ADARB1 Gene Summary [Human]
This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | ADARB1 |
| Official Name | adenosine deaminase RNA specific B1 [Source:HGNC Symbol;Acc:HGNC:226] |
| Ensembl ID | ENSG00000197381 |
| Bio databases IDs | |
| Aliases | adenosine deaminase RNA specific B1, RED1 homolog (rat) |
| Synonyms | 1700057H01Rik, ADAR2, ADAR2b, adenosine deaminase RNA specific B1, adenosine deaminase, RNA-specific, B1, D10Bwg0447e, DRABA2, DRADA2, LOC102723476, NEDHYMS, RED1 |
| 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 ADARB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Double-stranded RNA binding motif
- mRNA binding
- double-stranded RNA adenosine deaminase
- double-stranded RNA binding motif (DSRM) superfamily
- double-stranded RNA binding
- enzyme
- protein binding
- identical protein binding
- Adenosine-deaminase (editase) domain
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glioma formation
- oligodendroglioma
- systemic lupus erythematosus
- hyperleptinemia
- hyperphagia
- metabolic syndrome X
- hyperglycemia
- major depression
- non-insulin-dependent diabetes mellitus
- neurodevelopmental disorder with hypotonia, microcephaly, and seizures
role in cell
- expression in
- cell death
- replication in
- proliferation
- migration
- apoptosis
- cell cycle progression
- activation
- assembly
- editing in
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
- cytosol
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADARB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hypoglossal nerve morphogenesis
- multicellular organism growth
- neuromuscular synaptic transmission
- negative regulation of cell proliferation
- innervation
- adenosine to inosine editing
- muscle tissue morphogenesis
- facial nerve morphogenesis
- negative regulation of protein kinase activity by regulation of protein phosphorylation
- RNA processing
- mRNA processing
- spinal cord ventral commissure morphogenesis
- neuromuscular process controlling posture
- motor neuron apoptotic process
- innate immune response
- defense response to virus
- regulation of cell cycle
- positive regulation of viral genome replication
- base conversion or substitution editing
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- synapse
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- double-stranded RNA binding
- metal ion binding
- double-stranded RNA adenosine deaminase activity
- tRNA-specific adenosine deaminase activity
- mRNA binding