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Aliases for GLI1 Gene

Aliases for GLI1 Gene

  • GLI Family Zinc Finger 1 2 3
  • GLI 3 4 6
  • Glioma-Associated Oncogene Homolog 1 (Zinc Finger Protein) 2 3
  • Oncogene GLI 3 4
  • Glioma-Associated Oncogene Family Zinc Finger 1 2
  • GLI-Kruppel Family Member GLI1 3
  • Glioma-Associated Oncogene 1 3
  • Glioma-Associated Oncogene 4
  • Zinc Finger Protein GLI1 3

External Ids for GLI1 Gene

Previous Symbols for GLI1 Gene

  • GLI

Summaries for GLI1 Gene

Entrez Gene Summary for GLI1 Gene

  • This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GeneCards Summary for GLI1 Gene

GLI1 (GLI Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with GLI1 include plexiform neurofibroma and ameloblastoma. Among its related pathways are Pathways in cancer and ERK Signaling. GO annotations related to this gene include chromatin binding and microtubule binding. An important paralog of this gene is ZIC4.

UniProtKB/Swiss-Prot for GLI1 Gene

  • 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.

Tocris Summary for GLI1 Gene

  • The hedgehog (Hh) signaling pathway is crucial in the development of all known animals. In the embryo, it regulates morphogenesis of a variety of tissues and organs, in the adult, it controls stem cell proliferation. There are three human Hh proteins; Sonic hedgehog (Shh), Desert hedgehog (Dhh) and Indian hedgehog (Ihh). Each is expressed at different times of development and in specific cell types and they are tightly controlled by highly complex, yet divergent transcriptional enhancers. Hh protein release and diffusion is controlled by various proteins including Skinny hedgehog (Sit), Dispatched (Disp), Tout-velu (Ttv) and Hedgehog-interacting protein (Hip). Hh proteins bind to the twelve transmembrane domain protein, Patched (Ptc). In the absence of Hh proteins, Ptc catalytically inhibits Smo. Hh-Ptc binding results in loss of Ptc activity and activation of Smo, which transduces the Hh signal to the cytoplasm. This leads to the activation of the Ci/GLI family of transcription factors, through complex interactions of Costal2 (Cos2), Fused (Fu) and Suppressor of fu [Su(fu)]. Furthermore, PKA, CK1, GSK-3 and Slimb modulate this signal transduction pathway. Abberant activation of the Hh pathway has been linked to multiple types of human cancer, particularly basal cell carcinoma. Disruption of Hh signaling during embryonic development, either through congenital mutation or maternal teratogen consumption, can lead to severe developmental disorders such as holoprosencephaly.

Gene Wiki entry for GLI1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLI1 Gene

Genomics for GLI1 Gene

Genomic Location for GLI1 Gene

57,460,135 bp from pter
57,472,268 bp from pter
12,134 bases
Plus strand

Genomic View for GLI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLI1 Gene

Regulatory Elements for GLI1 Gene

Proteins for GLI1 Gene

  • Protein details for GLI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein GLI1
    Protein Accession:
    Secondary Accessions:
    • D0EUY3
    • E9PQQ9
    • F5H6H8
    • Q8TDN9

    Protein attributes for GLI1 Gene

    1106 amino acids
    Molecular mass:
    117904 Da
    Quaternary structure:
    • Interacts with KIF7 (By similarity). Interacts with ZIC1; the interaction enhances transcription activation.

    Three dimensional structures from OCA and Proteopedia for GLI1 Gene

    Alternative splice isoforms for GLI1 Gene


neXtProt entry for GLI1 Gene

Proteomics data for GLI1 Gene at MOPED

Post-translational modifications for GLI1 Gene

No data available for DME Specific Peptides for GLI1 Gene

Domains for GLI1 Gene

Gene Families for GLI1 Gene

  • ZNF :Zinc fingers, C2H2-type

Protein Domains for GLI1 Gene

Suggested Antigen Peptide Sequences for GLI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GLI C2H2-type zinc-finger protein family.:
    • P08151
  • Contains 5 C2H2-type zinc fingers.:
    • P08151
genes like me logo Genes that share domains with GLI1: view

Function for GLI1 Gene

Molecular function for GLI1 Gene

UniProtKB/Swiss-Prot Function: 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.
UniProtKB/Swiss-Prot Induction: Amplified in glioblastoma cells

Gene Ontology (GO) - Molecular Function for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 9118802
GO:0003682 chromatin binding IEA --
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 10564661
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with GLI1: view
genes like me logo Genes that share phenotypes with GLI1: view

Animal Models for GLI1 Gene

MGI Knock Outs for GLI1:

miRNA for GLI1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GLI1 Gene

Localization for GLI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLI1 Gene

Cytoplasm. Nucleus. Note=Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36. Phosphorylation by ULK3 may promote nuclear localization. Translocation to the nucleus is promoted by interaction with ZIC1.

Subcellular locations from

Jensen Localization Image for GLI1 Gene COMPARTMENTS Subcellular localization image for GLI1 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10806483
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 10504446
GO:0005829 cytosol TAS --
GO:0005929 cilium --
genes like me logo Genes that share ontologies with GLI1: view

Pathways for GLI1 Gene

genes like me logo Genes that share pathways with GLI1: view

Pathways by source for GLI1 Gene

Gene Ontology (GO) - Biological Process for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 12165851
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007224 smoothened signaling pathway TAS 11001584
GO:0007283 spermatogenesis IEA --
GO:0007418 ventral midline development IEA --
genes like me logo Genes that share ontologies with GLI1: view

Compounds for GLI1 Gene

(5) Tocris Compounds for GLI1 Gene

Compound Action Cas Number
20(S)-Hydroxycholesterol Allosteric activator of Hedgehog (Hh) signaling; induces Smo accumulation [516-72-3]
AY 9944 dihydrochloride Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase [366-93-8]
Ciliobrevin A Hedgehog (Hh) pathway antagonist; inhibits ciliogenesis [302803-72-1]
Cyclopamine Inhibitor of Hedgehog (Hh) signaling [4449-51-8]
SANT-1 Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity [304909-07-7]

(6) Novoseek inferred chemical compound relationships for GLI1 Gene

Compound -log(P) Hits PubMed IDs
cyclopamine 94.4 19
zinc 55.6 24
actb 50.9 2
glucose 1.46 1
phosphatidylinositol 0 1
genes like me logo Genes that share compounds with GLI1: view

Transcripts for GLI1 Gene

Unigene Clusters for GLI1 Gene

GLI family zinc finger 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GLI1 Gene

No ASD Table

Relevant External Links for GLI1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GLI1 Gene

mRNA expression in normal human tissues for GLI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLI1 Gene

This gene is overexpressed in Nerve - Tibial (9.7) and Cervix - Endocervix (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GLI1 Gene

SOURCE GeneReport for Unigene cluster for GLI1 Gene Hs.632702

mRNA Expression by UniProt/SwissProt for GLI1 Gene

Tissue specificity: Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract.
genes like me logo Genes that share expressions with GLI1: view

Orthologs for GLI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLI1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GLI1 35
  • 99.52 (n)
  • 99.19 (a)
GLI1 36
  • 99 (a)
(Bos Taurus)
Mammalia GLI1 35
  • 88.87 (n)
  • 90.05 (a)
GLI1 36
  • 90 (a)
(Canis familiaris)
Mammalia GLI1 35
  • 89.77 (n)
  • 91.22 (a)
GLI1 36
  • 91 (a)
(Mus musculus)
Mammalia Gli1 35
  • 84.03 (n)
  • 86.05 (a)
Gli1 16
Gli1 36
  • 85 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 18 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
(Rattus norvegicus)
Mammalia Gli1 35
  • 83.88 (n)
  • 86.23 (a)
(Gallus gallus)
Aves GLI1 36
  • 62 (a)
(Anolis carolinensis)
Reptilia GLI1 36
  • 44 (a)
(Danio rerio)
Actinopterygii -- 35
gli1 36
  • 36 (a)
fruit fly
(Drosophila melanogaster)
Insecta ci 36
  • 20 (a)
(Caenorhabditis elegans)
Secernentea ref-2 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
Species with no ortholog for GLI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GLI1 Gene

Gene Tree for GLI1 (if available)
Gene Tree for GLI1 (if available)

Paralogs for GLI1 Gene

Paralogs for GLI1 Gene

genes like me logo Genes that share paralogs with GLI1: view

Variants for GLI1 Gene

Sequence variations from dbSNP and Humsavar for GLI1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs492239 -- 57,469,018(+) aagtg(C/T)tggga intron-variant
rs2228224 - 57,471,538(+) GGGGG(A/G)TTCCC missense, reference
rs2228225 -- 57,465,648(+) CGGGA(A/C/G)GAACC synonymous-codon, missense, reference
rs2242578 -- 57,459,370(+) CTAGG(C/G)AAAGG upstream-variant-2KB
rs2292657 -- 57,466,149(-) TTCCA(C/T)GACTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLI1 Gene

Variant ID Type Subtype PubMed ID
nsv899117 CNV Loss 21882294
nsv899118 CNV Gain 21882294
dgv513e1 CNV Complex 17122850
nsv428283 CNV Gain 18775914
nsv469411 CNV Loss 19166990
nsv899119 CNV Loss 21882294
nsv8974 CNV Gain 18304495

Relevant External Links for GLI1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLI1 Gene

Disorders for GLI1 Gene

(34) Novoseek inferred disease relationships for GLI1 Gene

Disease -log(P) Hits PubMed IDs
carcinoma basal cell 78.4 21
medulloblastoma 73.3 17
pallister-hall syndrome 66.8 1
rhabdomyosarcoma 51.2 5
tumors 50.6 56

Relevant External Links for GLI1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GLI1: view

No data available for UniProtKB/Swiss-Prot for GLI1 Gene

Publications for GLI1 Gene

  1. Physical and functional interactions between Zic and Gli proteins. (PMID: 11238441) Koyabu Y. … Mikoshiba K. (J. Biol. Chem. 2001) 3 4 23
  2. Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathways. (PMID: 19071955) Lees C.W. … Satsangi J. (PLoS Med. 2008) 3 23 48
  3. A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion. (PMID: 19706761) Lo H.W. … Ali-Osman F. (Cancer Res. 2009) 3 4 23
  4. GLI1 genotypes do not predict basal cell carcinoma risk: a case control study. (PMID: 19948058) Watson A. … Walterhouse D.O. (Mol. Cancer 2009) 3 23 48
  5. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. (PMID: 20081843) Canettieri G. … Gulino A. (Nat. Cell Biol. 2010) 3 4 23

Products for GLI1 Gene

  • Addgene plasmids for GLI1

Sources for GLI1 Gene

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