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Protein Page:
SRY (human)

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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: Yp11.3
Cellular Component: nucleoplasm; nucleus
Molecular Function: DNA binding; RNA polymerase II transcription factor activity, enhancer binding; transcription factor binding
Biological Process: positive regulation of transcription, DNA-dependent
Disease: 46,xx Sex Reversal 1; 46,xy Sex Reversal 1
Reference #:  Q05066 (UniProtKB)
Alt. Names/Synonyms: essential protein for sex determination in human males; sex determining region protein; sex determining region Y; sex-determining region on Y; Sex-determining region Y protein; SRY; TDF; TDY; Testis-determining factor
Gene Symbols: SRY
Molecular weight: 23,884 Da
Basal Isoelectric point: 9.55  Predict pI for various phosphorylation states
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