| Gene Symbol |
KLHL12
|
| Entrez Gene |
59349
|
| Alt Symbol |
C3IP1, DKIR
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
kelch-like family member 12
|
| Other Description |
CUL3-interacting protein 1|DKIR homolog|kelch-like protein 12|kelch-like protein C3IP1
|
| Swissprots |
B7Z7B8 Q53G59 Q9HBX5 A6NEN8
|
| Accessions |
EAW91444 EAW91445 EAW91446 EAW91447 EAW91448 Q53G59 AF190900 AAG17175 AF306687 AF306689 AK024412 BAB14914 AK027656 BAB55271 AK130662 AK223072 BAD96792 AK301791 BAH13554 BC003183 AAH03183 BC004175 AAH04175 DB461868 DC399782 EU446840 ABZ92369 HY269282 XM_011509835 XP_011508137 XM_011509836 XP_011508138 XM_011509837 XP_011508139 NM_001303051 NP_001289980 NM_001303109 NP_001290038 NM_021633 NP_067646
|
| 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:0000269|PubMed:16547521, ECO:0000269|PubMed:18303015, ECO:0000269|PubMed:20100572, ECO:0000269|PubMed:22358839}.
|
| Subcellular Location |
Cytoplasmic vesicle, COPII-coated vesicle {ECO:0000269|PubMed:22358839}.
|
| Tissue Specificity |
Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland. {ECO:0000269|PubMed:15383316, ECO:0000269|PubMed:16108817}.
|