I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| GABAergic neuron | 3 studies | 30% ± 5% | |
| glutamatergic neuron | 3 studies | 35% ± 7% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| GABAergic neuron | 3 studies | 30% ± 5% | |
| glutamatergic neuron | 3 studies | 35% ± 7% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 4 studies | 23% ± 6% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| breast | 100% | 2054.06 | 459 / 459 | 100% | 74.08 | 1118 / 1118 |
| esophagus | 100% | 1987.20 | 1445 / 1445 | 100% | 39.51 | 183 / 183 |
| ovary | 100% | 2054.23 | 180 / 180 | 100% | 36.36 | 430 / 430 |
| prostate | 100% | 2245.51 | 245 / 245 | 100% | 57.26 | 502 / 502 |
| uterus | 100% | 2076.18 | 170 / 170 | 100% | 44.61 | 459 / 459 |
| kidney | 100% | 2000.39 | 89 / 89 | 100% | 40.47 | 900 / 901 |
| brain | 100% | 2148.52 | 2639 / 2642 | 100% | 52.42 | 705 / 705 |
| thymus | 100% | 2298.80 | 653 / 653 | 100% | 46.60 | 603 / 605 |
| stomach | 100% | 1576.16 | 359 / 359 | 100% | 39.43 | 285 / 286 |
| skin | 100% | 2253.32 | 1809 / 1809 | 100% | 53.27 | 470 / 472 |
| lung | 99% | 1718.59 | 575 / 578 | 100% | 52.47 | 1155 / 1155 |
| intestine | 100% | 2136.63 | 966 / 966 | 99% | 42.26 | 524 / 527 |
| bladder | 100% | 2200.57 | 21 / 21 | 99% | 38.87 | 501 / 504 |
| liver | 100% | 1188.23 | 226 / 226 | 99% | 30.66 | 401 / 406 |
| pancreas | 100% | 1372.94 | 327 / 328 | 99% | 35.57 | 176 / 178 |
| adrenal gland | 100% | 2299.65 | 258 / 258 | 97% | 36.23 | 224 / 230 |
| adipose | 100% | 2011.76 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 51.64 | 29 / 29 |
| spleen | 100% | 2484.11 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 41.03 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 25.63 | 1 / 1 |
| blood vessel | 100% | 1831.19 | 1334 / 1335 | 0% | 0 | 0 / 0 |
| muscle | 100% | 1341.03 | 800 / 803 | 0% | 0 | 0 / 0 |
| heart | 97% | 1442.90 | 837 / 861 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 96% | 34.24 | 77 / 80 |
| peripheral blood | 89% | 1969.40 | 830 / 929 | 0% | 0 | 0 / 0 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| GO_0014029 | Biological process | neural crest formation |
| GO_0016055 | Biological process | Wnt signaling pathway |
| GO_0006888 | Biological process | endoplasmic reticulum to Golgi vesicle-mediated transport |
| GO_0006513 | Biological process | protein monoubiquitination |
| GO_0014032 | Biological process | neural crest cell development |
| GO_0048208 | Biological process | COPII vesicle coating |
| GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
| GO_0005829 | Cellular component | cytosol |
| GO_0030127 | Cellular component | COPII vesicle coat |
| GO_0031463 | Cellular component | Cul3-RING ubiquitin ligase complex |
| GO_0034451 | Cellular component | centriolar satellite |
| GO_0030134 | Cellular component | COPII-coated ER to Golgi transport vesicle |
| GO_0042802 | Molecular function | identical protein binding |
| GO_0005515 | Molecular function | protein binding |
| Gene name | KLHL12 |
| Protein name | Kelch like family member 12 (cDNA FLJ14350 fis, clone THYRO1001721, weakly similar to RING CANAL PROTEIN) Kelch like family member 12 Kelch-like protein 12 (CUL3-interacting protein 1) (DKIR homolog) (hDKIR) |
| Synonyms | C3IP1 |
| Description | 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) . The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export . 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 and PEF1, without leading to degradation of these proteins . . |
| Accessions | J3QSX3 ENST00000367259.1 Q53G59 Q9H7R2 ENST00000367261.8 [Q53G59-1] ENST00000367258.1 |
