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Aliases for ADARB1 Gene

Aliases for ADARB1 Gene

  • Adenosine Deaminase, RNA Specific B1 2 3
  • 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
  • RED1 3 4
  • Adenosine Deaminase, RNA-Specific, B1 (RED1 Homolog Rat) 3
  • Adenosine Deaminase, RNA-Specific, B1 5
  • 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

Previous GeneCards Identifiers for ADARB1 Gene

  • GC21P043004
  • GC21P045351
  • GC21P045350
  • GC21P045318
  • GC21P046493
  • GC21P031920

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. Diseases associated with ADARB1 include alk-negative anaplastic large cell lymphoma and dyschromatosis symmetrica hereditaria. Among its related pathways are C6 deamination of adenosine and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and mRNA 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

Regulatory Elements for ADARB1 Gene

Promoters for ADARB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADARB1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ADARB1 Gene

Chromosome:
21
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

Genes around ADARB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADARB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADARB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADARB1 Gene

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;
    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

Antibody Products

No data available for DME Specific Peptides for ADARB1 Gene

Domains & Families for ADARB1 Gene

Graphical View of Domain Structure for InterPro Entry

P78563

UniProtKB/Swiss-Prot:

RED1_HUMAN :
  • Contains 1 A to I editase domain.
Domain:
  • Contains 1 A to I editase domain.
  • Contains 2 DRBM (double-stranded RNA-binding) domains.
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
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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 2

No data available for Gene Ontology (GO) - Cellular Components for ADARB1 Gene

Pathways & Interactions for ADARB1 Gene

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

Pathways by source 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:0044387 negative regulation of protein kinase activity by regulation of protein phosphorylation IDA 21289159
GO:0051607 defense response to virus IEA --
GO:0051726 regulation of cell cycle IDA 18178553
genes like me logo Genes that share ontologies with ADARB1: view

No data available for SIGNOR curated interactions for ADARB1 Gene

Drugs & Compounds for ADARB1 Gene

(4) Drugs for ADARB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ADARB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x6.2), Esophagus - Gastroesophageal Junction (x4.1), and Esophagus - Muscularis (x4.0).

Protein differential expression in normal tissues from HIPED for ADARB1 Gene

This gene is overexpressed in Retina (13.2), Blymphocyte (9.2), Prostate (8.9), Peripheral blood mononuclear cells (7.8), Urinary Bladder (6.2), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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 expression patterns with ADARB1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for ADARB1 Gene

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 35
  • 99.9 (n)
  • 99.86 (a)
ADARB1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADARB1 36
  • 90 (a)
OneToOne
ADARB1 35
  • 84.78 (n)
  • 92.72 (a)
dog
(Canis familiaris)
Mammalia ADARB1 35
  • 86.02 (n)
  • 93.58 (a)
ADARB1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adarb1 36
  • 94 (a)
OneToOne
Adarb1 16
Adarb1 35
  • 87.73 (n)
  • 94.86 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ADARB1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adarb1 35
  • 87.59 (n)
  • 95.15 (a)
chicken
(Gallus gallus)
Aves ADARB1 36
  • 85 (a)
OneToOne
ADARB1 35
  • 78.3 (n)
  • 84.12 (a)
lizard
(Anolis carolinensis)
Reptilia ADARB1 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23829 35
tropical clawed frog
(Silurana tropicalis)
Amphibia adarb1 35
  • 72.08 (n)
  • 81.32 (a)
zebrafish
(Danio rerio)
Actinopterygii adarb1a 36
  • 71 (a)
OneToMany
adarb1b 36
  • 79 (a)
OneToMany
adarb1 35
LOC558759 35
  • 72.53 (n)
  • 79.08 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000185 35
  • 54.18 (n)
  • 50.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta Adar 36
  • 47 (a)
OneToMany
Adar 37
  • 44 (a)
Adar 35
  • 52.22 (n)
  • 49.67 (a)
worm
(Caenorhabditis elegans)
Secernentea adr-2 35
  • 42.87 (n)
  • 32.88 (a)
adr-1 37
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAD1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(5) 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
rs199697177 - 45,176,372(+) CCCTG(C/T)CTTAC intron-variant, nc-transcript-variant, reference, missense
rs6487 -- 45,225,071(+) TTCTG(-/TTGTT)TTGTT intron-variant, utr-variant-3-prime
rs390504 -- 45,111,030(+) TCAGG(A/G)TCTAC intron-variant
rs394608 -- 45,161,883(+) cagga(C/T)gacct intron-variant
rs394872 -- 45,162,185(+) agtga(C/T)gcccc 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

Variation tolerance for ADARB1 Gene

Residual Variation Intolerance Score: 5.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADARB1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADARB1 Gene

Disorders for ADARB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADARB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alk-negative anaplastic large cell lymphoma
  • alk- alcl
dyschromatosis symmetrica hereditaria
  • reticulate acropigmentation of dohi
spindle cell hemangioma
  • sch
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADARB1

Genetic Association Database (GAD)
ADARB1
Human Genome Epidemiology (HuGE) Navigator
ADARB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADARB1
genes like me logo Genes that share disorders with ADARB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Novel exon of mammalian ADAR2 extends open reading frame. (PMID: 19156214) Maas S. … Gommans W.M. (PLoS ONE 2009) 3 23
  3. Matching active site and substrate structures for an RNA editing reaction. (PMID: 19642681) Pokharel S. … Beal P.A. (J. Am. Chem. Soc. 2009) 3 23
  4. Down-regulation of RNA editing in pediatric astrocytomas: ADAR2 editing activity inhibits cell migration and proliferation. (PMID: 18178553) Cenci C. … Gallo A. (J. Biol. Chem. 2008) 3 23
  5. Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing. (PMID: 16141067) Macbeth M.R. … Bass B.L. (Science 2005) 3 23

Products for ADARB1 Gene

Sources for ADARB1 Gene

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