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    SRY sex determining region Y [ Homo sapiens (human) ]

    Gene ID: 6736, updated on 22-Jul-2017
    Official Symbol
    SRYprovided by HGNC
    Official Full Name
    sex determining region Yprovided by HGNC
    Primary source
    HGNC:HGNC:11311
    See related
    Ensembl:ENSG00000184895 MIM:480000; Vega:OTTHUMG00000036084
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TDF; TDY; SRXX1; SRXY1
    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]
    Orthologs
    Location:
    Yp11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) Y NC_000024.10 (2786855..2787741, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (2654896..2655782, complement)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene Xg pseudogene, Y-linked 2 Neighboring gene RNA, U6 small nuclear 1334, pseudogene Neighboring gene ribonuclease H2 subunit C pseudogene 1 Neighboring gene TOMM22 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

    ClinGen Genome Curation PagePubMed
    • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
      Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
    • Regulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Androgen receptor activity, organism-specific biosystem
      Regulation of Androgen receptor activity
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    male sex determination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of male gonad development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    sex differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    sex-determining region Y protein
    Names
    essential protein for sex determination in human males
    sex-determining region on Y
    testis-determining factor on Y
    truncated sex-determining region Y protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011751.1 RefSeqGene

      Range
      5011..5897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003140.2NP_003131.1  sex-determining region Y protein

      See identical proteins and their annotated locations for NP_003131.1

      Status: REVIEWED

      Source sequence(s)
      AC006040, L10101
      Consensus CDS
      CCDS14772.1
      UniProtKB/Swiss-Prot
      Q05066
      UniProtKB/TrEMBL
      A7WPU8
      Related
      ENSP00000372547.1, OTTHUMP00000034324, ENST00000383070.1, OTTHUMT00000087931
      Conserved Domains (2) summary
      cd01388
      Location:59130
      SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
      pfam12336
      Location:129198
      SOXp; SOX transcription factor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p7 Primary Assembly

      Range
      2786855..2787741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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