GLI1 Gene (Protein Coding)

GLI Family Zinc Finger 1

GC12P057460
GIFtS:
48
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 b... See more...

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
  • Zinc Finger Protein GLI1 3 4
  • 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
  • PAPA8 3
  • PPD1 3
  • GLI1 5

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 Polydactyly, Postaxial, Type A8 and Polydactyly, Preaxial I. Among its related pathways are G-Beta Gamma Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include chromatin binding and microtubule binding. An important paralog of this gene is GLI2.

UniProtKB/Swiss-Prot Summary 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). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays 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, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407).
  • [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

Additional gene information for GLI1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLI1 Gene

Genomics for GLI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GLI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLI1

Top Transcription factor binding sites by QIAGEN in the GLI1 gene promoter:
  • c-Myb
  • NF-1
  • Nkx2-5
  • p53
  • Sp1
  • STAT5A

Genomic Locations for GLI1 Gene

Latest Assembly
chr12:57,459,785-57,472,451
(GRCh38/hg38)
Size:
12,667 bases
Orientation:
Plus strand

Previous Assembly
chr12:57,853,568-57,866,051
(GRCh37/hg19 by Entrez Gene)
Size:
12,484 bases
Orientation:
Plus strand

chr12:57,853,918-57,866,045
(GRCh37/hg19 by Ensembl)
Size:
12,128 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 Structure • Gene Density

RefSeq DNA sequence for GLI1 Gene

Proteins for GLI1 Gene

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  • 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, PubMed:28965847).
    Miscellaneous:
    • [Isoform 2]: Undetectable in normal cells but highly expressed in cancer cells.

    Three dimensional structures from OCA and Proteopedia for GLI1 Gene

    Alternative splice isoforms for GLI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLI1 Gene

Protein Expression for GLI1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GLI1 Gene

Other Protein References for GLI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for GLI1

No data available for DME Specific Peptides for GLI1 Gene

Domains & Families for GLI1 Gene

Gene Families for GLI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GLI1 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature

Suggested Antigen Peptide Sequences for GLI1 Gene

GenScript: Design optimal peptide antigens:
  • Oncogene GLI (GLI1_HUMAN)

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

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  6. Cell Lines for research

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). Regulates the transcription of specific genes during normal development (PubMed:19706761). Plays 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, PubMed:28973407). Plays a role in cell proliferation and differentiation via its role in SHH signaling (PubMed:11238441, PubMed:28973407).
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.

Phenotypes From GWAS Catalog for GLI1 Gene

Gene Ontology (GO) - Molecular Function for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 17035233
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 18298960
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IDA 9118802
genes like me logo Genes that share ontologies with GLI1: view
genes like me logo Genes that share phenotypes with GLI1: view

Human Phenotype Ontology for GLI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLI1 Gene

MGI Knock Outs for GLI1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLI1

No data available for Enzyme Numbers (IUBMB) , 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 4
plasma membrane 3
extracellular 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 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

Pathways by source for GLI1 Gene

1 GeneGo (Thomson Reuters) pathway for GLI1 Gene
  • Development_Hedgehog and PTH signaling pathways in bone and cartilage development
5 Qiagen pathways for GLI1 Gene
  • Activation of PKA through GPCR
  • CRHR Pathway
  • Hedgehog Signaling in Mammals
  • Molecular Mechanisms of Cancer
  • PKA Signaling
1 Cell Signaling Technology pathway for GLI1 Gene

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:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007224 smoothened signaling pathway TAS 11001584
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with GLI1: view

Drugs & Compounds for GLI1 Gene

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(8) 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 0
20(S)-Hydroxycholesterol Pharma Allosteric activator of Hedgehog (Hh) signaling; induces Smo accumulation 0
Jervine Pharma Hedgehog signaling Inhibitor, Inhibitor of Hedgehog (Hh) signaling; binds directly to Smo 0

(4) 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
Cyclopamine Inhibitor of Hedgehog (Hh) signaling 4449-51-8
Jervine Inhibitor of Hedgehog (Hh) signaling; binds directly to Smo 469-59-0
SANT-1 Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity 304909-07-7
SANT-2 Inhibitor of Hedgehog (Hh) signaling; antagonizes smoothened activity 329196-48-7

(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 for research

Transcripts for GLI1 Gene

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mRNA/cDNA for GLI1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLI1

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

No ASD Table

Relevant External Links for GLI1 Gene

GeneLoc Exon Structure for
GLI1

Expression for GLI1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLI1 Gene

mRNA expression in normal human tissues for GLI1 Gene
mRNA expression by BioGPS for GLI1 GenemRNA expression by GTEx 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 and MOPED for GLI1 Gene



Protein tissue co-expression partners for GLI1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Nervous system(2.8)
  • Liver(2.4)
  • Skin(2.4)
  • Intestine(2.2)
  • Pancreas(2.2)
  • Bone(2.2)
  • Kidney(2.2)
  • Eye(2.2)
  • Blood(2.1)
  • Stomach(2.1)
  • Heart(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with GLI1: view

Primer products for research

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 29 30
  • 99.52 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GLI1 29 30
  • 89.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GLI1 29 30
  • 88.87 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gli1 29 16 30
  • 84.03 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gli1 29
  • 83.88 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 28 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 18 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves GLI1 30
  • 62 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GLI1 30
  • 44 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii gli1 30
  • 36 (a)
 OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
 Insecta ci 30
  • 20 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea ref-2 30
  • 32 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 20 (a)
 OneToMany
Species where no ortholog for GLI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GLI1: view image
Alliance of Genome Resources:
Additional Orthologs for GLI1

Paralogs for GLI1 Gene

Paralogs for GLI1 Gene

(35) SIMAP similar genes for GLI1 Gene using alignment to 6 proteins:

  • GLI1_HUMAN
  • B1Q2M2_HUMAN
  • E9PIB9_HUMAN
  • E9PQQ1_HUMAN
  • F5H6H8_HUMAN
  • T2HQN2_HUMAN
genes like me logo Genes that share paralogs with GLI1: view

Variants for GLI1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLI1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1032306 Uncertain Significance: Polydactyly, postaxial, type A8 57,471,800(+) AG/A
NM_005269.3(GLI1):c.3065del (p.Gly1022fs) 		FRAMESHIFT
918147 Likely Pathogenic: not specified 57,470,531(+) AG/A
NM_005269.3(GLI1):c.1796del (p.Gly599fs) 		FRAMESHIFT
929772 Uncertain Significance: Premature ovarian failure 57,470,967(+) T/C
NM_005269.3(GLI1):c.2227T>C (p.Tyr743His) 		MISSENSE
982420 Likely Pathogenic: Polydactyly, postaxial, type A8 57,467,405(+) A/T
NM_005269.3(GLI1):c.985A>T (p.Lys329Ter) 		NONSENSE
rs114543757 Benign: not provided 57,468,130(+) G/A
NM_005269.3(GLI1):c.1214G>A (p.Arg405Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GLI1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GLI1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GLI1 Gene

MalaCards: The human disease database

(59) MalaCards diseases for GLI1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GLI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLI1_HUMAN
  • Polydactyly, postaxial, A8 (PAPA8) [MIM:618123]: A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. {ECO:0000269 PubMed:28973407}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Polydactyly, preaxial 1 (PPD1) [MIM:174400]: A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. {ECO:0000269 PubMed:30620395}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for GLI1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GLI1: view

No data available for Genatlas for GLI1 Gene

Publications for GLI1 Gene

  1. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. (PMID: 28973407) Palencia-Campos A ā€¦ Ruiz-Perez VL (Human molecular genetics 2017) 3 4 72
  2. Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. (PMID: 20081843) Canettieri G ā€¦ Gulino A (Nature cell biology 2010) 3 4 22
  3. A novel splice variant of GLI1 that promotes glioblastoma cell migration and invasion. (PMID: 19706761) Lo HW ā€¦ Ali-Osman F (Cancer research 2009) 3 4 22
  4. GLI1 genotypes do not predict basal cell carcinoma risk: a case control study. (PMID: 19948058) Watson A ā€¦ Walterhouse DO (Molecular cancer 2009) 3 22 40
  5. Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathways. (PMID: 19071955) Lees CW ā€¦ Satsangi J (PLoS medicine 2008) 3 22 40

ExternalLinks

View latest publications for GLI1 gene in Mastermind

Products for GLI1 Gene

  • Addgene plasmids for GLI1

Sources for GLI1 Gene