GLI3 Gene Summary [Human]
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GLI3 |
| Official Name | GLI family zinc finger 3 [Source:HGNC Symbol;Acc:HGNC:4319] |
| Ensembl ID | ENSG00000106571 |
| Bio databases IDs | |
| Aliases | GLI family zinc finger 3, zinc finger protein GLI3, oncogene GLI3, DNA-binding protein |
| Synonyms | ACLS, add, Bph, GCPS, GLI3-190, GLI3FL, GLI family zinc finger 3, GLI-Kruppel family member GLI3, PAP-A, PAPA1, PAPB, Pdn, PHS, PPDIV, Xt |
| 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 GLI3 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
- zinc finger DNA binding domain
- transcription regulator
- nucleic acid binding
- beta-catenin binding
- histone deacetylase binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- transcription repression domain
- binding protein
- processing determinant domain
- double-stranded DNA binding
- Zinc-finger double domain
- SYGH motif
- zinc finger domain
- Pka phosphorylation site
- transcription factor activity
- histone acetyltransferase binding
Pathways
Biological processes and signaling networks where the GLI3 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
- prostate cancer
- age-related macular degeneration
- postaxial polydactyly type B
- GLI3-related disorder
- postaxial polydactyly type A1
- pallister-hall syndrome
- Greig cephalopolysyndactyly syndrome
- ulcerative colitis
- postaxial polydactyly type A1/B
- acute myeloid leukemia
role in cell
- differentiation
- proliferation
- apoptosis
- migration
- cellular infiltration by
- cell death
- accumulation
- expression in
- quantity
- activation in
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
- motile cilia
- intracellular membrane-bounded organelle
- ciliary tip
- Cytoplasm
- cilia
- axonemes
- cytosol
- nucleoplasm
- nucleoli
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLI3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- frontal suture morphogenesis
- lambdoid suture morphogenesis
- anterior/posterior pattern specification
- nose morphogenesis
- forebrain dorsal/ventral pattern formation
- axon guidance
- embryonic digestive tract morphogenesis
- tongue development
- artery development
- sagittal suture morphogenesis
- proximal/distal pattern formation
- embryonic digit morphogenesis
- optic nerve morphogenesis
- neuroblast proliferation
- embryonic digestive tract development
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- in utero embryonic development
- thymocyte apoptotic process
- mammary gland specification
- positive regulation of protein import into nucleus
- smoothened signaling pathway
- positive regulation of neuroblast proliferation
- cell differentiation involved in kidney development
- anterior semicircular canal development
- forebrain radial glial cell differentiation
- smoothened signaling pathway involved in dorsal/ventral neural tube patterning
- lateral semicircular canal development
- negative regulation of stem cell proliferation
- protein import into nucleus
- limb morphogenesis
- protein processing
- negative thymic T cell selection
- negative regulation of alpha-beta T cell differentiation
- layer formation in cerebral cortex
- palate development
- chondrocyte differentiation
- negative regulation of neuron differentiation
- smoothened signaling pathway involved in ventral spinal cord interneuron specification
- smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
- odontogenesis of dentin-containing tooth
- alpha-beta T cell differentiation
- positive regulation of osteoblast differentiation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of alpha-beta T cell differentiation
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- stem cell proliferation
- osteoblast differentiation
- lung development
- oligodendrocyte differentiation
- T cell differentiation in thymus
- embryonic neurocranium morphogenesis
- regulation of transcription, DNA-dependent
- lateral ganglionic eminence cell proliferation
- hippocampus development
- hindgut morphogenesis
- developmental growth
- negative regulation of smoothened signaling pathway
- regulation of transcription from RNA polymerase II promoter
- negative regulation of canonical Wnt receptor signaling pathway
- melanocyte differentiation
- camera-type eye morphogenesis
- metanephros development
- branching involved in ureteric bud morphogenesis
- negative regulation of apoptotic process
- negative regulation of chondrocyte differentiation
- positive regulation of chondrocyte differentiation
- vocalization behavior
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- transcriptional repressor complex
- nuclear speck
- intracellular membrane-bounded organelle
- cilium
- cytosol
- nucleolus
- axoneme
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone acetyltransferase binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- histone deacetylase binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- mediator complex binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- beta-catenin binding
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity