KCTD13
Function
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission (PubMed:19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome (PubMed:19782033) Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity).
Involvement in disease
The gene represented in this entry may act as a disease modifier for autism and schizophrenia associated with recurrent deletions and duplications of chromosome 16p11.2 region (PubMed:22596160, PubMed:25695269).
Pathway
Protein modification; protein ubiquitination.
Sequence Similarities
Belongs to the BACURD family.
Tissue Specificity
Expressed in a wide variety of tissues.
Cellular localization
- Nucleus
Alternative names
BACURD1, PDIP1, POLDIP1, FKSG86, PP6832, KCTD13, BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1, hBACURD1, BTB/POZ domain-containing protein KCTD13, Polymerase delta-interacting protein 1, TNFAIP1-like protein