GTF2I Gene Summary [Human]
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | GTF2I |
| Official Name | general transcription factor IIi [Source:HGNC Symbol;Acc:HGNC:4659] |
| Ensembl ID | ENSG00000263001 |
| Bio databases IDs | |
| Aliases | general transcription factor IIi |
| Synonyms | 6030441I21RIK, BAP-135, BTKAP1, DIWS, Diws1t, general transcription factor II, general transcription factor II I, GTF21, Gtf2ird1, GTFII-I, IB291, LOC732437, SPIN, TFII-I, WBS, WBSCR6 |
| 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 GTF2I 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
- nuclear localization sequence
- transcription factor binding
- Src phosphorylation site
- leucine zipper domain
- protein binding
- basic domain
- polyproline motif
- GTF2I-like repeat
- phosphorylation site
Pathways
Biological processes and signaling networks where the GTF2I 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
- essential hypertension
- heart failure
- angioimmunoblastic T-cell lymphoma
- peripheral T-cell lymphoma
- Sjögren syndrome
- systemic lupus erythematosus
- Waldenström macroglobulinemia
- Crohn disease
- cardiovascular disorder
- atrial fibrillation
role in cell
- expression in
- production in
- activation in
- growth
- S phase
- transformation
- transcription in
- motility
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
- detergent resistant lipid raft fraction
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GTF2I gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity