Aliases for GLI1 Gene
External Ids for GLI1 Gene
Previous HGNC Symbols for GLI1 Gene
Previous GeneCards Identifiers for GLI1 Gene
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]
GeneCards Summary for GLI1 Gene
GLI1 (GLI Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with GLI1 include plexiform neurofibroma and ameloblastoma. Among its related pathways are Pathways in cancer and ERK Signaling. GO annotations related to this gene include chromatin binding and microtubule binding. An important paralog of this gene is ZIC4.
UniProtKB/Swiss-Prot for GLI1 Gene
Acts as a transcriptional activator. 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.
The hedgehog (Hh) signaling pathway is crucial in the development of all known animals. In the embryo, it regulates morphogenesis of a variety of tissues and organs, in the adult, it controls stem cell proliferation. There are three human Hh proteins; Sonic hedgehog (Shh), Desert hedgehog (Dhh) and Indian hedgehog (Ihh). Each is expressed at different times of development and in specific cell types and they are tightly controlled by highly complex, yet divergent transcriptional enhancers. Hh protein release and diffusion is controlled by various proteins including Skinny hedgehog (Sit), Dispatched (Disp), Tout-velu (Ttv) and Hedgehog-interacting protein (Hip). Hh proteins bind to the twelve transmembrane domain protein, Patched (Ptc). In the absence of Hh proteins, Ptc catalytically inhibits Smo. Hh-Ptc binding results in loss of Ptc activity and activation of Smo, which transduces the Hh signal to the cytoplasm. This leads to the activation of the Ci/GLI family of transcription factors, through complex interactions of Costal2 (Cos2), Fused (Fu) and Suppressor of fu [Su(fu)]. Furthermore, PKA, CK1, GSK-3 and Slimb modulate this signal transduction pathway. Abberant activation of the Hh pathway has been linked to multiple types of human cancer, particularly basal cell carcinoma. Disruption of Hh signaling during embryonic development, either through congenital mutation or maternal teratogen consumption, can lead to severe developmental disorders such as holoprosencephaly.