LOCUS       NM_003140                828 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens sex determining region Y (SRY), mRNA.
ACCESSION   NM_003140
VERSION     NM_003140.3
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 828)
  AUTHORS   Houzelstein,D., Eozenou,C., Lagos,C.F., Elzaiat,M.,
            Bignon-Topalovic,J., Gonzalez,I., Laville,V., Schlick,L.,
            Wankanit,S., Madon,P., Kirtane,J., Athalye,A., Buonocore,F.,
            Bigou,S., Conway,G.S., Bohl,D., Achermann,J.C., Bashamboo,A. and
            McElreavey,K.
  TITLE     A conserved NR5A1-responsive enhancer regulates SRY in
            testis-determination
  JOURNAL   Nat Commun 15 (1), 2796 (2024)
   PUBMED   38555298
  REMARK    GeneRIF: A conserved NR5A1-responsive enhancer regulates SRY in
            testis-determination.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 828)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a disease-related upstream ORF in
            this gene, and shows that it functions to reduce protein levels by
            100%.
REFERENCE   3  (bases 1 to 828)
  AUTHORS   Sekido,R. and Lovell-Badge,R.
  TITLE     Sex determination and SRY: down to a wink and a nudge?
  JOURNAL   Trends Genet 25 (1), 19-29 (2009)
   PUBMED   19027189
  REMARK    Review article
REFERENCE   4  (bases 1 to 828)
  AUTHORS   Clepet,C., Schafer,A.J., Sinclair,A.H., Palmer,M.S.,
            Lovell-Badge,R. and Goodfellow,P.N.
  TITLE     The human SRY transcript
  JOURNAL   Hum Mol Genet 2 (12), 2007-2012 (1993)
   PUBMED   8111368
REFERENCE   5  (bases 1 to 828)
  AUTHORS   Behlke,M.A., Bogan,J.S., Beer-Romero,P. and Page,D.C.
  TITLE     Evidence that the SRY protein is encoded by a single exon on the
            human Y chromosome
  JOURNAL   Genomics 17 (3), 736-739 (1993)
   PUBMED   8244390
REFERENCE   6  (bases 1 to 828)
  AUTHORS   Su,H. and Lau,Y.F.
  TITLE     Identification of the transcriptional unit, structural
            organization, and promoter sequence of the human sex-determining
            region Y (SRY) gene, using a reverse genetic approach
  JOURNAL   Am J Hum Genet 52 (1), 24-38 (1993)
   PUBMED   8434602
REFERENCE   7  (bases 1 to 828)
  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
REFERENCE   8  (bases 1 to 828)
  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   9  (bases 1 to 828)
  AUTHORS   Hawkins,J.R., Taylor,A., Berta,P., Levilliers,J., Van der Auwera,B.
            and Goodfellow,P.N.
  TITLE     Mutational analysis of SRY: nonsense and missense mutations in XY
            sex reversal
  JOURNAL   Hum Genet 88 (4), 471-474 (1992)
   PUBMED   1339396
REFERENCE   10 (bases 1 to 828)
  AUTHORS   Sinclair,A.H., Berta,P., Palmer,M.S., Hawkins,J.R., Griffiths,B.L.,
            Smith,M.J., Foster,J.W., Frischauf,A.M., Lovell-Badge,R. and
            Goodfellow,P.N.
  TITLE     A gene from the human sex-determining region encodes a protein with
            homology to a conserved DNA-binding motif
  JOURNAL   Nature 346 (6281), 240-244 (1990)
   PUBMED   1695712
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L10101.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_003140.2.
            
            Summary: This intronless gene encodes a transcription factor that
            is a member of the high mobility group (HMG)-box family of
            DNA-binding proteins. This protein is the testis-determining factor
            (TDF), which initiates male sex determination. Mutations in this
            gene give rise to XY females with gonadal dysgenesis (Swyer
            syndrome); translocation of part of the Y chromosome containing
            this gene to the X chromosome causes XX male syndrome. [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 :: L10101.1, BC074923.2 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383070.2/ ENSP00000372547.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-828               L10101.1           18-845
FEATURES             Location/Qualifiers
     source          1..828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     gene            1..828
                     /gene="SRY"
                     /gene_synonym="SRXX1; SRXY1; TDF; TDY"
                     /note="sex determining region Y"
                     /db_xref="GeneID:6736"
                     /db_xref="HGNC:HGNC:11311"
                     /db_xref="MIM:480000"
     exon            1..828
                     /gene="SRY"
                     /gene_synonym="SRXX1; SRXY1; TDF; TDY"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..694
                     /gene="SRY"
                     /gene_synonym="SRXX1; SRXY1; TDF; TDY"
                     /note="essential protein for sex determination in human
                     males; sex-determining region on Y; testis-determining
                     factor on Y"
                     /codon_start=1
                     /product="sex-determining region Y protein"
                     /protein_id="NP_003131.1"
                     /db_xref="CCDS:CCDS14772.1"
                     /db_xref="GeneID:6736"
                     /db_xref="HGNC:HGNC:11311"
                     /db_xref="MIM:480000"
                     /translation="MQSYASAMLSVFNSDDYSPAVQENIPALRRSSSFLCTESCNSKY
                     QCETGENSKGNVQDRVKRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQWKMLT
                     EAEKWPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPADPASVLCSEVQLD
                     NRLYRDDCTKATHSRMEHQLGHLPPINAASSPQQRDRYSHWTKL"
     regulatory      807..812
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRY"
                     /gene_synonym="SRXX1; SRXY1; TDF; TDY"
                     /note="hexamer: AATAAA"
     polyA_site      828
                     /gene="SRY"
                     /gene_synonym="SRXX1; SRXY1; TDF; TDY"
                     /note="major polyA site"
ORIGIN      
        1 agaagtgagt tttggatagt aaaataagtt tcgaactctg gcacctttca attttgtcgc
       61 actctccttg tttttgacaa tgcaatcata tgcttctgct atgttaagcg tattcaacag
      121 cgatgattac agtccagctg tgcaagagaa tattcccgct ctccggagaa gctcttcctt
      181 cctttgcact gaaagctgta actctaagta tcagtgtgaa acgggagaaa acagtaaagg
      241 caacgtccag gatagagtga agcgacccat gaacgcattc atcgtgtggt ctcgcgatca
      301 gaggcgcaag atggctctag agaatcccag aatgcgaaac tcagagatca gcaagcagct
      361 gggataccag tggaaaatgc ttactgaagc cgaaaaatgg ccattcttcc aggaggcaca
      421 gaaattacag gccatgcaca gagagaaata cccgaattat aagtatcgac ctcgtcggaa
      481 ggcgaagatg ctgccgaaga attgcagttt gcttcccgca gatcccgctt cggtactctg
      541 cagcgaagtg caactggaca acaggttgta cagggatgac tgtacgaaag ccacacactc
      601 aagaatggag caccagctag gccacttacc gcccatcaac gcagccagct caccgcagca
      661 acgggaccgc tacagccact ggacaaagct gtaggacaat cgggtaacat tggctacaaa
      721 gacctaccta gatgctcctt tttacgataa cttacagccc tcactttctt atgtttagtt
      781 tcaatattgt tttcttttct ctggctaata aaggccttat tcatttca
//
