ID:KLH12_HUMAN DESCRIPTION: RecName: Full=Kelch-like protein 12; AltName: Full=CUL3-interacting protein 1; AltName: Full=DKIR homolog; Short=hDKIR; FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport. The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3. The BCR(KLHL12) complex also mediates polyubiquitination of DRD4, without leading to degradation of DRD4. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Component of the BCR(KLHL12) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL12 and RBX1. This complex interacts with DVL3 upon activation of the Wnt signaling pathway by WNT3A. Interacts with DRD4, KLHL12 and SEC31A. INTERACTION: P54253:ATXN1; NbExp=2; IntAct=EBI-740929, EBI-930964; Q9UBV8:PEF1; NbExp=2; IntAct=EBI-740929, EBI-724639; SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle. TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland. DOMAIN: The BTB domain is required for interaction with CUL3. SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain. SIMILARITY: Contains 1 BTB (POZ) domain. SIMILARITY: Contains 6 Kelch repeats.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q53G59
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0042802 identical protein binding GO:0004842 ubiquitin-protein transferase activity
Biological Process: GO:0006513 protein monoubiquitination GO:0006888 ER to Golgi vesicle-mediated transport GO:0014029 neural crest formation GO:0014032 neural crest cell development GO:0016055 Wnt signaling pathway GO:0016192 vesicle-mediated transport GO:0016567 protein ubiquitination GO:0048208 COPII vesicle coating GO:0090090 negative regulation of canonical Wnt signaling pathway
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
