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Aliases for GLI1 Gene

Aliases for GLI1 Gene

  • GLI Family Zinc Finger 1 2 3 5
  • Glioma-Associated Oncogene Homolog 1 (Zinc Finger Protein) 2 3
  • Oncogene GLI 3 4
  • 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 HGNC Symbols for GLI1 Gene

  • GLI

Previous GeneCards Identifiers for GLI1 Gene

  • GC12P056141
  • GC12P057853
  • GC12P054892

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]

CIViC summary for GLI1 Gene

GeneCards Summary for GLI1 Gene

GLI1 (GLI Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with GLI1 include Basal Cell Carcinoma and Necrobiosis Lipoidica. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and G-Beta Gamma Signaling. GO annotations related to this gene include chromatin binding and microtubule binding. An important paralog of this gene is GLI2.

UniProtKB/Swiss-Prot for GLI1 Gene

  • Acts as a transcriptional activator (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5-GACCACCCA-3 (PubMed:2105456, PubMed:8378770, PubMed:24217340). May regulate the transcription of specific genes during normal development (PubMed:19706761). 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 (PubMed:19706761). Plays a role in cell proliferation and differentiation via its role in SHH signaling (Probable).

  • Isoform 2: Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration.

Tocris Summary for GLI1 Gene

  • The Hedgehog (Hh) signaling pathway is crucial in the development of all 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 known human Hh proteins: Shh, Dhh and Ihh.

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

Regulatory Elements for GLI1 Gene

Enhancers for GLI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G057339 1.3 Ensembl ENCODE 11.2 -118.9 -118886 3.7 ATF1 CREB3L1 ARID4B GLI4 ZNF2 GLIS2 KLF7 SP3 TSHZ1 REST INHBE RNU6-879P GLI1 LRP1 TSFM ARHGAP9 ENSG00000224713 R3HDM2 DCTN2 PTGES3
GH12G057279 1.3 Ensembl ENCODE 10.8 -179.8 -179814 2.1 HDGF PKNOX1 ATF1 ARID4B SIN3A GATA2 ZNF143 ZNF207 FOS ZHX2 SHMT2 NXPH4 INHBE GLI1 ARHGEF25 PIR33837 STAC3
GH12G057376 1 ENCODE 11.4 -82.9 -82930 1.5 HDGF ATF1 ARNT SIN3A TCF12 ZNF766 GATA2 KLF13 ZNF263 SP3 NEMP1 RNU6-879P INHBE GLI1 ARHGEF25 DDIT3 MBD6 MIR616 RNU6-343P RBMS2
GH12G057886 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5 +433.2 433161 13.7 HDGF PKNOX1 FOXA2 ZNF2 ZNF143 FOS SP3 JUNB REST TBX21 ATP23 EEF1AKMT3 CTDSP2 TSFM MIR26A2 AVIL RNU6-1083P MARCH9 LOC283387 GLI1
GH12G057319 0.7 ENCODE 11.2 -140.4 -140351 1.6 PKNOX1 RNF2 MIER1 ZMYM3 FOXA1 PRDM6 SMARCA4 GATA2 ADNP HMBOX1 ARHGAP9 RNU6-879P INHBE GLI1 MIR616 DDIT3 MBD6 MARS TSFM ENSG00000224713
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLI1 on UCSC Golden Path with GeneCards custom track

Promoters for GLI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000268620 -335 1601 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143
ENSR00000052665 1865 1601 PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF2 CBX5 ZNF143 FOS DEK

Genomic Location for GLI1 Gene

Chromosome:
12
Start:
57,460,135 bp from pter
End:
57,472,268 bp from pter
Size:
12,134 bases
Orientation:
Plus strand

Genomic View for GLI1 Gene

Genes around GLI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLI1 Gene

Proteins for GLI1 Gene

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

    Protein Symbol:
    P08151-GLI1_HUMAN
    Recommended name:
    Zinc finger protein GLI1
    Protein Accession:
    P08151
    Secondary Accessions:
    • D0EUY3
    • E9PQQ9
    • F5H6H8
    • Q8TDN9

    Protein attributes for GLI1 Gene

    Size:
    1106 amino acids
    Molecular mass:
    117904 Da
    Quaternary structure:
    • Interacts with KIF7 (By similarity). Interacts with STK36 (PubMed:10806483). Interacts with ZIC1; the interaction enhances transcription activation (PubMed:11238441). Interacts with SUFU; this inhibits transcriptional activation by GLI1 (PubMed:10806483, PubMed:24311597, PubMed:24217340).

    Three dimensional structures from OCA and Proteopedia for GLI1 Gene

    Alternative splice isoforms for GLI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLI1 Gene

Post-translational modifications for GLI1 Gene

No data available for DME Specific Peptides for GLI1 Gene

Domains & Families for GLI1 Gene

Gene Families for GLI1 Gene

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

P08151

UniProtKB/Swiss-Prot:

GLI1_HUMAN :
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
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 (PubMed:19706761, PubMed:10806483, PubMed:19878745, PubMed:24311597, PubMed:24217340). Binds to the DNA consensus sequence 5-GACCACCCA-3 (PubMed:2105456, PubMed:8378770, PubMed:24217340). May regulate the transcription of specific genes during normal development (PubMed:19706761). 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 (PubMed:19706761). Plays a role in cell proliferation and differentiation via its role in SHH signaling (Probable).
UniProtKB/Swiss-Prot Function:
Isoform 2: Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Mediates SHH signaling. Promotes cancer cell migration.
UniProtKB/Swiss-Prot Induction:
Isoform 1 and isoform 2 are amplified in glioblastoma cells.

Gene Ontology (GO) - Molecular Function for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 18298960
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA 9118802
GO:0003682 chromatin 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GLI1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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 (PubMed:10806483). Activation and translocation to the nucleus is promoted by interaction with STK36 (PubMed:10806483). Phosphorylation by ULK3 may promote nuclear localization (PubMed:19878745). Translocation to the nucleus is promoted by interaction with ZIC1 (PubMed:11238441). {ECO:0000269 PubMed:10806483, ECO:0000269 PubMed:11238441, ECO:0000269 PubMed:19878745}.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLI1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2

Gene Ontology (GO) - Cellular Components for GLI1 Gene

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

Pathways & Interactions for GLI1 Gene

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

SIGNOR curated interactions for GLI1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 12165851
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007224 smoothened signaling pathway IDA,TAS 11001584
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with GLI1: view

Drugs & Compounds for GLI1 Gene

(9) Drugs for GLI1 Gene - From: ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclopamine Pharma Hedgehog (Hh) signaling Inhibitor, Inhibitor of Hedgehog (Hh) signaling 0
GANT 58 Pharma GLI antagonist,novel and potent 0
GANT61 Pharma GLI antagonist, GLI antagonist; inhibits Hedgehog (Hh) signaling 0
20(S)-Hydroxycholesterol Pharma Allosteric activator of Hedgehog (Hh) signaling; induces Smo accumulation 0
AY 9944 dihydrochloride Pharma Hedgehog Inhibitor, Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase 0

(3) Additional Compounds for GLI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
Cyclopamine Inhibitor of Hedgehog (Hh) signaling 4449-51-8
SANT-1 Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity 304909-07-7
U 18666A Inhibitor of Hedgehog (Hh) signaling. Also inhibits cholesterol synthesis 3039-71-2

(2) ApexBio Compounds for GLI1 Gene

Compound Action Cas Number
GANT 58 GLI antagonist,novel and potent 64048-12-0
GANT61 GLI antagonist 500579-04-4
genes like me logo Genes that share compounds with GLI1: view

Drug Products

Transcripts for GLI1 Gene

Unigene Clusters for GLI1 Gene

GLI family zinc finger 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GLI1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GLI1 Gene

GeneLoc Exon Structure for
GLI1
ECgene alternative splicing isoforms for
GLI1

Expression for GLI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x9.7) and Cervix - Endocervix (x4.9).

Protein differential expression in normal tissues from HIPED for GLI1 Gene

This gene is overexpressed in Pancreatic juice (51.0) and Peripheral blood mononuclear cells (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLI1 Gene



Protein tissue co-expression partners for GLI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GLI1 Gene:

GLI1

SOURCE GeneReport for Unigene cluster for GLI1 Gene:

Hs.632702

mRNA Expression by UniProt/SwissProt for GLI1 Gene:

P08151-GLI1_HUMAN
Tissue specificity: Detected in testis (at protein level) (PubMed:2105456). Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract (PubMed:19878745). Isoform 1 is detected in brain, spleen, pancreas, liver, kidney and placenta; isoform 2 is not detectable in these tissues (PubMed:19706761).

Evidence on tissue expression from TISSUES for GLI1 Gene

  • Muscle(4.5)
  • Nervous system(2.4)
  • Skin(2)
genes like me logo Genes that share expression patterns with GLI1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GLI1 Gene

Orthologs for GLI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLI1 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia GLI1 34 35
  • 89.77 (n)
cow
(Bos Taurus)
Mammalia GLI1 34 35
  • 88.87 (n)
mouse
(Mus musculus)
Mammalia Gli1 34 16 35
  • 84.03 (n)
rat
(Rattus norvegicus)
Mammalia Gli1 34
  • 83.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 28 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 18 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GLI1 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLI1 35
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gli1 35
  • 36 (a)
OneToOne
-- 34
fruit fly
(Drosophila melanogaster)
Insecta ci 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ref-2 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for GLI1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for GLI1 (if available)
TreeFam:
Gene Tree for GLI1 (if available)

Paralogs for GLI1 Gene

Variants for GLI1 Gene

Sequence variations from dbSNP and Humsavar for GLI1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_035557 A breast cancer sample
VAR_035558 A breast cancer sample
VAR_035559 A breast cancer sample
rs193921005 Uncertain significance 57,465,251(+) AACTT(A/G)CCAGG reference, missense
rs1000032629 -- 57,471,809(+) GGTCC(C/T)GCCTT downstream-variant-500B, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv2651n54 CNV loss 21841781
esv2759901 CNV gain 17122850
nsv1143565 CNV deletion 24896259
nsv428283 CNV gain 18775914
nsv469411 CNV loss 19166990
nsv482992 CNV gain+loss 15286789
nsv559034 CNV loss 21841781
nsv559035 CNV loss 21841781
nsv8974 CNV gain 18304495
nsv952190 CNV deletion 24416366

Variation tolerance for GLI1 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.43; 90.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLI1 Gene

Human Gene Mutation Database (HGMD)
GLI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLI1

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

Disorders for GLI1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for GLI1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
basal cell carcinoma
  • basal cell cancer
necrobiosis lipoidica
granuloma annulare
  • granulome annulare
anal canal carcinoma
  • anal canal and perianal gland carcinoma
pallister-hall syndrome
  • hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- elite association - COSMIC cancer census association via MalaCards
Search GLI1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GLI1

Genetic Association Database (GAD)
GLI1
Human Genome Epidemiology (HuGE) Navigator
GLI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLI1
genes like me logo Genes that share disorders with GLI1: view

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

Publications for GLI1 Gene

  1. 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 22 64
  2. GLI1 genotypes do not predict basal cell carcinoma risk: a case control study. (PMID: 19948058) Watson A. … Walterhouse D.O. (Mol. Cancer 2009) 3 22 46 64
  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 22 64
  4. 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 22 46 64
  5. Physical and functional interactions between Zic and Gli proteins. (PMID: 11238441) Koyabu Y. … Mikoshiba K. (J. Biol. Chem. 2001) 3 4 22 64

Products for GLI1 Gene

Sources for GLI1 Gene

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