RAI1 Gene Summary [Human]
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RAI1 |
| Official Name | retinoic acid induced 1 [Source:HGNC Symbol;Acc:HGNC:9834] |
| Ensembl ID | ENSG00000108557 |
| Bio databases IDs | |
| Aliases | retinoic acid induced 1 |
| Synonyms | DOM3, Gt1, retinoic acid induced 1, SMCR, SMS |
| 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 RAI1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- transcription regulator
- PHD-like zinc-binding domain
- PHD finger superfamily
- protein binding
- PHD-zinc-finger like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- coronary artery disease
- epithelial cancer
- COVID-19
- schizophrenia
- Smith-Magenis syndrome
- obesity
- prostatic carcinoma
- prostate cancer
- epithelial basal cell carcinoma
role in cell
- density
- excitability
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAI1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of multicellular organism growth
- circadian regulation of gene expression
- skeletal system development
- positive regulation of transcription, DNA-dependent
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding