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Essential protein for sex determination in human males
Sex determining region on Y
Sex determining region protein
Sex determining region Y
Sex-determining region Y protein
Testis determining factor
Testis Determining Factor on Y
Transcription factor Sox-21-B
功能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'.
疾病相关Defects in SRY are a cause of gonadal dysgenesis XY female type (GDXY) [MIM:400044]; also known as complete SRY-related 46,XY gonadal dysgenesis or 'XY females' or Swyer syndrome. Patients are found to have a 46,XY karyotype. They suffer 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. In contrast, subjects with 46,XY partial gonadal dysgenesis have ambiguous genitalia, a mix of Muellerian and Wolffian structures, and dysgenic gonads. 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. Defects in SRY are a cause of true hermaphroditism (TRUHER) [MIM:400045]; also known as complete SRY-positive 46,XX gonadal dysgenesis. A true hermaphrodite must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively. It is a genetically heterogeneous condition. The genotype of most affected individuals is 46,XX, but many have 46,XY or a mosaic of 46,XX/46,XY. True hermaphroditism can be caused also by chromosomal translocation.
序列相似性Belongs to the SRY family. Contains 1 HMG box DNA-binding domain.
结构域DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than mouse SRY.
翻译后修饰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.
细胞定位Nucleus speckle. Cytoplasm. Colocalizes with SOX6 in speckles. Colocalizes with CAML in the nucleus. Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH).