Version 5.4
| Homo sapiens Protein: KLHL12 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-105886.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | KLHL12 | ||||||||||||||||||
| Protein Name | kelch-like 12 (Drosophila) | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000356230 | ||||||||||||||||||
| InnateDB Gene | IDBG-105884 (KLHL12) | ||||||||||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||||||||||
| 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. {ECO:0000269PubMed:16547521, ECO:0000269PubMed:18303015, ECO:0000269PubMed:20100572, ECO:0000269PubMed:22358839}. | ||||||||||||||||||
| Subcellular Localization | Cytoplasmic vesicle, COPII-coated vesicle {ECO:0000269PubMed:22358839}. | ||||||||||||||||||
| Disease Associations | |||||||||||||||||||
| Tissue Specificity | Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland. {ECO:0000269PubMed:15383316, ECO:0000269PubMed:16108817}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR000210
BTB/POZ-like IPR006652 Kelch repeat type 1 IPR011333 BTB/POZ fold IPR011498 Kelch repeat type 2 IPR011705 BTB/Kelch-associated IPR013069 BTB/POZ IPR017096 Kelch-like protein, gigaxonin type |
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| PFAM |
PF01344
PF07646 PF07707 PF00651 |
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| PRINTS | |||||||||||||||||||
| PIRSF |
PIRSF037037
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| SMART |
SM00225
SM00612 SM00875 |
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| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q53G59 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q53G59 | ||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 59349 | ||||||||||||||||||
| UniGene | Hs.706793 | ||||||||||||||||||
| RefSeq | NP_067646 | ||||||||||||||||||
| HUGO | HGNC:19360 | ||||||||||||||||||
| OMIM | 614522 | ||||||||||||||||||
| CCDS | CCDS1429 | ||||||||||||||||||
| HPRD | 13925 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC096632 AF190900 AK027656 AK223072 AK301791 BC003183 BC004175 | ||||||||||||||||||
| GenPept | AAG17175 AAH03183 AAH04175 BAB55271 BAD96792 BAH13554 | ||||||||||||||||||