GLIS3 Gene Summary [Human]
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GLIS3 |
| Official Name | GLIS family zinc finger 3 [Source:HGNC Symbol;Acc:HGNC:28510] |
| Ensembl ID | ENSG00000107249 |
| Bio databases IDs | |
| Aliases | GLIS family zinc finger 3, Gli-similar 3 |
| Synonyms | 4833409N03RIK, E330013K21Rik, GLIS family zinc finger 3, LOC102556263, LOC687614, NDH, NEWGENE 1565505, RGD1565505, ZNF515 |
| 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 GLIS3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- Zinc-finger double domain
- protein binding
- zinc finger domain
- PL/PXY motif
- sequence-specific DNA binding
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- knee osteoarthritis
- COVID-19
- diabetes mellitus
- chronic obstructive pulmonary disease
- neonatal diabetes and congenital hypothyroidism
- primary angle-closure glaucoma
- non-insulin-dependent diabetes mellitus
- hypothyroidism
- growth failure
role in cell
- expression in
- apoptosis
- activation in
- proliferation
- accumulation in
- inhibition in
- quantity
- number
- differentiation
- abnormal morphology
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
- cilia
- primary cilia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLIS3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity