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.

SRY

Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911).
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 (PubMed:16996051, PubMed:16414182).
Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897).
Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:1425584, PubMed:8265659, PubMed:8159753, PubMed:11563911, PubMed:15170344).
SRY HMG box recognizes DNA by partial intercalation in the minor groove and promotes DNA bending (PubMed:1425584, PubMed:8265659, PubMed:8159753, PubMed:11563911, PubMed:15170344, PubMed:16762365).
Also involved in pre-mRNA splicing (PubMed:11818535).
In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity).

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process male sex determinationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of gene expressionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of male gonad developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sex differentiationIEA:UniProtKB-KW

Nucleus speckle
Cytoplasm
Nucleus
Acetylation contributes to its nuclear localization and deacetylation by HDAC3 induces a cytoplasmic delocalization (PubMed:15297880).
Colocalizes with SOX6 in speckles (PubMed:11818535).
Colocalizes with CAML in the nucleus (PubMed:15746192).
Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity).
Nuclear import is facilitated by XPO4, a protein that usually acts as a nuclear export signal receptor (PubMed:19349578).

46,XY sex reversal 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.
46,XX sex reversal 1 (SRXX1):
A condition in which male gonads develop in a genetic female (female to male sex reversal).

Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression.
Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3.
Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.