mutLBSgeneDB |
Gene summary for GLI1 |
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Basic gene Info. | Gene symbol | GLI1 |
Gene name | GLI family zinc finger 1 | |
Synonyms | GLI | |
Cytomap | UCSC genome browser: 12q13.2-q13.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001160045.1, NM_001167609.1,NM_005269.2, | |
Description | GLI-Kruppel family member GLI1glioma-associated oncogene 1glioma-associated oncogene homolog 1 (zinc finger protein)oncogene GLIzinc finger protein GLI1 | |
Modification date | 20141222 | |
dbXrefs | MIM : 165220 | |
HGNC : HGNC | ||
Ensembl : ENSG00000111087 | ||
HPRD : 01311 | ||
Vega : OTTHUMG00000167332 | ||
Protein | UniProt: P08151 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GLI1 | |
BioGPS: 2735 | ||
Pathway | NCI Pathway Interaction Database: GLI1 | |
KEGG: GLI1 | ||
REACTOME: GLI1 | ||
Pathway Commons: GLI1 | ||
Context | iHOP: GLI1 | |
ligand binding site mutation search in PubMed: GLI1 | ||
UCL Cancer Institute: GLI1 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
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GO ID | GO Term | PubMed ID | GO:0001649 | osteoblast differentiation | 12165851 | GO:0007224 | smoothened signaling pathway | 19878745 | GO:0009913 | epidermal cell differentiation | 12165851 | GO:0045740 | positive regulation of DNA replication | 12165851 | GO:0045880 | positive regulation of smoothened signaling pathway | 17035233 | GO:0045893 | positive regulation of transcription, DNA-templated | 11238441 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 10693759 |
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Ligand binding site mutations for GLI1 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | R380 | R380Q | COAD | 3 | H321 | R323W | BRCA | 1 | H262 | G263E | COAD | 1 | R314 | R314L | KIRC | 1 | K360,C364 | Y362C | LUSC | 1 | S378 | S378L | SKCM | 1 | R314 | R314H | STAD | 1 | R380 | R380Q | UCEC | 1 | C237 | T235I | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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GLI1 family zinc finger 1 (GLI1) is a gene that encodes a protein that functions as a transcription factor protein. The protein is activated by the sonic hedgehog signal transduction pathway. The protein also plays a role in the regulation of stem cell proliferation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.Modified: July 1, 2015 |
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Protein structure related information for GLI1 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | S378 | S378L | 0.30506206 | H262 | G263E | 0.15755344 | R380 | R380Q | -1.4678383 | C237 | T235I | -1.2638596 | C364 | Y362C | -1.0628328 | K360 | Y362C | -1.0628328 | H321 | R323W | -1.0216747 | R314 | R314H | -0.97554572 | R314 | R314L | -0.37528252 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
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PDB ID | PDB title | PDB structure | 2GLI | FIVE-FINGER GLI/DNA COMPLEX | ![]() |
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Differential gene expression and gene-gene network for GLI1 |
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Phenotype information for GLI1 |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0005695 | Urinary Bladder Neoplasms | 3 | Biomarker |
umls:C0023487 | Leukemia, Promyelocytic, Acute | 1 | Biomarker |
umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GLI1 |
![]() Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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Drug status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of GLI1 |
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LBS | AA sequence | # species | Species |
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