NP_003131.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
23,884 Da
NCBI Official Full Name
sex-determining region Y protein
NCBI Official Synonym Full Names
sex determining region Y
NCBI Protein Information
sex-determining region Y protein; sex-determining region on Y; testis-determining factor on Y; sex determining region Y protein; essential protein for sex determination in human males
UniProt Protein Name
Sex-determining region Y protein
UniProt Synonym Protein Names
Testis-determining factor
UniProt Synonym Gene Names
UniProt Entry Name
SRY_HUMAN
NCBI Summary for SRY
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]
UniProt Comments for SRY
SRY: 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. In male adult brain involved in the maintenance of motor functions of dopaminergic neurons. Involved in different aspects of gene regulation including promoter activation or repression. 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'. Defects in SRY are the cause of 46,XY sex reversal type 1 (SRXY1). 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. 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. Defects in SRY are the cause of 46,XX sex reversal type 1 (SRXX1). A condition in which male gonads develop in a genetic female (female to male sex reversal). Belongs to the SRY family.
Protein type: DNA-binding; Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: Yp11.3
Cellular Component: cytoplasm; nuclear speck; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; calmodulin binding; DNA binding; transcription factor binding
Biological Process: transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; male sex determination; positive regulation of transcription, DNA-dependent; cell differentiation; sex differentiation
Disease: 46,xx Sex Reversal 1; 46,xy Sex Reversal 1
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Products associated with anti-SRY antibody
Pathways associated with anti-SRY antibody
Diseases associated with anti-SRY antibody
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