| Gene Symbol |
KCTD11
|
| Entrez Gene |
147040
|
| Alt Symbol |
C17orf36, KCASH1, REN, REN/KCTD11
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
potassium channel tetramerization domain containing 11
|
| Other Description |
BTB/POZ domain-containing protein KCTD11|potassium channel tetramerisation domain containing 11|retinoic acid, EGF, NGF induced gene protein|retinoic acid, EGF, NGF induced gene/potassium channel tetramerization domain containing 11
|
| Swissprots |
Q693B1 B3KPE0
|
| Accessions |
EAW90208 Q693B1 AK056227 BAG51652 AY646650 AAT75307 BC019929 AAH19929 BC063604 BC103744 BC110598 AAI10599 NM_001002914 NP_001002914
|
| Function |
Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as an E3 ubiquitin-protein ligase towards HDAC1, leading to its proteasomal degradation. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcrition factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock- down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade. {ECO:0000269|PubMed:15249678, ECO:0000269|PubMed:20081843, E
|
| Tissue Specificity |
Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma. {ECO:0000269|PubMed:15249678}.
|