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Aliases for ADARB1 Gene

Aliases for ADARB1 Gene

  • Adenosine Deaminase, RNA-Specific, B1 2 3
  • RED1 3 4 6
  • Adenosine Deaminase, RNA-Specific, B1 (Homolog Of Rat RED1) 2 3
  • RNA-Editing Deaminase 1 3 4
  • RNA-Editing Enzyme 1 3 4
  • DRADA2 3 4
  • ADAR2 3 4
  • Adenosine Deaminase, RNA-Specific, B1 (RED1 Homolog Rat) 3
  • Double-Stranded RNA-Specific Editase 1 3
  • DsRNA Adenosine Deaminase DRADA2 3
  • DsRNA Adenosine Deaminase 4
  • RNA Editing Deaminase 1 3
  • RED1 Homolog (Rat) 2
  • RED1 Homolog 3
  • RNA Editase 3
  • EC 3.5.4.37 4
  • DRABA2 3

External Ids for ADARB1 Gene

Summaries for ADARB1 Gene

Entrez Gene Summary for ADARB1 Gene

  • 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]

GeneCards Summary for ADARB1 Gene

ADARB1 (Adenosine Deaminase, RNA-Specific, B1) is a Protein Coding gene. Among its related pathways are Gene Expression and Purine metabolism (KEGG). GO annotations related to this gene include RNA binding and double-stranded RNA binding. An important paralog of this gene is ADARB2.

UniProtKB/Swiss-Prot for ADARB1 Gene

  • 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 5UTR 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADARB1 Gene

Genomics for ADARB1 Gene

Genomic Location for ADARB1 Gene

Start:
45,073,853 bp from pter
End:
45,226,563 bp from pter
Size:
152,711 bases
Orientation:
Plus strand

Genomic View for ADARB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADARB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADARB1 Gene

Regulatory Elements for ADARB1 Gene

Transcription factor binding sites by QIAGEN in the ADARB1 gene promoter:

Proteins for ADARB1 Gene

  • Protein details for ADARB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78563-RED1_HUMAN
    Recommended name:
    Double-stranded RNA-specific editase 1
    Protein Accession:
    P78563
    Secondary Accessions:
    • A6NFK8
    • A6NJ84
    • C3TTQ1
    • C3TTQ2
    • C9JUP4
    • G5E9B4
    • O00395
    • O00465
    • O00691
    • O00692
    • P78555
    • Q4AE77
    • Q4AE79
    • Q6P0M9
    • Q8NFA1
    • Q8NFD1

    Protein attributes for ADARB1 Gene

    Size:
    741 amino acids
    Molecular mass:
    80763 Da
    Cofactor:
    Name=1D-myo-inositol hexakisphosphate; Xref=ChEBI:CHEBI:58130; Note=Binds 1 myo-inositol hexakisphosphate (IP6) per subunit.;
    Quaternary structure:
    • Homodimer. Homodimerization is essential for its catalytic activity. Can form heterodimers with isoform 5 of ADAR/ADAR1.
    SequenceCaution:
    • Sequence=ACN49027.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADARB1 Gene

    Alternative splice isoforms for ADARB1 Gene

neXtProt entry for ADARB1 Gene

Proteomics data for ADARB1 Gene at MOPED

Post-translational modifications for ADARB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADARB1 Gene

Domains for ADARB1 Gene

UniProtKB/Swiss-Prot:

RED1_HUMAN
Domain:
  • Contains 1 A to I editase domain.:
    • P78563
  • Contains 2 DRBM (double-stranded RNA-binding) domains.:
    • P78563
genes like me logo Genes that share domains with ADARB1: view

No data available for Gene Families for ADARB1 Gene

Function for ADARB1 Gene

Molecular function for ADARB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Adenine in double-stranded RNA + H(2)O = hypoxanthine in double-stranded RNA + NH(3).
UniProtKB/Swiss-Prot 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 5UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis.

Enzyme Numbers (IUBMB) for ADARB1 Gene

Gene Ontology (GO) - Molecular Function for ADARB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 9111310
GO:0003725 double-stranded RNA binding IDA 8995285
GO:0003726 double-stranded RNA adenosine deaminase activity IDA 8995285
GO:0003729 mRNA binding TAS 9149227
GO:0004000 adenosine deaminase activity IEA --
genes like me logo Genes that share ontologies with ADARB1: view
genes like me logo Genes that share phenotypes with ADARB1: view

Animal Models for ADARB1 Gene

MGI Knock Outs for ADARB1:

No data available for Transcription Factor Targeting and HOMER Transcription for ADARB1 Gene

Localization for ADARB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADARB1 Gene

Nucleus. Nucleus, nucleolus. Note=Shuttles between nucleoli and the nucleoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADARB1 Gene COMPARTMENTS Subcellular localization image for ADARB1 gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ADARB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 8995285
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 18178553
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ADARB1: view

Pathways for ADARB1 Gene

genes like me logo Genes that share pathways with ADARB1: view

Pathways by source for ADARB1 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ADARB1 Gene

Gene Ontology (GO) - Biological Process for ADARB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006382 adenosine to inosine editing TAS --
GO:0006396 RNA processing IDA 9149227
GO:0006397 mRNA processing IEA --
GO:0008285 negative regulation of cell proliferation IDA 18178553
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with ADARB1: view

Compounds for ADARB1 Gene

(6) Novoseek inferred chemical compound relationships for ADARB1 Gene

Compound -log(P) Hits PubMed IDs
red 2 93.9 3
inosine 87.2 8
glutamate 57.4 9
cytidine 37.1 1
arginine 35.1 3
genes like me logo Genes that share compounds with ADARB1: view

Transcripts for ADARB1 Gene

Unigene Clusters for ADARB1 Gene

Adenosine deaminase, RNA-specific, B1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADARB1 Gene

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: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - -
SP9: -
SP10: - - - - - - - -
SP11:
SP12: - - - - - -
SP13:
SP14:

ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b
SP1: - - -
SP2: -
SP3: -
SP4: - - -
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -

Relevant External Links for ADARB1 Gene

GeneLoc Exon Structure for
ADARB1
ECgene alternative splicing isoforms for
ADARB1

Expression for ADARB1 Gene

mRNA expression in normal human tissues for ADARB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADARB1 Gene

This gene is overexpressed in Artery - Tibial (6.2), Esophagus - Gastroesophageal Junction (4.1), and Esophagus - Muscularis (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADARB1 Gene

SOURCE GeneReport for Unigene cluster for ADARB1 Gene Hs.474018

mRNA Expression by UniProt/SwissProt for ADARB1 Gene

P78563-RED1_HUMAN
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.
genes like me logo Genes that share expressions with ADARB1: view

Orthologs for ADARB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADARB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADARB1 36
  • 99.9 (n)
  • 99.86 (a)
ADARB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADARB1 36
  • 84.78 (n)
  • 92.72 (a)
ADARB1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADARB1 36
  • 86.02 (n)
  • 93.58 (a)
ADARB1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adarb1 36
  • 87.73 (n)
  • 94.86 (a)
Adarb1 16
Adarb1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADARB1 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adarb1 36
  • 87.59 (n)
  • 95.15 (a)
chicken
(Gallus gallus)
Aves ADARB1 36
  • 78.3 (n)
  • 84.12 (a)
ADARB1 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADARB1 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23829 36
tropical clawed frog
(Silurana tropicalis)
Amphibia adarb1 36
  • 72.08 (n)
  • 81.32 (a)
zebrafish
(Danio rerio)
Actinopterygii adarb1 36
adarb1a 37
  • 71 (a)
OneToMany
adarb1b 37
  • 79 (a)
OneToMany
LOC558759 36
  • 72.53 (n)
  • 79.08 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000185 36
  • 54.18 (n)
  • 50.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta Adar 36
  • 52.22 (n)
  • 49.67 (a)
Adar 37
  • 47 (a)
OneToMany
Adar 38
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea adr-2 36
  • 42.87 (n)
  • 32.88 (a)
adr-1 38
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAD1 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 41 (a)
OneToMany
Species with no ortholog for ADARB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADARB1 Gene

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

Paralogs for ADARB1 Gene

Paralogs for ADARB1 Gene

Selected SIMAP similar genes for ADARB1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ADARB1 Gene

genes like me logo Genes that share paralogs with ADARB1: view

Variants for ADARB1 Gene

Sequence variations from dbSNP and Humsavar for ADARB1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs6487 -- 45,225,071(+) TTCTG(-/TTGTT)TTGTT utr-variant-3-prime, intron-variant
rs365791 -- 45,167,622(+) GGCAC(A/G)TCCCT intron-variant
rs366235 -- 45,115,245(+) TGCCA(A/G)TGACC intron-variant
rs367228 -- 45,098,493(+) CGTCC(C/T)GACCT intron-variant
rs367986 -- 45,168,189(+) tttgt(A/T)tattt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADARB1 Gene

Variant ID Type Subtype PubMed ID
nsv834110 CNV Loss 17160897
nsv3541 CNV Loss 18451855
esv2723714 CNV Deletion 23290073
esv2043847 CNV Deletion 18987734
nsv187318 CNV Loss 16902084
esv2723715 CNV Deletion 23290073
esv995257 CNV Deletion 20482838
esv1612638 CNV Deletion 17803354
nsv522002 CNV Gain 19592680
esv999386 CNV Deletion 20482838
nsv187447 CNV Insertion 16902084
esv2723716 CNV Deletion 23290073
esv2213161 CNV Deletion 18987734
esv998882 CNV Deletion 20482838
esv1361921 CNV Deletion 17803354
esv2723718 CNV Deletion 23290073
esv2723719 CNV Deletion 23290073
nsv187030 CNV Loss 16902084
dgv4784n71 CNV Loss 21882294
nsv509802 CNV Insertion 20534489
esv2483147 CNV Insertion 19546169
nsv513577 CNV Insertion 21212237
esv1049502 CNV Insertion 17803354

Relevant External Links for ADARB1 Gene

HapMap Linkage Disequilibrium report
ADARB1
Human Gene Mutation Database (HGMD)
ADARB1

Disorders for ADARB1 Gene

(6) Novoseek inferred disease relationships for ADARB1 Gene

Disease -log(P) Hits PubMed IDs
hepatitis delta 53.5 2
epilepsy 15.6 3
genetic disorder 14 1
bipolar disorder 12.8 2
down syndrome 12.3 2

Relevant External Links for ADARB1

Genetic Association Database (GAD)
ADARB1
Human Genome Epidemiology (HuGE) Navigator
ADARB1
genes like me logo Genes that share disorders with ADARB1: view

No data available for UniProtKB/Swiss-Prot for ADARB1 Gene

Publications for ADARB1 Gene

  1. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. (PMID: 9143496) Mittaz L. … Antonarakis S.E. (Genomics 1997) 2 3 4 23
  2. Two forms of human double-stranded RNA-specific editase 1 (hRED1) generated by the insertion of an Alu cassette. (PMID: 9149227) Gerber A. … Keller W. (RNA 1997) 3 4 23
  3. Phylogenetic comparison of the pre-mRNA adenosine deaminase ADAR2 genes and transcripts: conservation and diversity in editing site sequence and alternative splicing patterns. (PMID: 12459255) Slavov D. … Gardiner K. (Gene 2002) 3 4 23
  4. Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing. (PMID: 16141067) Macbeth M.R. … Bass B.L. (Science 2005) 3 4 23
  5. Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases. (PMID: 9111310) Lai F. … Nishikura K. (Mol. Cell. Biol. 1997) 3 4 23

Products for ADARB1 Gene

Sources for ADARB1 Gene

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