| Gene Symbol | GLI3 |
|---|---|
| Entrez Gene | 2737 |
| Alt Symbol | ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV |
| Species | Human |
| Gene Type | protein-coding |
| Description | GLI family zinc finger 3 |
| Other Description | GLI-Kruppel family member GLI3|glioma-associated oncogene family zinc finger 3|oncogene GLI3|transcriptional activator GLI3|zinc finger protein GLI3 |
| Swissprots | A4D1W1 Q75MU9 Q9UDT5 O75219 Q9UJ39 P10071 Q17RW4 Q75MT0 |
| Accessions | AAP21869 AAS01998 AAS02015 CAB59315 EAL24002 EAW94144 EAW94145 P10071 AA330409 AI863961 AK299299 BAG61313 AK308429 BC032660 BC113616 AAI13617 BC117168 AAI17169 BF194991 BI497308 DA713549 M57609 AAA52564 XM_005249703 XP_005249760 XM_005249704 XP_005249761 XM_011515272 XP_011513574 XM_011515273 XP_011513575 XM_011515274 XP_011513576 NM_000168 NP_000159 |
| 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:11238441, ECO:0000269|PubMed:17764085}. |
| Subcellular Location | Nucleus. Cytoplasm. Cell projection, cilium. Note=GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. Translocation to the nucleus is promoted by interaction with ZIC1. |
| Tissue Specificity | Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium. |
| Top Pathways | Hedgehog signaling pathway, Basal cell carcinoma, cAMP signaling pathway |