GTF2IRD1 Gene Summary [Human]
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | GTF2IRD1 |
| Official Name | GTF2I repeat domain containing 1 [Source:HGNC Symbol;Acc:HGNC:4661] |
| Ensembl ID | ENSG00000006704 |
| Bio databases IDs | |
| Aliases | GTF2I repeat domain containing 1, binding factor for early enhancer |
| Synonyms | 1700012P16Rik, BEN, CREAM1, ESTM9, general transcription factor II I repeat domain-containing 1, Gtf2il, GTF2I repeat domain containing 1, GTF3, hMusTRD1alpha1, LOC100912262, MUSTRD1, RBAP2, TFII-IRD1, Tg(Alb1-Myc)166.8Sst, WBS, WBSCR11, WBSCR12 |
| 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 GTF2IRD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- polyserine repeat
- nucleic acid binding
- double-stranded DNA binding
- nuclear localization sequence
- leucine zipper domain
- helix-loop-helix domain
- protein binding
- sequence-specific DNA binding
- GTF2I-like repeat
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- early-onset schizophrenia
- hyperactive behavior
- colorectal adenoma
- colorectal adenoma formation
- neuroticism
- major depression
- epidermal hyperplasia
role in cell
- expression in
- transactivation in
- function
- response
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
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GTF2IRD1 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
- regulation of transcription, DNA-dependent
- transcription from RNA polymerase II promoter
- transition between slow and fast fiber
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein 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 negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity