Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312, PubMed:27561354, PubMed:35219381). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation (PubMed:27561354, PubMed:35219381). Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354, PubMed:35219381).
Intellectual developmental disorder, X-linked 103
XLID103
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations.
None
The disease may be caused by variants affecting the gene represented in this entry.
Protein modification; protein ubiquitination.
KIAA1677, KLHL15, Kelch-like protein 15
Proteins
69775Da
We found 1 product in 1 category