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GeneE
28 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GLI1
GLI family zinc finger 1
Chromosome 12 Β· 12q13.3
NCBI Gene: 2735Ensembl: ENSG00000111087.11HGNC: HGNC:4317UniProt: B4DNF7
468PubMed Papers
22Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IItranscription cis-regulatory region bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA bindingpolydactyly, postaxial, type A8polydactyly of a biphalangeal thumbEllis-van Creveld syndromeEllis Van Creveld syndrome
✦AI Summary

GLI1 (GLI family zinc finger 1) functions as a transcriptional activator and serves as the nuclear mediator of the Hedgehog signaling pathway, regulating genes essential for cell growth, differentiation, and tumor development 1. The protein exists in multiple isoforms with distinct functions, including a truncated variant (tGLI1) that exhibits gain-of-function properties and promotes more aggressive cancer phenotypes 1. GLI1 alterations, including gene fusions, amplifications, and rearrangements, define an emerging group of mesenchymal neoplasms characterized by distinctive nested morphology with ovoid cells and rich vascular networks 2. These GLI1-altered tumors occur across various anatomic sites including kidney, uterus, and soft tissues, often presenting diagnostic challenges due to variable morphology and immunophenotype 3. GLI1 immunohistochemistry demonstrates high specificity (98.0%) and sensitivity (91.3%) for identifying mesenchymal neoplasms with driver GLI1 alterations 4. In cancer biology, GLI1 promotes cellular processes including proliferation, migration, invasion, and angiogenesis 1. The protein also mediates peripheral neural remodeling in pancreatic cancer through exosomal circRNA mechanisms 5 and promotes osteogenic transformation in calcific aortic valve disease 6. GLI1 coamplification occurs in approximately 19% of well-differentiated/dedifferentiated liposarcomas, often associated with unique morphological features 7.

Sources cited
1
GLI1 serves as nuclear mediator of Hedgehog pathway and exists in multiple isoforms with different functions
PMID: 22369969
2
GLI1-altered mesenchymal tumors have distinctive nested morphology and potential for metastasis
PMID: 38278602
3
GLI1-altered neoplasms occur in various anatomic sites with variable morphology causing diagnostic challenges
PMID: 34907995
4
GLI1 immunohistochemistry has high specificity and sensitivity for GLI1-altered mesenchymal neoplasms
PMID: 36693363
5
GLI1 mediates peripheral neural remodeling in pancreatic cancer through exosomal mechanisms
PMID: 38041128
6
GLI1 promotes osteogenic transformation in calcific aortic valve disease
PMID: 37151880
7
GLI1 coamplification occurs in 19% of well-differentiated/dedifferentiated liposarcomas
PMID: 38621503
Disease Associationsβ“˜22
polydactyly, postaxial, type A8Open Targets
0.70Moderate
polydactyly of a biphalangeal thumbOpen Targets
0.63Moderate
Ellis-van Creveld syndromeOpen Targets
0.37Weak
Ellis Van Creveld syndromeOpen Targets
0.37Weak
postaxial polydactyly type AOpen Targets
0.37Weak
postaxial polydactyly type BOpen Targets
0.37Weak
preaxial polydactyly of fingersOpen Targets
0.37Weak
leiomyosarcomaOpen Targets
0.23Weak
injuryOpen Targets
0.23Weak
melanomaOpen Targets
0.21Weak
hepatocellular carcinomaOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.21Weak
acute myeloid leukemiaOpen Targets
0.21Weak
non-small cell lung carcinomaOpen Targets
0.21Weak
gliomaOpen Targets
0.21Weak
chronic lymphocytic leukemiaOpen Targets
0.21Weak
skin basal cell carcinomaOpen Targets
0.21Weak
lung adenocarcinomaOpen Targets
0.21Weak
esophageal adenocarcinomaOpen Targets
0.21Weak
breast carcinomaOpen Targets
0.21Weak
Polydactyly, postaxial, A8UniProt
Polydactyly, preaxial 1UniProt
Pathogenic Variants10
NM_005269.3(GLI1):c.1013G>T (p.Cys338Phe)Pathogenic
Polydactyly, postaxial, type A8
β˜…β˜†β˜†β˜†2024β†’ Residue 338
NM_005269.3(GLI1):c.1361del (p.Pro454fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 454
NM_005269.3(GLI1):c.2340G>A (p.Trp780Ter)Pathogenic
Polydactyly, postaxial, type A8
β˜…β˜†β˜†β˜†2023β†’ Residue 780
NM_005269.3(GLI1):c.1078-1G>CLikely pathogenic
GLI1-related disorder
β˜…β˜†β˜†β˜†2023
NM_005269.3(GLI1):c.337C>T (p.Arg113Ter)Pathogenic
Polydactyly, postaxial, type A8
β˜…β˜†β˜†β˜†2022β†’ Residue 113
NM_005269.3(GLI1):c.821dup (p.Cys275fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 275
NM_005269.3(GLI1):c.985A>T (p.Lys329Ter)Likely pathogenic
Polydactyly, postaxial, type A8
β˜…β˜†β˜†β˜†2020β†’ Residue 329
NM_005269.3(GLI1):c.1796del (p.Gly599fs)Likely pathogenic
not specified
β˜…β˜†β˜†β˜†2020β†’ Residue 599
NM_005269.3(GLI1):c.2968C>T (p.Arg990Ter)Likely pathogenic
GLI1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 990
NM_005269.3(GLI1):c.1930C>T (p.Gln644Ter)Pathogenic
Polydactyly, postaxial, type A8
β˜†β˜†β˜†β˜†2018β†’ Residue 644
View on ClinVar β†—
Related Genes
SUFUProtein interaction100%KIF7Protein interaction100%SPOPProtein interaction99%SMOProtein interaction99%BTRCProtein interaction98%SHHProtein interaction98%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
85%
Lung
71%
Liver
41%
Ovary
40%
Brain
16%
Gene Interaction Network
Click a node to explore
GLI1SUFUKIF7SPOPSMOBTRCSHH
PROTEIN STRUCTURE
Preparing viewer…
PDB4KMD Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.44–0.70]
RankingsWhere GLI1 stands among ~20K protein-coding genes
  • #575of 20,598
    Most Researched468 Β· top 5%
  • #2,816of 5,498
    Most Pathogenic Variants10
  • #5,368of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedGLI1
Sources retrieved28 papers
Response timeβ€”
πŸ“„ Sources
28β–Ό
1
GLI1-Altered Mesenchymal Tumors.
PMID: 38278602
Surg Pathol Clin Β· 2024
1.00
2
Gastroblastoma without GLI1 and EWSR1 gene breaks.
PMID: 37658451
World J Surg Oncol Β· 2023
0.90
3
GLI1 Gene Alterations in Neoplasms of the Genitourinary and Gynecologic Tract.
PMID: 34907995
Am J Surg Pathol Β· 2022
0.80
4
Tumor-derived GLI1 promotes remodeling of the immune tumor microenvironment in melanoma.
PMID: 39090759
J Exp Clin Cancer Res Β· 2024
0.76
5
Another twist to the GLI code.
PMID: 33242334
Biochem J Β· 2020
0.72