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sex-determining region Y protein; testis-determining factor (SRY, TDF)

Function: - transcriptional regulator which controls a genetic switch in male development - necessary & sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (putative) - in male adult brain, role in maintenance of motor functions of dopaminergic neurons - role in different aspects of gene regulation including promoter activation or repression (putative) - facilitates 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' interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 & WT1 - interaction with EP300 modulates its DNA-binding activity - interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form - interaction with PARP1 impairs its DNA-binding activity (putative) - phosphorylated on Ser by PKA; phosphorylation by PKA enhances its DNA-binding activity & stimulates transcription repression - acetylation of Lys-136 contributes to its nuclear localization & enhances its interaction with KPNB1 - deacetylated by HDAC3 - poly-ADP-ribosylated by PARP1; ADP-ribosylation reduces its DNA-binding activity Structure: - belongs to the SRY family - contains 1 HMG box DNA-binding domain Compartment: - nuclear speckle, cytoplasm - colocalizes with SOX6 in nuclear speckles - colocalizes with CAML in the nucleus - colocalizes in the nucleus with ZNF208 isoform KRAB-O & tyrosine hydroxylase (putative) Pathology: - defects in SRY are a cause of gonadal dysgenesis XY female type - defects in SRY are found in Turner syndrome - defects in SRY are a cause of true hermaphroditism Comparative biology: - DNA binding & bending properties of the HMG domains of human & mouse SRY differ form each other - human SRY shows more extensive minor groove contacts with DNA & a lower specificity of sequence recognition than mouse SRY

Related

SRY gene deletion SRY gene mutation

General

DNA-binding protein transcription factor (TF)

Properties

SIZE: entity length = 204 aa MW = 24 kD COMPARTMENT: cytoplasm cell nucleus MOTIF: KPNB1 interaction {59-136} MOTIF: HMG box SITE: 60-128 nuclear localization {61-77} sufficient for interaction with EP300 {107-139} MOTIF: nuclear localization {130-136} ZNF208-KRAB-O interaction {138-155} SLC9A3R2 interaction {198-204}

Database Correlations

OMIM 480000 MORBIDMAP 480000 UniProt Q05066 Pfam PF00505 Kegg hsa:6736

References

  1. UniProt :accession Q05066
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SRY
  3. Protein Spotlight; The tenuous nature of sex Issue 80 of march 2007 http://www.expasy.org/spotlight/back_issues/sptlt080.shtml
  4. Wikipedia; Note: SRY entry http://en.wikipedia.org/wiki/SRY