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FLASH GENE
Symbol ADARB1 contributors: mct/ - updated : 22-10-2020
HGNC name adenosine deaminase, RNA-specific, B1
HGNC id 226
Corresponding disease
NEDHYMS neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Location 21q22.3      Physical location : 46.494.492 - 46.646.478
Synonym name
  • adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)
  • double stranded RNA editase 1
  • human dsRNA adenosine deaminase DRADA2b
  • adenosine deaminase acting on RNA type2a
  • RNA-editing enzyme 1
    • Synonym symbol(s) RED1, ACARB1, ADAR2, DRABA2, DRADA2, ADAR2a, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2b, ADAR2c, ADAR2d
    EC.number 3.5.4.37
    DNA
    TYPE functioning gene
    STRUCTURE 151.98 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - D21S266 - D21S198 - MX2 - MX1 - D21S212 - D21S49 - D21S1225 - CBS - PKNOX1 - D21S1259 - D21S1261 - D21S25 - PFKL PFKL - [D21S171 - UBE2G2 - D21S1903 - SUMO3 - ITGB2 - D21S1897 - ADARB1 - POFUT2 - COL18A1 - SLC19A1 - COL6A1 - COL6A2 - D21S1446 ] - D21S1575 - qter
    Text [KNO ]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 7044 80.6 741 - 2005 16297572
    also called DRADA2b, RED1-Long
    11 - 6924 76.5 701 widely ; brain 2005 16297572
    also called ADAR2a-L1 or DRADA2a, hRED1-Short
    13 - 3605 78 714 widely ; brain 2005 16297572
  • also called DRADA2c
  • low activity
    • 12 splicing 3485 73.5 674 - 2005 16297572
  • also called ADAR2d
  • low activity
    • 12 - - - 790 expression tissue specific being highest in the cerebellum 2005 16297572
  • utilization of an exon located 18 kilobases upstream of the previously annotated first coding exon
  • the 49 AA extension harbors a sequence motif that is closely related to the R-domain of ADAR3 where it has been shown to function as a basic, single-stranded RNA binding domain
    • 12 - 3352 - 733 - 2005 16297572
    12 - 3317 - 674 - 2005 16297572
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Nervousbrain     Homo sapiens
     nerve   highly
    Reproductivemale systemtestis    Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    ReproductiveSertoli cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text during forebrain development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nuclear localization signal (NLS)
  • two dsRNA binding motifs (DRBM), that serve differential roles in RNA dimerization and GluR2 Q/R editing
  • an intragenic Alu-related sequence
    • HOMOLOGY
    interspecies ortholog to Drosophila Adar
    Homologene
    FAMILY
  • ADAR family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • double stranded RNA editase 1, editing deaminase of glutamate receptor, subunit B by site specific deamination of adenosines
  • catalyze the hydrolytic deamination of adenosine to inosine and thereby change the sequence of specific mRNAs with highly double-stranded structures
  • molecular link between reduced ADARB1 activity and TARDBP pathology
  • in addition to its structural role in the synaptonemal complex (SC), is a crucial coordinator of meiosis by coupling checkpoint signaling to SC formation
  • functions as a downstream effector of 9-1-1 in the meiotic DNA damage surveillance pathway
  • catalyse conversion of adenosine to inosine in dsRNA
  • potential novel role of ADARB1 as a viral regulator
  • ADARB1 and ADAR have evolved highly conserved, distinct functions
  • catalyses the deamination of adenosine to inosine at the GluR2 Q/R site in the pre-mRNA encoding the critical subunit of AMPA receptors
  • catalyzes circadian A-to-I editing and regulates RNA rhythm
  • is likely a mediator of injury-induced tactile allodynia
  • ADARB1 mediates likely A-to-I RNA editing in the testis
  • ADAR coordinates with ADARB1 to regulate editing and stability of Cat2 transcribed nuclear RNA (Ctn RNA)
  • is essential for the recoding of brain transcripts
    • CELLULAR PROCESS protein, editing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of large nuclear ribonucleoprotein particles
  • structural component of the synaptonemal complex
  • endogenous ADAR can form heterodimers with ADARB1 in astrocytes (
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • large nuclear ribonucleoproteins
  • phosphorylation-dependent prolyl-isomerase PIN1 interacts with ADARB1 and is a positive regulator required for the nuclear localization and stability of ADARB1
  • WWP2 plays a negative role by binding to ADARB1 and catalysing its ubiquitination and subsequent degradation
  • MAPK8 serves as a crucial component in mediating glucose-responsive upregulation of ADAR2 expression in pancreatic beta-cells
  • like ADARB1, underlying sequences in dsRNA may influence how ILF3 recognizes its target RNAs
  • ELAVL1 and PARN destabilize Cat2 transcribed nuclear RNA (Ctn RNA) in absence of ADARB1, indicating that ADAR2 stabilizes Ctn RNA by antagonizing its degradation by PARN and ELAVL1
  • KPNA3, which increases during neuronal maturation, interacts with ADARB1 and contributes to the editing efficiency by bringing it into the nucleus
  • DAP3 mainly interacts with the deaminase domain of ADARB1 and represses editing via disrupting association of ADARB1 with its target transcripts
    • cell & other
  • interacts with two subunits of the 9-1-1 checkpoint complex via two distinct 9-1-1 subunit-specific motifs
    • REGULATION
    Other its protein levels and catalytic activity are coordinately regulated in a positive manner by PIN1 and negatively by WWP2 and this may have downstream effects on the function of GRIA2
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDHYMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    is a profound pathological change relevant to death of motor neurons in Amyotrophic lateral sclerosis (
    constitutional       loss of function
    loss of ADARB1 activity causes AMPA receptor-mediated death of motor neurons
    tumoral     --low  
    in astrocytoma, decrease in ADARB1 editing activity that seems to correlate with the grade of malignancy in children
    tumoral       loss of function
    transcripts with exon 5a, which generate an ADARB1 isoform with ~50p 100 reduced activity, were predominantlyexpressed in the glioma cell lines, whereas transcripts without exon 5a were predominantly expressed in normal human astrocytes
    constitutional     --low  
    ADAR2-reduction is associated with progressive deterioration of nuclear architecture, resulting in vacuolated nuclei due to a Ca(2+)-permeable AMPA receptor-mediated mechanism
    Susceptibility
    Variant & Polymorphism other
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    potential therapeutic target for the treatment of neuropathic pain
    cancerbrain 
    ADARB1 or its substrates may represent a suitable target(s) for possible novel, more effective and less toxic approaches to the treatment of
    ANIMAL & CELL MODELS