{"entity":{"id":"gli1","kind":"target","name":"GLI1","aka":["GLI family zinc finger 1","Transcription activator GLI1"],"tldr":"GLI1 (Transcription activator GLI1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas and Leiomyosarcoma.","summary":"Transcription activator that acts as a key effector of the smoothened signalling pathway, and which plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Activated in response to smoothened signalling: in presence of hedgehog (DHH, IHH or SHH) and subsequent activation of smoothened, GLI1 translocates to the nucleus and promotes expression of target genes.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Leiomyosarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4317","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4317"},{"label":"UniProt P08151","url":"https://www.uniprot.org/uniprotkb/P08151/entry"},{"label":"NCBI Gene 2735","url":"https://www.ncbi.nlm.nih.gov/gene/2735"},{"label":"Ensembl ENSG00000111087","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111087"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["sarcoma","leiomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["basal-cell-carcinoma-signalling","hedgehog"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GLI1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4317","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4317","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08151","url":"https://www.uniprot.org/uniprotkb/P08151/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GLI1","url":"https://www.intogen.org/search?gene=GLI1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:4317","ensembl":"ENSG00000111087","uniprot":"P08151","entrez":"2735","biology":"Transcription activator that acts as a key effector of the smoothened signalling pathway, and which plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Activated in response to smoothened signalling: in presence of hedgehog (DHH, IHH or SHH) and subsequent activation of smoothened, GLI1 translocates to the nucleus and promotes expression of target genes. In contrast to GLI2 and GLI3, does not contain a repressor domain and only acts as a transcription activator. Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Location: Cytoplasm; Nucleus; Cell projection, cilium (UniProt). Locus 12q13.3 (HGNC).","whereFound":["Sarcomas: IntOGen driver in 1 cohort (LMS)","Leiomyosarcoma: IntOGen driver in 1 cohort (LMS)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/gli1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"leiomyosarcoma","kind":"cancer","name":"Leiomyosarcoma","route":"/cancers/leiomyosarcoma/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}],"pathway":[{"id":"basal-cell-carcinoma-signalling","kind":"pathway","name":"Basal cell carcinoma (KEGG map)","route":"/pathways/basal-cell-carcinoma-signalling/"},{"id":"hedgehog","kind":"pathway","name":"Hedgehog signalling","route":"/pathways/hedgehog/"}]}}