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

    Gene ID: 6736, updated on 18-Sep-2024

    Summary

    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; AllianceGenome:HGNC:11311
    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
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    Genomic context

    See SRY in Genome Data Viewer
    Location:
    Yp11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (2786855..2787682, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (2463695..2464522, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (2654896..2655723, complement)

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

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-12-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-22)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in male sex determination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of male gonad development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sex differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5070..5897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003140.3NP_003131.1  sex-determining region Y protein

      See identical proteins and their annotated locations for NP_003131.1

      Status: REVIEWED

      Source sequence(s)
      L10101
      Consensus CDS
      CCDS14772.1
      UniProtKB/Swiss-Prot
      Q05066
      UniProtKB/TrEMBL
      A0A411ELD0, A0A411ELD1, A0A411ELD8, A0A411ELE5, A0A411ELF4, A0A411ELN9, A0A411ELP6, A0A411ELP9, A0A411ELQ6, A0A411ELR1, A0A411ELS2, A7WPU7, A7WPU8, A7WPU9, A7WPV0, A7WPV2, D1H0M5, G0Z068, G0Z071, H9U921, H9U923, U5XK65, U5XN77
      Related
      ENSP00000372547.1, ENST00000383070.2
      Conserved Domains (1) summary
      cd01388
      Location:59130
      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 vertebrates, and ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      2786855..2787682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      2463695..2464522 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)