GLI1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GLI1 |
| Official Name | GLI family zinc finger 1 [Source:HGNC Symbol;Acc:HGNC:4317] |
| Ensembl ID | ENSG00000111087 |
| Bio databases IDs | |
| Aliases | GLI family zinc finger 1 |
| Synonyms | GL1, GLI, GLI family zinc finger 1, GLI-Kruppel family member GLI1, PAPA8, PPD1, ZFP5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GLI1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 14-3-3 binding domain
- transcription regulator
- nuclear export signal
- DNA binding domain
- nucleic acid binding
- transcription activation domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- microtubule binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- Zinc-finger double domain
- SYGH motif
- zinc finger domain
Pathways
Biological processes and signaling networks where the GLI1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-small cell lung carcinoma
- non-small cell lung cancer
- psoriasis
- cancer
- bronchopulmonary dysplasia
- Ewing sarcoma
- chondrosarcoma
- osteosarcoma
- soft tissue sarcoma
- breast cancer
role in cell
- growth
- upregulation in
- survival
- expression in
- cell death
- apoptosis
- activation in
- phosphorylation in
- migration
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- ciliary tip
- Cytoplasm
- cilia
- Plasma Membrane
- basal bodies
- axonemes
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLI1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cardiac muscle cell proliferation
- positive regulation of cell proliferation
- response to wounding
- positive regulation of DNA replication
- positive regulation of transcription from RNA polymerase II promoter
- regulation of osteoblast differentiation
- proximal/distal pattern formation
- cerebellar cortex morphogenesis
- regulation of smoothened signaling pathway
- dorsal/ventral pattern formation
- positive regulation of transcription, DNA-dependent
- osteoblast differentiation
- lung development
- spermatid development
- notochord regression
- smoothened signaling pathway
- regulation of transcription, DNA-dependent
- digestive tract morphogenesis
- regulation of transcription from RNA polymerase II promoter
- pituitary gland development
- negative regulation of canonical Wnt receptor signaling pathway
- ventral midline development
- epidermal cell differentiation
- positive regulation of smoothened signaling pathway
- prostate gland development
- regulation of hepatocyte proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- axoneme
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- microtubule binding