This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009],
show all
Function:
Disease:Defects in GLI1 may be a cause of breast cancer.,Function:May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling and thus cell proliferation and differentiation.,induction:Amplified in glioblastoma cells.,similarity:Belongs to the GLI C2H2-type zinc-finger protein family.,similarity:Contains 5 C2H2-type zinc fingers.,subcellular location:Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36.,tissue specificity:Testis, myometrium and fallopian tube.,
show all
Cellular Localization:
Cytoplasm . Nucleus . Tethered in the cytoplasm by binding to SUFU (PubMed:10806483). Activation and translocation to the nucleus is promoted by interaction with STK36 (PubMed:10806483). Phosphorylation by ULK3 may promote nuclear localization (PubMed:19878745). Translocation to the nucleus is promoted by interaction with ZIC1 (PubMed:11238441). .; [Isoform 2]: Cytoplasm . Nucleus .
show all
Tissue Expression:
Detected in testis (at protein level) (PubMed:2105456). Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract (PubMed:19878745). Isoform 1 is detected in brain, spleen, pancreas, liver, kidney and placenta; isoform 2 is not detectable in these tissues (PubMed:19706761).
show all
Research Areas:
>>cAMP signaling pathway ;
>>Hedgehog signaling pathway ;
>>Pathways in cancer ;
>>Basal cell carcinoma