UniProt functional annotation for Q8WZ19



	UniProt functional annotation for Q8WZ19

UniProt code: Q8WZ19.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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). {ECO:0000250|UniProtKB:Q8BGV7, ECO:0000269|PubMed:19782033}.

Pathway: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:19782033}.

Subunit: Homotetramer; forms a two-fold symmetric tetramer in solution (PubMed:28963344). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344). Component of the BCR(KCTD13) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD13/BACURD1 and RBX1. Interacts with RHOA; with a preference for RhoA-GDP (PubMed:19782033). Interacts with POLD2 and PCNA (PubMed:11593007). Interacts with SPRTN (PubMed:22902628). {ECO:0000269|PubMed:11593007, ECO:0000269|PubMed:19782033, ECO:0000269|PubMed:22902628, ECO:0000269|PubMed:28963344}.

Subcellular location: Nucleus {ECO:0000269|PubMed:11593007}.

Tissue specificity: Expressed in a wide variety of tissues. {ECO:0000269|PubMed:11593007}.

Induction: By TNF and IL6/interleukin-6. {ECO:0000269|PubMed:11593007}.

Disease: Note=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). {ECO:0000269|PubMed:22596160, ECO:0000269|PubMed:25695269}.

Similarity: Belongs to the BACURD family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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). {ECO:0000250\|UniProtKB:Q8BGV7, ECO:0000269\|PubMed:19782033}.


Pathway:		Protein modification; protein ubiquitination. {ECO:0000269\|PubMed:19782033}.
Subunit:		Homotetramer; forms a two-fold symmetric tetramer in solution (PubMed:28963344). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344). Component of the BCR(KCTD13) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD13/BACURD1 and RBX1. Interacts with RHOA; with a preference for RhoA-GDP (PubMed:19782033). Interacts with POLD2 and PCNA (PubMed:11593007). Interacts with SPRTN (PubMed:22902628). {ECO:0000269\|PubMed:11593007, ECO:0000269\|PubMed:19782033, ECO:0000269\|PubMed:22902628, ECO:0000269\|PubMed:28963344}.
Subcellular location:		Nucleus {ECO:0000269\|PubMed:11593007}.
Tissue specificity:		Expressed in a wide variety of tissues. {ECO:0000269\|PubMed:11593007}.
Induction:		By TNF and IL6/interleukin-6. {ECO:0000269\|PubMed:11593007}.
Disease:		Note=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). {ECO:0000269\|PubMed:22596160, ECO:0000269\|PubMed:25695269}.
Similarity:		Belongs to the BACURD family. {ECO:0000305}.