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

Gene ID: 6736, updated on 3-Oct-2020

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
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (2786855..2787682, 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 gene expression IDA
Inferred from Direct Assay
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 chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
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 

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
    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
    A7WPU8
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

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