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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]
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 Development_Hedgehog and PTH signaling pathways in bone and cartilage development 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.
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.
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 | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 10806483 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IDA | 10504446 |
GO:0005829 | cytosol | TAS | -- |
GO:0005929 | cilium | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Hedgehog | ||
2 | Activation of cAMP-Dependent PKA |
Activation of PKA through GPCR
.71
|
PKA Signaling
.56
|
3 | G-Beta Gamma Signaling |
CRHR Pathway
.44
|
Hedgehog Signaling in Mammals
.32
|
4 | Hedgehog Signaling Pathway (WikiPathways) | ||
5 | Wnt / Hedgehog / Notch |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001649 | osteoblast differentiation | IDA | 12165851 |
GO:0007224 | smoothened signaling pathway | TAS | 11001584 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0007418 | ventral midline development | IEA | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GLI1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GLI1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GLI1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gli1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gli1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | GLI1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GLI1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | gli1 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | ci 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ref-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715808 | Likely Benign: not provided | 57,464,842(+) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
725547 | Benign: not provided | 57,464,770(+) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
726113 | Likely Benign: not provided | 57,465,841(+) | G/A | SYNONYMOUS_VARIANT | |
730133 | Benign: not provided | 57,465,224(+) | C/G | MISSENSE_VARIANT | |
753306 | Likely Benign: not provided | 57,470,558(+) | A/G | SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polydactyly, postaxial, type a8 |
|
|
polydactyly, preaxial i |
|
|
ellis-van creveld syndrome |
|
|
polydactyly, postaxial, type a1 |
|
|
pallister-hall syndrome |
|