KCTD13
entrez
253980
canonical
uniprot
Q8WZ19
canonical
ensembl
ENSG00000174943
resolver
ensp
ENSP00000311202
resolver
ensp
ENSP00000455785
resolver
ensp
ENSP00000497126
resolver
ensp
ENSP00000559905
resolver
enst
ENST00000308768
resolver
enst
ENST00000567795
resolver
enst
ENST00000568000
resolver
genesymbol
KCTD13
resolver
genesymbol_syn
BACURD1
resolver
genesymbol_syn
PDIP1
resolver
genesymbol_syn
POLDIP1
resolver
hgnc
HGNC:22234
resolver
uniprot
A0A3B3IS45
resolver
uniprot
A8K0R5
resolver
uniprot
Q96P93
resolver
uniprot
Q96SA1
resolver
uniprot_entry
A0A3B3IS45_HUMAN
resolver
uniprot_entry
BACD1_HUMAN
resolver
uniprot_sec
A8K0R5
resolver
uniprot_sec
Q96P93
resolver
uniprot_sec
Q96SA1
resolver
amino_acid_sequence
MSAEASGPAAAAAPSLEAPKPSGLEPGPAAYGLKPLTPNSKYVKLNVGGSLHYTTLRTLTGQDTMLKAMFSGRVEVLTDAGGWVLIDRSGRHFGTILNYLRDGSVPLPESTRELGELLGEARYYLVQGLIEDCQLALQQKRETLSPLCLIPMVTSPREEQQLLASTSKPVVKLLHNRSNNKYSYTSTSDDNLLKNIELFDKLALRFHGRLLFLKDVLGDEICCWSFYGQGRKIAEVCCTSIVYATEKKQTKVEFPEARIFEETLNILIYETPRGPDPALLEATGGAAGAGGAGRGEDEENREHRVRRIHVRRHITHDERPHGQQIVFKD
uniprot
proteins
disease_involvement
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}.
uniprot
proteins
function
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). Mediates also the ubiquitination and degradation of GluN1/GRIN1 to regulate excitatory synaptic transmission and seizure susceptibility (PubMed:37142655). {ECO:0000250|UniProtKB:Q8BGV7, ECO:0000269|PubMed:19782033, ECO:0000269|PubMed:37142655}.
uniprot
proteins
mass_dalton
36357
uniprot
proteins
mutagenesis
MUTAGEN 84..86; /note="VLI->AAA: Abolishes interaction with CUL3 and induces abnormal actin stress fibers."; /evidence="ECO:0000269|PubMed:19782033
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:19782033}.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD10/BACURD3 and RBX1, leading to proteasomal degradation. {ECO:0000250|UniProtKB:Q8BGV7}.
uniprot
proteins
protein_family
BACURD family
uniprot
proteins
pubmed
11593007
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19782033
uniprot
proteins
pubmed
22596160
uniprot
proteins
pubmed
22902628
uniprot
proteins
pubmed
25695269
uniprot
proteins
pubmed
27668412
uniprot
proteins
pubmed
28963344
uniprot
proteins
pubmed
37142655
uniprot
proteins
sequence_length
329
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11593007, ECO:0000269|PubMed:37142655}. Cytoplasm {ECO:0000269|PubMed:37142655}.
uniprot
proteins