LOCUS       NM_178424               3283 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens SRY-box transcription factor 30 (SOX30), transcript
            variant 1, mRNA.
ACCESSION   NM_178424
VERSION     NM_178424.2
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 3283)
  AUTHORS   Liu,Y., Wang,W., Li,Y. and Huang,Y.
  TITLE     SOX30 confers a tumor suppressive effect in acute myeloid leukemia
            through inactivation of Wnt/beta-catenin signaling
  JOURNAL   Mol Cell Probes 52, 101578 (2020)
   PUBMED   32334007
  REMARK    GeneRIF: SOX30 confers a tumor suppressive effect in acute myeloid
            leukemia through inactivation of Wnt/beta-catenin signaling.
REFERENCE   2  (bases 1 to 3283)
  AUTHORS   Peng,H., Luo,Y., Wu,J. and Yin,W.
  TITLE     Correlation of sex-determining region Y-box 30 with tumor
            characteristics and its prognostic value in breast cancer
  JOURNAL   J Clin Lab Anal 34 (6), e23232 (2020)
   PUBMED   32157740
  REMARK    GeneRIF: Correlation of sex-determining region Y-box 30 with tumor
            characteristics and its prognostic value in breast cancer.
REFERENCE   3  (bases 1 to 3283)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3283)
  AUTHORS   Fu,Q., Sun,Z., Yang,F., Mao,T., Gao,Y. and Wang,H.
  TITLE     SOX30, a target gene of miR-653-5p, represses the proliferation and
            invasion of prostate cancer cells through inhibition of
            Wnt/beta-catenin signaling
  JOURNAL   Cell Mol Biol Lett 24, 71 (2019)
   PUBMED   31889959
  REMARK    GeneRIF: SOX30 upregulation due to miR-653-5p inhibition restricted
            the proliferation and invasion of prostate cancer cells, and this
            was associated with Wnt/ CTNNB1 signaling suppression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3283)
  AUTHORS   Han,F., Liu,W., Jiang,X., Shi,X., Yin,L., Ao,L., Cui,Z., Li,Y.,
            Huang,C., Cao,J. and Liu,J.
  TITLE     SOX30, a novel epigenetic silenced tumor suppressor, promotes tumor
            cell apoptosis by transcriptional activating p53 in lung cancer
  JOURNAL   Oncogene 34 (33), 4391-4402 (2015)
   PUBMED   25435374
  REMARK    GeneRIF: Blockade of p53 attenuates the tumor inhibition of SOX30.
REFERENCE   6  (bases 1 to 3283)
  AUTHORS   Fan,B.J., Wang,D.Y., Tham,C.C., Lam,D.S. and Pang,C.P.
  TITLE     Gene expression profiles of human trabecular meshwork cells induced
            by triamcinolone and dexamethasone
  JOURNAL   Invest Ophthalmol Vis Sci 49 (5), 1886-1897 (2008)
   PUBMED   18436822
REFERENCE   7  (bases 1 to 3283)
  AUTHORS   Assou,S., Anahory,T., Pantesco,V., Le Carrour,T., Pellestor,F.,
            Klein,B., Reyftmann,L., Dechaud,H., De Vos,J. and Hamamah,S.
  TITLE     The human cumulus--oocyte complex gene-expression profile
  JOURNAL   Hum Reprod 21 (7), 1705-1719 (2006)
   PUBMED   16571642
REFERENCE   8  (bases 1 to 3283)
  AUTHORS   Koopman,P., Schepers,G., Brenner,S. and Venkatesh,B.
  TITLE     Origin and diversity of the SOX transcription factor gene family:
            genome-wide analysis in Fugu rubripes
  JOURNAL   Gene 328, 177-186 (2004)
   PUBMED   15019997
REFERENCE   9  (bases 1 to 3283)
  AUTHORS   Bullejos,M., Diaz de la Guardia,R., Barragan,M.J. and Sanchez,A.
  TITLE     HMG-box sequences from microbats homologous to the human SOX30
            HMG-box
  JOURNAL   Genetica 110 (2), 157-162 (2000)
   PUBMED   11678506
REFERENCE   10 (bases 1 to 3283)
  AUTHORS   Osaki,E., Nishina,Y., Inazawa,J., Copeland,N.G., Gilbert,D.J.,
            Jenkins,N.A., Ohsugi,M., Tezuka,T., Yoshida,M. and Semba,K.
  TITLE     Identification of a novel Sry-related gene and its germ
            cell-specific expression
  JOURNAL   Nucleic Acids Res 27 (12), 2503-2510 (1999)
   PUBMED   10359848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008694.6, BC033492.1 and
            AB022083.1.
            
            On Nov 23, 2018 this sequence version replaced NM_178424.1.
            
            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 acts as a transcriptional regulator when
            present in a complex with other proteins. It can activate p53
            transcription to promote tumor cell apoptosis in lung cancer. The
            protein may be involved in the differentiation of developing male
            germ cells. Alternative splicing of this gene results in multiple
            transcript variants. A related pseudogene has been identified on
            chromosome 5. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1, also known as type I)
            represents the longest transcript and encodes the longest isoform
            (a).
            
            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 :: AB022083.1, AK308329.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265007.11/ ENSP00000265007.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AC008694.6         97526-97543         c
            19-74               BC033492.1         1-56
            75-3283             AB022083.1         10-3218
FEATURES             Location/Qualifiers
     source          1..3283
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     gene            1..3283
                     /gene="SOX30"
                     /note="SRY-box transcription factor 30"
                     /db_xref="GeneID:11063"
                     /db_xref="HGNC:HGNC:30635"
                     /db_xref="MIM:606698"
     exon            1..1327
                     /gene="SOX30"
                     /inference="alignment:Splign:2.1.0"
     CDS             361..2622
                     /gene="SOX30"
                     /note="isoform a is encoded by transcript variant 1; Sox30
                     protein type II; transcription factor SOX-30; SRY (sex
                     determining region Y)-box 30; SRY-box 30"
                     /codon_start=1
                     /product="transcription factor SOX-30 isoform a"
                     /protein_id="NP_848511.1"
                     /db_xref="CCDS:CCDS4339.1"
                     /db_xref="GeneID:11063"
                     /db_xref="HGNC:HGNC:30635"
                     /db_xref="MIM:606698"
                     /translation="MERARPEPPPQPRPLRPAPPPLPVEGTSFWAAAMEPPPSSPTLS
                     AAASATLASSCGEAVASGLQPAVRRLLQVKPEQVLLLPQPQAQNEEAAASSAQARLLQ
                     FRPDLRLLQPPTASDGATSRPELHPVQPLALHVKAKKQKLGPSLDQSVGPRGAVETGP
                     RASRVVKLEGPGPALGYFRGDEKGKLEAEEVMRDSMQGGAGKSPAAIREGVIKTEEPE
                     RLLEDCRLGAEPASNGLVHGSAEVILAPTSGAFGPHQQDLRIPLTLHTVPPGARIQFQ
                     GAPPSELIRLTKVPLTPVPTKMQSLLEPSVKIETKDVPLTVLPSDAGIPDTPFSKDRN
                     GHVKRPMNAFMVWARIHRPALAKANPAANNAEISVQLGLEWNKLSEEQKKPYYDEAQK
                     IKEKHREEFPGWVYQPRPGKRKRFPLSVSNVFSGTTQNIISTNPTTVYPYRSPTYSVV
                     IPSLQNPITHPVGETSPAIQLPTPAVQSPSPVTLFQPSVSSAAQVAVQDPSLPVYPAL
                     PPQRFTGPSQTDTHQLHSEATHTVKQPTPVSLESANRISSSASTAHARFATSTIQPPR
                     EYSSVSPCPRSAPIPQASPIPHPHVYQPPPLGHPATLFGTPPRFSFHHPYFLPGPHYF
                     PSSTCPYSRPPFGYGNFPSSMPECLSYYEDRYPKHEGIFSTLNRDYSFRDYSSECTHS
                     ENSRSCENMNGTSYYNSHSHSGEENLNPVPQLDIGTLENVFTAPTSTPSSIQQVNVTD
                     SDEEEEEKVLRDL"
     exon            1328..1567
                     /gene="SOX30"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1747
                     /gene="SOX30"
                     /inference="alignment:Splign:2.1.0"
     exon            1748..2240
                     /gene="SOX30"
                     /inference="alignment:Splign:2.1.0"
     exon            2241..3283
                     /gene="SOX30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2646..2651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX30"
                     /note="hexamer: AATAAA"
     polyA_site      2667
                     /gene="SOX30"
                     /note="major polyA site"
     regulatory      2769..2774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX30"
                     /note="hexamer: CATAAA"
     polyA_site      2790
                     /gene="SOX30"
     regulatory      3262..3267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX30"
                     /note="hexamer: AATAAA"
     polyA_site      3283
                     /gene="SOX30"
ORIGIN      
        1 attgtcgcag ctccgggtgg gggagggatg actaaagaca acggctgtaa gagaactcca
       61 caagagagtc agaacgaaaa tgtgcaacaa gtgcggcggc tcctaccatg gcaggtgatt
      121 cgaggactca gcacgaggcg agagtaggga ccaggaagag ccggaaaacc cgcctgtgat
      181 tggccgtcca cgggtatcgg tcgttgtgat tgggtgaggc ccagacagac agctgcgttt
      241 tgaaccgcgt agggttctgg gtagcaaagg ccttgcaagg ctcttaaccg aaagggggag
      301 ggggaaggtc gccaacaaac ggctgagctc acaatcctgg ccggggcgtc cccctccccc
      361 atggagagag ccagacccga gccgccgcct cagccgcgcc cgttgcgtcc cgctccgccc
      421 ccgctgccgg tcgagggcac ctccttttgg gcagcagcca tggagccccc tccgtcgtct
      481 cccacactga gcgcggcagc cagtgcgacc ttggcctcgt cgtgcgggga ggcagtggcg
      541 tccggcttac agcccgcggt gcggcggctg ctgcaggtga agccagagca ggtgttgctg
      601 ctaccacagc ctcaggccca gaacgaggaa gccgctgcct cgtccgcgca ggcgcggctg
      661 ttgcagttca ggcccgacct gcggctcctg cagccgccga cagcgtcaga cggcgccacc
      721 tccaggcccg agttgcaccc ggtgcagccc ctggcgctgc atgtcaaggc caagaagcag
      781 aagctggggc ccagcctgga tcagtcagtg gggcctcgag gggccgtcga aaccggtcct
      841 agagcctcca gggtggtcaa gttggaaggc cccgggccgg ccctcggcta cttccgaggg
      901 gacgagaagg gcaagctgga ggcggaggag gtcatgagag actcgatgca aggcggggca
      961 ggcaaaagcc cggcagccat ccgagaaggt gtgatcaaaa cggaggaacc cgagagactc
     1021 ctcgaggact gcaggctcgg cgcggagccc gcgtccaatg gcctggttca tggcagcgcg
     1081 gaggtcatct tggccccaac gtccggtgcc tttgggccgc accagcaaga ccttaggatc
     1141 cctttgacgc tccacacggt cccccctggg gcccggatcc agtttcaggg agctccgcct
     1201 tcagagctga taagattgac caaggtcccc ctgacaccag tgcctactaa aatgcagtcc
     1261 ctactggagc cttctgtaaa aattgaaacc aaagatgtcc cgctcaccgt gttgccctca
     1321 gatgcaggca taccagatac tcccttcagt aaggacagaa atggtcatgt gaagcgaccc
     1381 atgaacgcat ttatggtttg ggcaaggatc caccgaccag cactagccaa agctaaccca
     1441 gcagccaaca atgcagaaat cagtgtccag cttgggttag agtggaacaa acttagtgaa
     1501 gaacaaaaga aaccctatta cgatgaagca caaaagatta aggaaaagca cagagaggaa
     1561 tttcctggtt gggtttatca gcctcgtcca gggaagcgaa aacgattccc tctaagtgtt
     1621 tccaatgtat tttctggtac cacacagaat atcatctcta caaatcctac aacagtttat
     1681 ccttaccgct cacctacgta ctctgtggta attcccagcc tacagaatcc catcactcat
     1741 ccagttggtg aaacctcacc tgctatccag ctgcccacac ctgcagtcca gagcccaagc
     1801 cctgtcacac ttttccagcc cagcgtctcc agtgctgctc aggtggctgt ccaggatcca
     1861 agtctacctg tctatccagc actcccaccc caacgcttta ctgggccttc ccaaacagac
     1921 actcatcagc tgcattctga agccactcac actgtgaagc aacccactcc tgtctctcta
     1981 gagagcgcca acaggatttc aagtagtgca agtactgccc atgccagatt tgcaacttcg
     2041 accatccaac ctcctaggga gtattccagc gtttcccctt gtcccagaag tgctccaatc
     2101 ccccaggctt ctcccattcc acacccacat gtctaccagc cccctcccct tggccatcca
     2161 gccacactgt tcgggacacc accaagattc tcttttcatc acccttactt cctacccgga
     2221 cctcactact tcccatcaag tacatgccct tacagtcggc ctccctttgg ctatggaaat
     2281 tttccgagtt caatgccaga atgccttagt tattatgaag acaggtaccc aaaacatgag
     2341 ggtatctttt caactttaaa tagagactat tcttttagag actactcaag tgaatgcaca
     2401 cacagtgaaa attctcggag ttgtgagaac atgaatggaa cttcttacta taacagtcat
     2461 agccacagtg gggaagaaaa cttaaaccct gtgcctcagc tggacattgg aaccttggag
     2521 aatgtcttca cagccccgac atcaactcct tctagcatcc agcaagtcaa tgtcaccgac
     2581 agtgatgagg aggaagaaga aaaagtgctc agggatttat aattttaaaa caaatatgca
     2641 cagaaaataa acatttctta aaatatattc tgggtcagtt ggtatgagaa aaaaaaaagc
     2701 ctagaattct ttgttgaaag ttttcagtcg tgatttgagg agttaaaacc aaatgcaatt
     2761 tatgtcttca taaaattttg attagtgaaa ctagagtctg gatgtttcat tgtaggaata
     2821 tttaagttat taagtagttt aattttaatg gctgaaattt gcatcaacat gtattattat
     2881 tactttatcc tggaacatgc aaaatactga agcctcacag ttgtatgtga ggggaaaggg
     2941 gaaataaatc tagcatagtg tgatttttat tttatctcag gatacatttt ttaaatgatt
     3001 ttttgtttgc tttttatgta atacttatgg atgttgtcaa tttttgatgt aacattttga
     3061 aagtattttg acaactccta gtgaacttgg acttggttgc taaatttaac ttacactaat
     3121 aaccaattat aagttccaaa tgtgttttaa tggcacctgg gtgattcttc agctaaattt
     3181 agtcatttct gtttctaaat atttttatca ttttaaaata ttttttttcc atttggcata
     3241 catcgttctt tgttgtaatt aaataaacat agataaaatt gtt
//
