InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SRY

Summary

InnateDB Protein

IDBP-3.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SRY

Protein Name

sex determining region Y

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000372547

InnateDB Gene

IDBG-1 (SRY)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator that controls a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Promotes DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3'. {ECO:0000250, ECO:0000269PubMed:11563911, ECO:0000269PubMed:11818535, ECO:0000269PubMed:15170344, ECO:0000269PubMed:16762365}.

Subcellular Localization

Nucleus speckle. Cytoplasm. Note=Colocalizes with SOX6 in speckles. Colocalizes with CAML in the nucleus. Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity). {ECO:0000250}.

Disease Associations

46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. {ECO:0000269PubMed:10670762, ECO:0000269PubMed:10721678, ECO:0000269PubMed:10843173, ECO:0000269PubMed:10852465, ECO:0000269PubMed:12107262, ECO:0000269PubMed:12793612, ECO:0000269PubMed:1339396, ECO:0000269PubMed:1415266, ECO:0000269PubMed:1483689, ECO:0000269PubMed:1570829, ECO:0000269PubMed:17063144, ECO:0000269PubMed:2247149, ECO:0000269PubMed:7717397, ECO:0000269PubMed:7776083, ECO:0000269PubMed:7985018, ECO:0000269PubMed:8019555, ECO:0000269PubMed:8105086, ECO:0000269PubMed:8353496, ECO:0000269PubMed:8447323, ECO:0000269PubMed:9450909, ECO:0000269PubMed:9521592, ECO:0000269PubMed:9678356, ECO:0000269Ref.41, ECO:0000269Ref.47}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A 45,X chromosomal aberration involving SRY is found in Turner syndrome, a disease characterized by gonadal dysgenesis with short stature, "streak gonads", variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female.46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269PubMed:10602113, ECO:0000269PubMed:9652903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005516	calmodulin binding
GO:0008134	transcription factor binding

Biological Process

GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0007548	sex differentiation
GO:0030154	cell differentiation
GO:0030238	male sex determination
GO:0045893	positive regulation of transcription, DNA-templated
GO:2000020	positive regulation of male gonad development