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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADARB1 Gene

protein-coding   GIFtS: 63
GCID: GC21P046493

adenosine deaminase, RNA-specific, B1

(Previous names: adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)...)
 Explore 20 diseases affiliated with
ADARB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ADARB1    

Aliases
for ADARB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Adenosine Deaminase, RNA-Specific, B11 2     ADAR2c1
RED11 2 3 5     ADAR2d1
ADAR21 2 3     ADAR2g1
DRADA21 2 3     HRED11
DRABA21 2     Human DsRNA Adenosine Deaminase DRADA2b, EC 3.511
Adenosine Deaminase, RNA-Specific, B1 (Homolog Of Rat RED1)1 2     Adenosine Deaminase, RNA-Specific, B1 (RED1 Homolog Rat)2
RNA-Editing Deaminase 12 3     Double-Stranded RNA-Specific Editase 12
RNA-Editing Enzyme 12 3     DsRNA Adenosine Deaminase DRADA22
ADAR2a1     RED1 Homolog2
ADAR2a-L11     RNA Editase2
ADAR2a-L21     RNA Editing Deaminase 12
ADAR2a-L31     EC 3.5.-.-3
ADAR2b1     DsRNA Adenosine Deaminase3

External Ids:    HGNC: 2261   Entrez Gene: 1042   Ensembl: ENSG000001973817   OMIM: 6012185   UniProtKB: P785633   
ORGUL members:         
NONCODE:n407960 n407959    

Export aliases for ADARB1 gene to outside databases

Previous GC identifers: GC21P043004 GC21P045351 GC21P045350 GC21P045318 GC21P031920


Summaries
for ADARB1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ADARB1:
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)

UniProtKB/Swiss-Prot: RED1_HUMAN, P78563
Function: 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 GRIK2) and serotonin
(HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts
encoding these proteins results in amino acid substitutions which consequently alter their functional activities.
Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently.
Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both
an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while
the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration
and can stimulate exocytosis

Gene Wiki entry for ADARB1


Genomic Views
for ADARB1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADARB1 gene promoter:
         CREB   p53   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ADARB1 promoter sequence

   Search SABiosciences Chromatin IP Primers for ADARB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADARB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
ADARB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADARB1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P046493:   GeneLoc Nature:405,311-319
Start:
 46,493,768 bp from pter       32,003,926 bp from centromere
End:
 46,646,478 bp from pter 32,155,953 bp from centromere
Size:
 152,711 bases 152,028 bases
Orientation:
 plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: U76421
genomic clones: R774F24 to Q26C4

Proteins
for ADARB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RED1_HUMAN, P78563 (See protein sequence)
Recommended Name: Double-stranded RNA-specific editase 1  
Size: 741 amino acids; 80763 Da
Cofactor: Binds 1 inositol hexakisphosphate (IP6) per subunit
Subunit: Homodimer. Homodimerization is essential for its catalytic activity. Can form heterodimers with isoform 5 of
ADAR/ADAR1
Subcellular location: Nucleus. Nucleus, nucleolus. Note=Shuttles between nucleoli and the nucleoplasm
1 PDB 3D structure from and Proteopedia for ADARB1:
1ZY7 (3D)    
Secondary accessions: A6NFK8 A6NJ84 C3TTQ1 O00395 O00465 O00691 O00692 P78555 Q4AE79 Q8NFD1
Alternative splicing: 5 isoforms:  P78563-1   P78563-2   P78563-3   P78563-4   P78563-5   (Incomplete sequence. Alternative 5'exon)

Explore the universe of human proteins at neXtProt for ADARB1: NX_P78563

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78563

    • ADARB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001103.1  NP_001153702.1  NP_056648.1  NP_056649.1  

    ENSEMBL proteins: 
     ENSP00000374511   ENSP00000436367   ENSP00000435381   ENSP00000374513   ENSP00000015877  
     ENSP00000387480   ENSP00000353920   ENSP00000441897   ENSP00000414600  
    Reactome Protein details: P78563
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 2): ADARB1
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    Novus Biologicals ADARB1 Proteins
    Novus Biologicals ADARB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ADARB1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA8995285
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA18178553


    ADARB1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ADARB1

    Protein Domains /
    Families
    for ADARB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ADARB1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR002466 A_deamin
     IPR001159 Ds-RNA-bd
     IPR008996 Cytokine_IL1-like
     IPR014720 dsRNA-bd-like_dom

    Graphical View of Domain Structure for InterPro Entry P78563

    ProtoNet protein and cluster: P78563

    2 Blocks protein families:
    IPB001159 Double-stranded RNA binding (DsRBD) domain
    IPB002466 Adenosine deaminase/editase


    UniProtKB/Swiss-Prot: RED1_HUMAN, P78563
    Similarity: Contains 1 A to I editase domain
    Similarity: Contains 2 DRBM (double-stranded RNA-binding) domains


    Function
    for ADARB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RED1_HUMAN, P78563
    Function: 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 GRIK2) and serotonin
    (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts
    encoding these proteins results in amino acid substitutions which consequently alter their functional activities.
    Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently.
    Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both
    an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while
    the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration
    and can stimulate exocytosis

    Enzyme Number (IUBMB): EC 3.5.-.-1

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADARB1
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate ADARB1 (see all 53):
    hsa-miR-548j hsa-miR-3685 hsa-miR-631 hsa-miR-146a hsa-miR-4272 hsa-miR-199a-3p hsa-miR-138-2* hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmid: ADARB1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADARB1 (see all 7)
    OriGene shRNA RFP: ADARB1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ADARB1

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA9111310
    GO:0003725double-stranded RNA binding IEA--
    GO:0003726double-stranded RNA adenosine deaminase activity IDA9149227
    GO:0003729mRNA binding TAS9149227
    GO:0004000adenosine deaminase activity IEA--


    ADARB1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ADARB1: Adarb1tm1.1Eme Adarb1tm1Phs
         7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Adarb1):
     behavior/neurological  growth/size  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal 

    ADARB1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ADARB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of editosomes by ADAR proteins
    		Formation of editosomes by ADAR proteins1.00
    		C6 deamination of adenosine1.00
    		mRNA Editing: A to I Conversion1.00
    		mRNA Editing0.50
    2ATP/ITP metabolism
    		ATP/ITP metabolism1.00
    		ATP/ITP metabolism0.98
    3mRNA Splicing - Major Pathway
    		mRNA Processing0.82
    4Generic Transcription Pathway
    		Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ADARB1
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for ADARB1
        ATP/ITP metabolism

    5/6        Reactome Pathways for ADARB1 (see all 6)
        C6 deamination of adenosine
    mRNA Editing
    mRNA Editing: A to I Conversion
    Gene Expression
    mRNA Processing



    ADARB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADARB1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for ADARB1 (P785632, 3 ENSP000003539204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIN1Q135262, 3, ENSP000002479704MINT-8298746 MINT-8299062 MINT-8299112 MINT-8298729 MINT-8299021 MINT-8299182 MINT-8299087 MINT-8298958 MINT-8299154 MINT-8299198 MINT-8299034 MINT-8298987 I2D: score=1 STRING: ENSP00000247970
    WWP2O003082, 3, ENSP000003482834MINT-8299276 MINT-8299218 MINT-8299255 MINT-8299302 MINT-8299234 I2D: score=1 STRING: ENSP00000348283
    MAP1LC3AQ9H4923, ENSP000003639704I2D: score=1 STRING: ENSP00000363970
    PPP2CBP627143, ENSP000002211384I2D: score=1 STRING: ENSP00000221138
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006382adenosine to inosine editing TAS--
    GO:0006396RNA processing IDA9149227
    GO:0006397mRNA processing IEA--
    GO:0008285negative regulation of cell proliferation IDA18178553
    GO:0010467gene expression TAS--


    ADARB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ADARB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADARB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADARB1
    6 Novoseek chemical compound relationships for ADARB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    red 2 93.9 3 10854777 (2), 10581403 (1)
    inosine 87.2 9 9614652 (1), 16257978 (1), 12665561 (1), 10376681 (1) (see all 8)
    glutamate 57.4 10 9143496 (3), 12459255 (1), 10581403 (1), 10854777 (1) (see all 7)
    cytidine 37.1 1 10376681 (1)
    arginine 35.1 3 19447293 (2), 9570943 (1)
    glutamine 34.7 2 19447293 (2)

    Search CenterWatch for drugs/clinical trials and news about ADARB1 / RED1 

    Transcripts
    for ADARB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ADARB1 gene (5 alternative transcripts): 
    NM_001033049.1  NM_001112.3  NM_001160230.1  NM_015833.3  NM_015834.3  

    Unigene Cluster for ADARB1:

    Adenosine deaminase, RNA-specific, B1
    Hs.474018  [show with all ESTs]
    Unigene Representative Sequence: NM_015833
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462214 ENST00000460734(uc002zgp.2) ENST00000389861(uc002zgs.2)
    ENST00000492414 ENST00000496664 ENST00000389863(uc011afo.1) ENST00000348831
    ENST00000449478 ENST00000464215 ENST00000360697 ENST00000481022 ENST00000539173(uc002zgr.2 uc002zgq.2 uc002zgu.2 uc002zgy.2 uc002zgw.2 uc002zgv.2 uc002zgt.2 uc010gpx.2)
    ENST00000437626

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    hsa-miR-548j hsa-miR-3685 hsa-miR-631 hsa-miR-146a hsa-miR-4272 hsa-miR-199a-3p hsa-miR-138-2* hsa-miR-218
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    Inhib. RNA
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    Primer
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    Additional cDNA sequence: 

    AB194369.1 AB194370.1 AB194371.1 AB194372.2 AB194373.1 AF001042.1 AF525422.1 AF533142.1 
    AK027227.1 AY135659.1 BC030663.1 BC046198.1 BC065545.1 FJ169506.1 NR_027672.1 NR_027673.1 
    NR_027674.1 NR_073200.1 U73197.1 U76420.1 U76421.1 U76422.1 U82120.1 U82121.1 
    X99227.1 X99383.1 

    21 DOTS entries:

    DT.100815682  DT.99943664  DT.100033794  DT.100815681  DT.121134249  DT.100815679  DT.455913  DT.100815678 
    DT.121134252  DT.121134268  DT.121134274  DT.97827563  DT.95334920  DT.95301641  DT.97820630  DT.121134237 
    DT.75169302  DT.95324847  DT.121134243  DT.427065  DT.97827562 

    24/172 AceView cDNA sequences (see all 172):

    U76422 BM718313 BQ955425 BQ437695 AA736984 AA580169 BF445406 AA565144 
    AI356850 BC046198 AA632253 AA026607 X99383 BQ430112 U82121 BU726292 
    NM_015833 U76421 BF515374 CA420663 AI523998 AW103327 U76420 AI276615 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for ADARB1 (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
    SP1:                    -     -     -     -           -     -     -     -     -     -                             -           -                                 
    SP2:                    -     -     -     -           -     -     -     -     -     -                             -           -                                 
    SP3:                    -     -     -     -           -     -           -     -     -                             -           -                       -         
    SP4:                    -     -     -     -           -     -     -     -     -     -                             -           -                       -         
    SP5:                    -     -     -     -           -     -     -     -     -     -                             -           -                       -         

    ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b
    SP1:                    -     -     -               
    SP2:                                -               
    SP3:                                -               
    SP4:                    -     -     -               
    SP5:                                -               


    ECgene alternative splicing isoforms for ADARB1

    Expression
    for ADARB1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADARB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGACGCTGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ADARB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Alveolar type II cells (Derivation of mature...)Lung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ADARB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADARB1

    SOURCE GeneReport for Unigene cluster: Hs.474018

    UniProtKB/Swiss-Prot: RED1_HUMAN, P78563
    Tissue specificity: Highly expressed in brain and heart and at lower levels in placenta. Fair expression in lung, liver
    and kidney. Detected in brain, heart, kidney, lung and liver (at protein level). Isoform 5 is high expressed in
    hippocampus and colon. Isoform 5 is expressed in pediatric astrocytomas and the protein has a decreased RNA-editing
    activity. The decrease in RNA editing correlates with the grade of malignancy of the tumors, with the high grade
    tumors showing lower editing is seen

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    Orthologs
    for ADARB1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ADARB1 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ADARB11 adenosine deaminase, RNA-specific, B1 78.35(n)
    84.26(a)    		   374087  NM_001111074.1  NP_001104544.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ADARB16
    		 --
    		 82(a)
    		 1 ↔ 1
    		 4(90601885-90630391)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.238292 Xenopus laevis transcribed sequence with moderate similarity more 72.67(n)    BU911149.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii adarb12 adenosine deaminase, RNA-specific, B1 75.89(n)   58134  AF403110.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Adar1 , 3 adenosine to inosine editing double-stranded
    RNA more3
    Adenosine deaminase acting on RNA1    		 44(a)3
    52.42(n)1
    50.08(a)1    		   1 2B93
    311301  NM_130584.31  NP_569940.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea adr-13
    adr-21    		 Expression: nervous system, vulva,
    gastrulating more3
    Protein ADR-21    		 30(a)3
    43.87(n)1
    33.63(a)1    		   III(7302919-7304628)3
    1760221  NM_066193.31  NP_498594.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G017606
    		 Adenosine-deaminase (editase) domain-containing pr...
    		 24(a)
    		 1 → many
    		 1(276266-278448)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 tRNA-specific adenosine deaminase 1, putative, exp...
    		 21(a)
    		 1 → many
    		 4(34707824-34713684)


    ENSEMBL Gene Tree for ADARB1 (if available)
    TreeFam Gene Tree for ADARB1 (if available) 

    Paralogs
    for ADARB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADARB1 gene
    ADAR2  ADARB22  ADAT12  ADAD22  ADAD12  
    5 SIMAP similar genes for ADARB1 using alignment to 5 protein entries:     RED1_HUMAN (see all proteins):
    ADAR2d    hRED1    RED1    ADARB2    ADAR

    ADARB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ADARB1
    PGOHUM00000241434


    Genomic Variants
    for ADARB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2731 NCBI SNPs in ADARB1 are shown (see all 2731)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs99837201,2
    		C--32016411(+) GCTGTG/TGGGGG 1 -- ut31 ese31Minor allele frequency- T:0.50NA 2
    rs1921978741,2
    		--46492507(+) CCACCA/CCGGGA 9 -- nc-transcript-variantus2k10--------
    rs28387701,2
    		C,F,O,H,--46492897(+) CACCAC/GGCAGT 9 -- nc-transcript-variantus2k119Minor allele frequency- N:0.00NA NS EA WA CSA 1435
    rs1451210691,2
    		--46492918(+) GGCAGC/TCTGCT 9 -- nc-transcript-variantus2k10--------
    rs9158141,2
    		C,F,A,H,--46493003(+) TACCAG/AGCTCC 9 -- nc-transcript-variantus2k19Minor allele frequency- A:0.30MN WA NA CSA EA 562
    rs1121131191,2
    		--46493076(+) TGCCCG/AGGCCA 9 -- nc-transcript-variantus2k11Minor allele frequency- A:0.50CSA 2
    rs287606011,2
    		C,F,--46493123(+) TCGCAC/AACCAC 9 -- nc-transcript-variantus2k17Minor allele frequency- A:0.34NA WA CSA EA 366
    rs575502461,2
    		C,F,--46493157(+) GACCCG/ACACCC 9 -- us2k13Minor allele frequency- A:0.14WA CSA 122
    rs1162147451,2
    		C,F,--46493207(+) ACAGTG/CTGCGC 9 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1422877881,2
    		--46493293(+) CCGCCC/TGAGGT 9 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADARB1 (46493768 - 46646478 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ADARB1
         2 Indels: 103114 46189
    Human Gene Mutation Database (HGMD): ADARB1

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    Disorders / Diseases
    for ADARB1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ADARB1 for disorders           About GeneDecksing

    OMIM gene information: 601218    OMIM disorders: --

    20 diseases for ADARB1:    About MalaCards
    anaplastic large cell lymphoma    bipolar affective disorder    amyotrophic lateral sclerosis    contact dermatitis
    lateral sclerosis    systemic lupus erythematosus    lupus erythematosus    pulmonary function
    down syndrome    malignant glioma    behcet's disease    hodgkin's lymphoma
    acne    dermatitis    astrocytoma    prostate cancer
    hepatitis    obesity    prostatitis    neuronitis

    6 Novoseek disease relationships for ADARB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis delta 53.5 2 11907222 (1), 8602246 (1)
    epilepsy 15.6 3 20424386 (1), 9143496 (1), 19156214 (1)
    genetic disorder 14 1 9143496 (1)
    bipolar disorder 12.8 2 9143496 (2)
    down syndrome 12.3 2 9330641 (1), 14757529 (1)
    neurological disorders 5.23 1 9143496 (1)

    Human Genome Epidemiology (HuGE) Navigator: ADARB1 (3 documents)

    Export disorders for ADARB1 gene to outside databases

    Publications
    for ADARB1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ADARB1 gene, integrated from 9 sources (see all 103):
    (articles sorted by number of sources associating them with ADARB1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. (PubMed id 9143496)1, 2, 3, 9 Mittaz L....Antonarakis S.E. (1997)
    2. Down-regulation of RNA editing in pediatric astrocytomas: ADAR2 editing activity inhibits cell migration and proliferation. (PubMed id 18178553)1, 2, 9 Cenci C....Gallo A. (2008)
    3. Novel exon of mammalian ADAR2 extends open reading frame. (PubMed id 19156214)1, 2, 9 Maas S. and Gommans W.M. (2009)
    4. Phylogenetic comparison of the pre-mRNA adenosine deaminase ADAR2 genes and transcripts: conservation and diversity in editing site sequence and alternative splicing patterns. (PubMed id 12459255)1, 2, 9 Slavov D. and Gardiner K. (2002)
    5. Novel splice variants of human ADAR2 mRNA: skipping of the exon encoding the dsRNA-binding domains, and multiple C-terminal splice sites. (PubMed id 16297572)1, 2, 9 Kawahara Y.... Kwak S. (2005)
    6. Two forms of human double-stranded RNA-specific editase 1 (hRED1) generated by the insertion of an Alu cassette. (PubMed id 9149227)1, 2, 9 Gerber A....Keller W. (1997)
    7. Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing. (PubMed id 16141067)1, 2, 9 Macbeth M.R....Bass B.L. (2005)
    8. Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases. (PubMed id 9111310)1, 2, 9 Lai F.... Nishikura K. (1997)
    9. Map location, genomic organization and expression patterns of the human RED1 RNA editase. (PubMed id 9330641)1, 2, 9 Villard L.... Gardiner K. (1997)
    10. ADAR2 editing enzyme is a novel human immunodeficienc y virus-1 proviral factor. (PubMed id 21289159)1, 2 Doria M....Gallo A. (2011)

    External Searches for ADARB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ADARB1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 104 HGNC: 226 AceView: ADARB1 Ensembl:ENSG00000197381 euGenes: HUgn104
    ECgene: ADARB1 H-InvDB: ADARB1

    Other Databases showing ADARB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ADARB1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADARB1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ADARB1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ADARB1 gene:
    Search GeneIP for patents involving ADARB1

    GeneCards and IP:
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