GLI1
GeneName
GLI1
Summary
GLI1, also known as GLI or Gli-1, is a 118 kDa transcription factor that plays a pivotal role in the Hedgehog signalling pathway. It is primarily localised in the nucleus but can also be found in the cytoplasm and associated with ciliary structures. GLI1 binds to chromatin and DNA, functioning as a transcriptional activator for RNA polymerase II, thereby regulating the expression of target genes involved in various developmental processes. It is implicated in morphogenetic events such as cerebellar cortex morphogenesis, lung development, and liver regeneration, and is known to influence cell differentiation and proliferation in multiple tissues, including the epidermis and prostate gland.
Importance
GLI1 is relevant to: - Developmental biology, as it orchestrates key processes in tissue morphogenesis and organ development. - Cancer research, particularly in tumours with aberrant Hedgehog signalling, where GLI1 may drive oncogenic pathways. - Regenerative medicine, due to its role in cellular proliferation and differentiation, which could be harnessed for therapeutic strategies. - Understanding congenital disorders linked to disrupted Hedgehog signalling, providing insights into mechanisms underlying these conditions.
Top Products
For researchers investigating GLI1, we highly recommend the top-selling recombinant antibody, Anti-Gli1 antibody [EPR4523] (ab134906). This antibody has been validated in knockout models, ensuring its reliability for your experiments. It is particularly effective in Western blotting (WB), making it an excellent choice for those looking to study GLI1 expression. With 42 citations, this antibody has garnered significant attention in the research community, reflecting its trusted performance and utility in various studies.
Abcam Product Citation Summary
The data indicates that the GLI1 target is being investigated in the context of various human cancers, particularly colorectal and breast cancer. The use of western blotting suggests a focus on protein expression levels, which may provide insights into the role of GLI1 in cancer progression and the Hedgehog signalling pathway.
Abcam Product Citation Table
Function
Acts as a transcriptional activator (PubMed:10806483, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:8378770). 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.
Involvement in disease
Polydactyly, postaxial, A8
PAPA8
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Polydactyly, preaxial 1
PPD1
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.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated in vitro by ULK3.
Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1.
Ubiquitinated by the CRL2(FEM1B) complex, suppressing GLI1 transcriptional activator activity.
Sequence Similarities
Belongs to the GLI C2H2-type zinc-finger protein family.
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).
Cellular localization
- Cytoplasm
- Nucleus
- 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).
- Isoform 2
- Cytoplasm
- Nucleus
Alternative names
GLI, GLI1, Zinc finger protein GLI1, Glioma-associated oncogene, Oncogene GLI
Database links
swissprot:P08151 omim:165220 entrezGene:2735
Other research areas
- Immuno-oncology