GLI1: 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. Interacts with KIF7. Interacts with ZIC1; the interaction enhances transcription activation. Amplified in glioblastoma cells. Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. Belongs to the GLI C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription factor; Oncoprotein; C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: 12q13.2-q13.3
Cellular Component: nucleoplasm; intracellular membrane-bound organelle; cytoplasm; nucleus; cytosol
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; DNA binding; metal ion binding; microtubule binding; chromatin binding
Biological Process: transcription from RNA polymerase II promoter; smoothened signaling pathway; ventral midline development; smoothened signaling pathway in regulation of granule cell precursor cell proliferation; positive regulation of transcription, DNA-dependent; digestive tract morphogenesis; notochord regression; osteoblast differentiation; cerebellar cortex morphogenesis; dorsal/ventral pattern formation; pituitary gland development; positive regulation of cell proliferation; positive regulation of smoothened signaling pathway; epidermal cell differentiation; spermatogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of DNA replication; proximal/distal pattern formation; regulation of smoothened signaling pathway; lung development
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