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: axoneme; cytoplasm; cytosol; intracellular membrane-bound organelle; nucleoplasm; nucleus
Molecular Function: chromatin binding; DNA binding; metal ion binding; microtubule binding; protein binding; RNA polymerase II transcription factor activity, enhancer binding; sequence-specific DNA binding
Biological Process: cerebellar cortex morphogenesis; digestive tract morphogenesis; dorsal/ventral pattern formation; epidermal cell differentiation; lung development; notochord regression; osteoblast differentiation; pituitary gland development; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of DNA replication; positive regulation of smoothened signaling pathway; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; proximal/distal pattern formation; regulation of osteoblast differentiation; regulation of smoothened signaling pathway; smoothened signaling pathway; smoothened signaling pathway in regulation of granule cell precursor cell proliferation; spermatogenesis; transcription, DNA-dependent; ventral midline development
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