ADAR Gene Summary [Human]
This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Details
| Type | Retained Intron |
| Official Symbol | ADAR |
| Official Name | adenosine deaminase RNA specific [Source:HGNC Symbol;Acc:HGNC:225] |
| Ensembl ID | ENSG00000160710 |
| Bio databases IDs | |
| Aliases | adenosine deaminase RNA specific |
| Synonyms | ADAR1, ADAR1-L, adenosine deaminase RNA specific, adenosine deaminase, RNA-specific, AGS6, DRADA, DSH, DSRAD, dsRNA-specific AdD, G1P1, IFI-4, K88DSRBP, mZaADAR, P136 |
| 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 ADAR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nuclear export signal
- DNA binding domain
- RNA recognition motif
- double-stranded RNA binding motif (DSRM) superfamily
- Zbeta domain
- enzyme
- protein binding
- Zab domain
- Adenosine deaminase z-alpha domain
- Z-DNA-binding domain
- Double-stranded RNA binding motif
- left-handed Z-DNA binding
- double-stranded RNA adenosine deaminase
- cyclic amidine carbon-nitrogen bond hydrolase
- dsRNA-binding domain
- Adenosine-deaminase (editase) domain
Pathways
Biological processes and signaling networks where the ADAR 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
- Alzheimer disease
- psoriasis
- epithelial cancer
- systemic lupus erythematosus
- neoplasia
- heart failure
- hepatocellular carcinoma
- liver cancer
- bleeding
- gastric epithelial cancer
role in cell
- phosphorylation in
- activation in
- molecular cleavage in
- expression in
- induction in
- quantity
- apoptosis
- proliferation
- migration
- differentiation
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
- Mitochondria
- cytosol
- spliceosomes
- nucleoplasm
- nucleoli
- nuclear speckles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADAR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pre-miRNA processing
- adenosine to inosine editing
- negative regulation of protein kinase activity by regulation of protein phosphorylation
- negative regulation of type I interferon-mediated signaling pathway
- RNA processing
- mRNA processing
- response to virus
- negative regulation of RNA interference
- hemopoietic progenitor cell differentiation
- hepatocyte apoptotic process
- definitive hemopoiesis
- somatic diversification of immune receptors via somatic mutation
- erythrocyte differentiation
- innate immune response
- osteoblast differentiation
- defense response to virus
- base conversion or substitution editing
- small RNA loading onto RISC
- response to interferon-alpha
- positive regulation of viral genome replication
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- membrane
- supraspliceosomal complex
- cytosol
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA binding
- protein binding
- double-stranded RNA binding
- metal ion binding
- double-stranded RNA adenosine deaminase activity
- tRNA-specific adenosine deaminase activity