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FLASH GENE
Symbol ADARB1 contributors: mct/ - updated : 14-09-2012
HGNC name adenosine deaminase, RNA-specific, B1
HGNC id 226
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.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 151.96 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 ]
    Physical map
    LRRC3 21q22.3 leucine-rich repeat-containing 3 C21orf29 21q22.3 chromosome 21 open reading frame 29 C21orf90 21q22.1 chromosome 21 open reading frame 90 KRTAP10-10 21q22.3 keratin associated protein 10-10 KRTAP12-2 21q22.3 keratin associated protein 12-2 IMMTP 21q22.3 inner membrane protein, mitochondrial (mitofilin) pseudogene KRTAP12-1 21q22.3 keratin associated protein 12-1 UBE2G2 21q22.3 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) SMT3H1 21q22.3 SMT3 suppressor of mif two 3 homolog 1 (yeast) PTTG1IP 21q22.3 pituitary tumor-transforming 1 interacting protein ITGB2 21q22.3 integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) C21orf69 21q22.3 chromosome 21 open reading frame 69 C21orf67 21q22.3 chromosome 21 open reading frame 67 C21orf70 21q22.3 chromosome 21 open reading frame 70 LOC391283 21 similar to interspersed repeat antigen, putative C21orf122 21q22.3 chromosome 21 open reading frame 122 ADARB1 21q22.3 adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) C21orf89 21q22.1 chromosome 21 open reading frame 89 C21orf80 21q22.3 chromosome 21 open reading frame 80 C21orf86 21q22.1 chromosome 21 open reading frame 86 C21orf93 21q22.1 chromosome 21 open reading frame 93 LOC388830 21 similar to PRED59 COL18A1 21q22.3 collagen, type XVIII, alpha 1 LOC388831 21 LOC388831 SLC19A1 21q22.3 solute carrier family 19 (folate transporter), member 1 LOC388832 21 hypothetical gene supported by BC020585
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 7044 80.6 741 - 2007 17728516
    also called DRADA2b, RED1-Long
    11 - 6924 76.5 701 widely ; brain 2007 17728516
    also called ADAR2a-L1 or DRADA2a, hRED1-Short
    13 - 3605 78 714 widely ; brain 2007 17728516
  • also called DRADA2c
  • low activity
    • 12 splicing 3485 73.5 674 - 2007 17728516
  • also called ADAR2d
  • low activity
    • 12 - - - 790 expression tissue specific being highest in the cerebellum 2010 19156214
  • 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
    • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunetonsils   highly
    Nervousbrain     Homo sapiens
     nerve   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    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,nucleus,nucleoplasm
    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
    • 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
    • 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)
    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
    • Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS