LOCUS       NM_004189               2020 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens SRY-box transcription factor 14 (SOX14), mRNA.
ACCESSION   NM_004189
VERSION     NM_004189.4
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 2020)
  AUTHORS   Zhao,J., Cao,H., Zhang,W., Fan,Y., Shi,S. and Wang,R.
  TITLE     SOX14 hypermethylation as a tumour biomarker in cervical cancer
  JOURNAL   BMC Cancer 21 (1), 675 (2021)
   PUBMED   34098886
  REMARK    GeneRIF: SOX14 hypermethylation as a tumour biomarker in cervical
            cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2020)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2020)
  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 2020)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2020)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 2020)
  AUTHORS   Hargrave,M., James,K., Nield,K., Toomes,C., Georgas,K.,
            Sullivan,T., Verzijl,H.T., Oley,C.A., Little,M., De Jonghe,P.,
            Kwon,J.M., Kremer,H., Dixon,M.J., Timmerman,V., Yamada,T. and
            Koopman,P.
  TITLE     Fine mapping of the neurally expressed gene SOX14 to human 3q23,
            relative to three congenital diseases
  JOURNAL   Hum Genet 106 (4), 432-439 (2000)
   PUBMED   10830911
REFERENCE   7  (bases 1 to 2020)
  AUTHORS   Wilmore,H.P., Smith,M.J., Wilcox,S.A., Bell,K.M. and Sinclair,A.H.
  TITLE     SOX14 is a candidate gene for limb defects associated with BPES and
            Mobius syndrome
  JOURNAL   Hum Genet 106 (3), 269-276 (2000)
   PUBMED   10798354
REFERENCE   8  (bases 1 to 2020)
  AUTHORS   Malas,S., Duthie,S., Deloukas,P. and Episkopou,V.
  TITLE     The isolation and high-resolution chromosomal mapping of human
            SOX14 and SOX21; two members of the SOX gene family related to
            SOX1, SOX2, and SOX3
  JOURNAL   Mamm Genome 10 (9), 934-937 (1999)
   PUBMED   10441749
REFERENCE   9  (bases 1 to 2020)
  AUTHORS   Cremazy,F., Soullier,S., Berta,P. and Jay,P.
  TITLE     Further complexity of the human SOX gene family revealed by the
            combined use of highly degenerate primers and nested PCR
  JOURNAL   FEBS Lett 438 (3), 311-314 (1998)
   PUBMED   9827568
REFERENCE   10 (bases 1 to 2020)
  AUTHORS   Arsic,N., Rajic,T., Stanojcic,S., Goodfellow,P.N. and Stevanovic,M.
  TITLE     Characterisation and mapping of the human SOX14 gene
  JOURNAL   Cytogenet Cell Genet 83 (1-2), 139-146 (1998)
   PUBMED   9925951
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007159.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004189.3.
            
            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
            regulator after forming a protein complex with other proteins.
            Mutations in this gene are suggested to be responsible for the limb
            defects associated with blepharophimosis, ptosis, epicanthus
            inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            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 is intronless :: AK314127.1, BC106730.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306087.3/ ENSP00000305343.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2020              AC007159.4         72725-74744
FEATURES             Location/Qualifiers
     source          1..2020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..2020
                     /gene="SOX14"
                     /gene_synonym="SOX28"
                     /note="SRY-box transcription factor 14"
                     /db_xref="GeneID:8403"
                     /db_xref="HGNC:HGNC:11193"
                     /db_xref="MIM:604747"
     exon            1..2020
                     /gene="SOX14"
                     /gene_synonym="SOX28"
                     /inference="alignment:Splign:2.1.0"
     CDS             471..1193
                     /gene="SOX14"
                     /gene_synonym="SOX28"
                     /note="HMG box transcription factor SOX-14; SRY (sex
                     determining region Y)-box 14; SRY-box 14"
                     /codon_start=1
                     /product="transcription factor SOX-14"
                     /protein_id="NP_004180.1"
                     /db_xref="CCDS:CCDS3094.1"
                     /db_xref="GeneID:8403"
                     /db_xref="HGNC:HGNC:11193"
                     /db_xref="MIM:604747"
                     /translation="MSKPSDHIKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGA
                     EWKLLSEAEKRPYIDEAKRLRAQHMKEHPDYKYRPRRKPKNLLKKDRYVFPLPYLGDT
                     DPLKAAGLPVGASDGLLSAPEKARAFLPPASAPYSLLDPAQFSSSAIQKMGEVPHTLA
                     TGALPYASTLGYQNGAFGSLSCPSQHTHTHPSPTNPGYVVPCNCTAWSASTLQPPVAY
                     ILFPGMTKTGIDPYSSAHATAM"
     regulatory      1993..1998
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOX14"
                     /gene_synonym="SOX28"
                     /note="hexamer: AATAAA"
     polyA_site      2020
                     /gene="SOX14"
                     /gene_synonym="SOX28"
                     /note="major polyA site"
ORIGIN      
        1 attctcagcc aggtgcagcg ctaggcgcgg cagctccggg aaagccacgg gaagggggag
       61 ccacgactgg aaacgcaaga ggagagaagg gaactagaga aggcaaaggt ggagaggggg
      121 agaaggagga gcttcttgcc ctggctaaaa aattacctgg ccacttaatc ccggagactc
      181 cgatacttgg gtcccagccc ctggtgcctg aagccccccg gccgatcgcc ctctcctccc
      241 ccgccctttc tgcccccact cgctcccccg gggctgcctg ggcgctggga ctggcatgat
      301 cagctgaact ttgtggggtc agcgcttctc tctggcttcc cctcagcggc gccaaggcga
      361 ggggagcgca gaaccccggc tcaggacgga cagacagacg gccagccgcg cccaggctcg
      421 tctgcagaac ccttgcactc cctaccccca cccacctagc cgccgggacc atgtccaaac
      481 cttcagacca catcaagcgg cccatgaacg ccttcatggt atggtcccgg ggccagcggc
      541 gcaagatggc ccaggaaaac cccaagatgc acaactcgga gatcagcaaa cgcctaggtg
      601 ccgaatggaa gcttctgtcc gaggcagaga agcggccata catcgatgaa gccaagcggc
      661 tacgcgccca gcacatgaag gagcaccctg actacaagta ccgacctcgg cgcaagccca
      721 agaacctgct caagaaggac aggtatgtct tccccttgcc ctacctgggc gacacggacc
      781 cgctcaaggc ggctggcctg cccgtggggg cctccgacgg cctcctgagc gcgcccgaga
      841 aagcccgggc cttcttgccg ccggcctcgg cgccctactc cctgctggac cccgcgcagt
      901 ttagctcgag cgccatccag aagatgggcg aagtgcccca caccttggct accggcgctc
      961 tgccctacgc gtccaccctg ggctaccaga acggcgcctt cggcagcctc agctgcccca
     1021 gccagcacac gcacacgcac ccgtccccca ccaaccctgg ctacgtggtg ccctgtaact
     1081 gtaccgcctg gtctgcctcc accctgcagc cccccgtcgc ctacatcctc ttcccaggca
     1141 tgaccaagac tggcatagac ccttattcgt cagcccacgc tacggccatg taacccccag
     1201 cccggcccgg acctgaggcg tggtctgaaa gccgggtctg caccctgtcc tctgagccta
     1261 gccccggcct gcagacgcct ccggggtcag ccctgccgct gtcccttaca ccacccagac
     1321 ttttcctctc tcttccaggg ggaagggtgg ggcgtcctcc cggacccaag gcgcagacag
     1381 gtaccggaaa cttgcaaacg ttatgtcagc tacacagctg cccctatccc gactctccca
     1441 aaacaaatct ccgactgtac cccctttgga caaaaaagta ggcagttttg ctttatttat
     1501 atccccttca ctctcctcgg ataggctttg gactctgaac tcccagattc tgatattata
     1561 tctacaatat gcatatattt tttccttttg tcccctgaag aaaagagtta gctgtgtctc
     1621 tgtgttttgc catcagacac aactaggagc catttgctct tcatgtatgg gggggaaagg
     1681 cttcaaagtt ttaaattaca gaaagggaaa catttctatt taaaaccatg ctatgatagt
     1741 gtttgcttct ttaaagggaa aacaaaaagg acctacatgg ttatttactt tgtgtaaagc
     1801 agtgcttcta gagatctaag tttactttta gacagaatgt cgggttatga agtcaggaag
     1861 tagaaggtga acaaaaaatt aaaagaacaa aaacaaccta aatggtcata aatgttttga
     1921 cgatgtcttg gaaatgtacc tagaaggatt ttacctcgtt gctctgttca tttgttgaac
     1981 aaagacgttt tgaataaaga caatctgtca ttgtaaaaaa
//
