| Gene Symbol |
Gli3
|
| Entrez Gene |
14634
|
| Alt Symbol |
AI854843, AU023367, Bph, GLI3-190, GLI3FL, Pdn, Xt, add
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
GLI-Kruppel family member GLI3
|
| Other Description |
GLI3 form of 190 kDa|GLI3 full length protein|anterior digit pattern deformity|brachyphalangy|extra toes|polydactyly Nagoya|transcriptional activator GLI3|zinc finger protein GLI3
|
| Swissprots |
Q61602
|
| Accessions |
EDL32734 Q61602 AK037232 AK045960 AK048009 AK053922 AK144851 BAE26100 AK158261 BAE34433 BC141135 AAI41136 BC145445 AAI45446 CA752350 X95255 CAA64543 XM_006516552 XP_006516615 XM_006516553 XP_006516616 XM_006516554 XP_006516617 NM_008130 NP_032156
|
| Function |
Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'. {ECO:0000269|PubMed:10693759, ECO:0000269|PubMed:11053430, ECO:0000269|PubMed:17400206, ECO:0000269|PubMed:19389374, ECO:0000269|PubMed:20360384}.
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:20360384}. Cytoplasm {ECO:0000269|PubMed:20360384}. Cell projection, cilium {ECO:0000269|PubMed:20360384}. Note=Translocation to the nucleus is promoted by interaction with ZIC1 (By similarity). GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. {ECO:0000250}.
|
| Top Pathways |
Hedgehog signaling pathway, Basal cell carcinoma, cAMP signaling pathway
|
