaga tcgatttgat
     3061 aaaattaaac aaagtgcttt ttatgga
//
