GLI1 (GLI Family Zinc Finger 1)
Key transcriptional effector of the Hedgehog signaling pathway involved in development and cancer
Gene Information Card
| Symbol | GLI1 |
|---|---|
| Full Name | GLI family zinc finger 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 2735 ncbi.nlm.nih.gov/gene/2735 |
| Ensembl ID | ENSG00000116044 |
| UniProt ID | P08151 |
| OMIM ID | 165220 |
| HGNC ID | 4317 |
| Aliases | GLI, glioma-associated oncogene homolog 1, Zfp5 |
Description
GLI1 encodes a zinc finger transcription factor that is a key mediator of the Hedgehog (Hh) signaling pathway. It regulates target genes involved in cell proliferation, differentiation, and stem cell maintenance. Aberrant activation of GLI1 is associated with various cancers, including basal cell carcinoma, medulloblastoma, and rhabdomyosarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Basal cell carcinoma | Constitutive activation of Hedgehog signaling leads to GLI1 overexpression and uncontrolled proliferation | ClinVar, COSMIC |
| Medulloblastoma | Sonic Hedgehog (SHH) subtype tumors show GLI1 amplification or pathway activation | COSMIC, NCBI |
| Rhabdomyosarcoma | GLI1 amplification and overexpression drive tumorigenesis | COSMIC, OMIM |
| Gorlin syndrome (Nevoid basal cell carcinoma syndrome) | PTCH1 loss-of-function mutations cause Hedgehog pathway disinhibition and GLI1 activation | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Skin | 8.3 | Low |
| Testis | 6.1 | Low |
| Adipose tissue | 4.2 | Low |
| Brain cortex | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| DAOY (medulloblastoma) | 15.2 | High expression; SHH subtype model |
| HaCaT (keratinocyte) | 9.8 | Moderate; Hedgehog-responsive |
| HEK293 (embryonic kidney) | 2.1 | Low baseline expression |
| MCF7 (breast cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1118G>A (p.Arg373His) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation |
| GLI1 amplification | Copy number gain | 1-5% in medulloblastoma | Gain of function; increased transcriptional activity |
| GLI1 fusion (e.g., with ACTB) | Fusion | Rare | Oncogenic; constitutive activation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing transcriptional activity.
Gain of Function (GOF)
Amplification or activating missense mutations that enhance GLI1 stability or DNA binding, leading to uncontrolled proliferation.
Dominant Negative (DN)
Not well characterized; some truncations may interfere with wild-type GLI1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (KEGG hsa04340)
• GLI1 transcription factor network (Reactome R-HSA-5632681)
• Developmental biology (Reactome R-HSA-1266738)
Protein Summary
GLI1 is a 1106-amino acid zinc finger transcription factor that localizes to the nucleus upon Hedgehog pathway activation. It contains five C2H2-type zinc finger domains that mediate DNA binding to GLI-responsive elements. The protein is regulated by proteolytic processing and phosphorylation. Overexpression or constitutive activation drives oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLI1 Knockout HEK293 Cell Line | EDJ-KQ896 | Human | 2735 | Details Get a Quote |
| GLI1 Knockout HCT 116 Cell Line | EDJ-KQ18397 | Human | 2735 | Details Get a Quote |
| GLI1 Knockout A-549 Cell Line | EDJ-KQ19738 | Human | 2735 | Details Get a Quote |
| GLI1 Knockout HeLa Cell Line | EDJ-KQ53355 | Human | 2735 | Details Get a Quote |
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