Mouse Anti-ADAR Recombinant Antibody (V2-6085) (CBMAB-0030CQ)

Adenosine Deaminase, RNA Specific

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. Double-stranded RNA-specific adenosine deaminase (DSRAD), or RNA-specific adenosine deaminase (ADAR), was identified as a developmentally regulated dsRNA unwinding activity in early antisense experiments with Xenopus oocytes (Bass and Weintraub, 1988). Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants.

Adenosine Deaminase, RNA-Specific; 136 KDa Double-Stranded RNA-Binding Protein; Interferon-Inducible Protein 4; Interferon-Induced Protein 4; K88DSRBP; ADAR1; DRADA; DSRAD; IFI-4; P136; G1P1; IFI4; Adenosine Deaminase Acting On RNA 1-A; DsRNA Adenosine Deaminase; EC 3.5.4.37; EC 3.5.4; AGS6; DSH

Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5'UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.

Adenosine to inosine editing
Base conversion or substitution editing
Cellular response to virus
Defense response to virus
Definitive hemopoiesis
Erythrocyte differentiation
Hematopoietic progenitor cell differentiation
Hematopoietic stem cell homeostasis
Innate immune response
miRNA loading onto RISC involved in gene silencing by miRNA
mRNA processing
Negative regulation of apoptotic process
Negative regulation of protein kinase activity by regulation of protein phosphorylation
Negative regulation of RNA interference
Negative regulation of type I interferon-mediated signaling pathway
Osteoblast differentiation
Positive regulation of viral genome replication
Pre-miRNA processing
Protein export from nucleus
Protein import into nucleus
Response to interferon-alpha
Response to virus
RNA processing
Somatic diversification of immune receptors via somatic mutation
Type I interferon signaling pathway

Isoform 1: Nucleus; Cytoplasm. Shuttles between the cytoplasm and nucleus. Nuclear import is mediated by TNPO1.
Isoform 5: Nucleus; Nucleolus; Cytoplasm. Predominantly nuclear but can shuttle between nucleus and cytoplasm. TNPO1 can mediate its nuclear import whereas XPO5 can mediate its nuclear export.

Dyschromatosis symmetrica hereditaria (DSH): An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood.
Aicardi-Goutieres syndrome 6 (AGS6): A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

Sumoylation reduces RNA-editing activity.