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

Gene ID: 6736, updated on 2-Oct-2018

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; 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

Genomic context

See SRY in Genome Data Viewer
Location:
Yp11.2
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male sex determination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male sex determination NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of male gonad development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sex differentiation 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
 
nuclear transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
truncated sex-determining region Y protein

NCBI Reference Sequences (RefSeq)

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p12 Primary Assembly

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