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Aliases for ADAR Gene

Aliases for ADAR Gene

  • Adenosine Deaminase, RNA-Specific 2 3
  • DRADA 3 4 6
  • DSRAD 3 4 6
  • G1P1 3 4 6
  • IFI4 3 4 6
  • 136 KDa Double-Stranded RNA-Binding Protein 3 4
  • Interferon-Inducible Protein 4 3 4
  • Interferon-Induced Protein 4 2 3
  • K88DSRBP 3 4
  • ADAR1 3 4
  • IFI-4 3 4
  • P136 3 4
  • AGS6 3 6
  • DSH 3 6
  • Double-Stranded RNA-Specific Adenosine Deaminase 3
  • Adenosine Deaminase Acting On RNA 1-A 3
  • RNA-Specific Adenosine Deaminase 3
  • DsRNA Adenosine Deaminase 3
  • EC 3.5.4.37 4
  • EC 3.5.4 63

External Ids for ADAR Gene

Previous HGNC Symbols for ADAR Gene

  • IFI4
  • G1P1

Previous GeneCards Identifiers for ADAR Gene

  • GC01M152370
  • GC01M150285
  • GC01M151329
  • GC01M151772
  • GC01M151773
  • GC01M151367
  • GC01M152821
  • GC01M125917

Summaries for ADAR Gene

Entrez Gene Summary for ADAR Gene

  • This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

GeneCards Summary for ADAR Gene

ADAR (Adenosine Deaminase, RNA-Specific) is a Protein Coding gene. Diseases associated with ADAR include dyschromatosis symmetrica hereditaria and aicardi-goutieres syndrome 6. Among its related pathways are Translational Control and Interferon Signaling. GO annotations related to this gene include RNA binding and double-stranded RNA adenosine deaminase activity. An important paralog of this gene is ADARB2.

UniProtKB/Swiss-Prot for ADAR 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 serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.

Gene Wiki entry for ADAR Gene

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

Genomics for ADAR Gene

Regulatory Elements for ADAR Gene

Genomic Location for ADAR Gene

Start:
154,582,057 bp from pter
End:
154,627,999 bp from pter
Size:
45,943 bases
Orientation:
Minus strand

Genomic View for ADAR Gene

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

RefSeq DNA sequence for ADAR Gene

Proteins for ADAR Gene

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

    Protein Symbol:
    P55265-DSRAD_HUMAN
    Recommended name:
    Double-stranded RNA-specific adenosine deaminase
    Protein Accession:
    P55265
    Secondary Accessions:
    • B1AQQ9
    • B1AQR0
    • D3DV76
    • O15223
    • O43859
    • O43860
    • Q9BYM3
    • Q9BYM4

    Protein attributes for ADAR Gene

    Size:
    1226 amino acids
    Molecular mass:
    136066 Da
    Quaternary structure:
    • Homodimer. Homodimerization is essential for its catalytic activity. Isoform 5 can form heterodimers with ADARB1/ADAR2. Isoform 1 interacts with ILF2/NF45 and ILF3/NF90. Binding to ILF3/NF90 up-regulates ILF3-mediated gene expression. Isoform 5 (via DRBM 3 domain) interacts with TNPO1. Isoform 5 (via DRBM domains) interacts with XPO5. Isoform 1 and isoform 5 can interact with EIF2AK2/PKR and UPF1.
    SequenceCaution:
    • Sequence=CAE45853.1; Type=Erroneous termination; Positions=1227; Note=Translated as stop.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADAR Gene

    Alternative splice isoforms for ADAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAR Gene

Proteomics data for ADAR Gene at MOPED

Selected DME Specific Peptides for ADAR Gene

Post-translational modifications for ADAR Gene

Other Protein References for ADAR Gene

Domains for ADAR Gene

Graphical View of Domain Structure for InterPro Entry

P55265

UniProtKB/Swiss-Prot:

DSRAD_HUMAN :
  • P55265
Domain:
  • Contains 1 A to I editase domain.
  • Contains 3 DRBM (double-stranded RNA-binding) domains.
Similarity:
  • Contains 2 DRADA repeats.
genes like me logo Genes that share domains with ADAR: view

No data available for Gene Families for ADAR Gene

Function for ADAR Gene

Molecular function for ADAR 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 serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.
UniProtKB/Swiss-Prot Induction: Isoform 1 is induced by interferon alpha. Isoform 5 is constitutively expressed.

Enzyme Numbers (IUBMB) for ADAR Gene

Gene Ontology (GO) - Molecular Function for ADAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding --
GO:0003726 double-stranded RNA adenosine deaminase activity NAS 7565688
GO:0004000 adenosine deaminase activity --
GO:0005515 protein binding IPI 18362360
genes like me logo Genes that share ontologies with ADAR: view
genes like me logo Genes that share phenotypes with ADAR: view

Animal Models for ADAR Gene

MGI Knock Outs for ADAR:

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

Localization for ADAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAR Gene

Isoform 1: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and nucleus.
Isoform 5: Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Predominantly nuclear but can shuttle between nucleus and cytoplasm. TNPO1 can mediate its nuclear import whereas XPO1 can mediate its nuclear export.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADAR Gene COMPARTMENTS Subcellular localization image for ADAR gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ADAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 7565688
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm TAS 7565688
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ADAR: view

Pathways for ADAR Gene

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

Pathways by source for ADAR Gene

1 Cell Signaling Technology pathway for ADAR Gene
3 KEGG pathways for ADAR Gene
1 GeneGo (Thomson Reuters) pathway for ADAR Gene

Gene Ontology (GO) - Biological Process for ADAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0002566 somatic diversification of immune receptors via somatic mutation IEA --
GO:0006382 adenosine to inosine editing TAS --
genes like me logo Genes that share ontologies with ADAR: view

Compounds for ADAR Gene

(11) Novoseek inferred chemical compound relationships for ADAR Gene

Compound -log(P) Hits PubMed IDs
inosine 90.1 25
red 2 86.3 1
guanosine 51.8 1
glutamate 50 18
cytidine 47.6 4
genes like me logo Genes that share compounds with ADAR: view

Transcripts for ADAR Gene

Unigene Clusters for ADAR Gene

Adenosine deaminase, RNA-specific:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ·
SP1: - -
SP2: -
SP3: - - - - -
SP4: -
SP5: -
SP6:
SP7: - - - - -
SP8: - - - -
SP9: - - -
SP10:
SP11: - -
SP12: - - - - -
SP13:

ExUns: 18c ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b ^ 22a · 22b ^ 23
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ADAR Gene

GeneLoc Exon Structure for
ADAR
ECgene alternative splicing isoforms for
ADAR

Expression for ADAR Gene

mRNA expression in normal human tissues for ADAR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

SOURCE GeneReport for Unigene cluster for ADAR Gene Hs.12341

mRNA Expression by UniProt/SwissProt for ADAR Gene

P55265-DSRAD_HUMAN
Tissue specificity: Ubiquitously expressed, highest levels were found in brain and lung. Isoform 5 is expressed at higher levels in astrocytomas as compared to normal brain tissue and expression increases strikingly with the severity of the tumor, being higher in the most aggressive tumors.
genes like me logo Genes that share expressions with ADAR: view

No data available for mRNA differential expression in normal tissues for ADAR Gene

Orthologs for ADAR Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAR 35
  • 99.71 (n)
  • 99.68 (a)
ADAR 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADAR 35
  • 87.01 (n)
  • 85.12 (a)
ADAR 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAR 35
  • 82.95 (n)
  • 82.41 (a)
ADAR 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adar 35
  • 81.76 (n)
  • 80.09 (a)
Adar 16
Adar 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADAR 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAR 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adar 35
  • 82.24 (n)
  • 80.05 (a)
chicken
(Gallus gallus)
Aves ADAR 35
  • 62.87 (n)
  • 59.47 (a)
ADAR 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAR 36
  • 36 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia adar-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia adar 35
  • 57.73 (n)
  • 54.42 (a)
Str.3278 35
zebrafish
(Danio rerio)
Actinopterygii adar 35
  • 54.91 (n)
  • 49.81 (a)
adar 36
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea adr-1 37
  • 34 (a)
Species with no ortholog for ADAR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ADAR Gene

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

Paralogs for ADAR Gene

Paralogs for ADAR Gene

Selected SIMAP similar genes for ADAR Gene using alignment to 6 proteins:

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

Variants for ADAR Gene

Sequence variations from dbSNP and Humsavar for ADAR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9616 -- 154,583,257(-) GGTGA(A/T)GGCTG utr-variant-3-prime
rs14002 -- 154,582,474(-) CCCCT(A/C/T)TGAGT utr-variant-3-prime
rs16361 -- 154,584,286(-) CAAAG(-/AG)GTGAA utr-variant-3-prime
rs884617 -- 154,628,522(-) AAATG(C/T)GAAAA upstream-variant-2KB
rs884618 -- 154,628,681(-) cataa(C/T)ggatt upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv521887 CNV Gain 19592680
esv2658585 CNV Deletion 23128226
nsv470740 CNV Gain 18288195
nsv464050 CNV Gain 19166990
esv32568 CNV Loss 17666407
esv33703 CNV Loss 17666407
esv33112 CNV Gain 17666407

Relevant External Links for ADAR Gene

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

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

Disorders for ADAR Gene

(2) OMIM Diseases for ADAR Gene (146920)

UniProtKB/Swiss-Prot

DSRAD_HUMAN
  • Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood. {ECO:0000269 PubMed:12916015, ECO:0000269 PubMed:15146470, ECO:0000269 PubMed:15659327}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269 PubMed:23001123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ADAR Gene

(9) Novoseek inferred disease relationships for ADAR Gene

Disease -log(P) Hits PubMed IDs
dyschromatosis symmetrica hereditaria 97.7 26
hepatitis delta 52.9 2
teratocarcinoma 32.5 2
skin diseases 31.9 1
virus infection 12.4 5

Relevant External Links for ADAR

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

Publications for ADAR Gene

  1. Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing. (PMID: 7972084) Kim U. … Nishikura K. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 23
  2. Functionally distinct double-stranded RNA-binding domains associated with alternative splice site variants of the interferon-inducible double-stranded RNA-specific adenosine deaminase. (PMID: 9020165) Liu Y. … Samuel C.E. (J. Biol. Chem. 1997) 3 4 23
  3. Human RNA-specific adenosine deaminase ADAR1 transcripts possess alternative exon 1 structures that initiate from different promoters, one constitutively active and the other interferon inducible. (PMID: 10200312) George C.X. … Samuel C.E. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  4. Dynamic association of RNA-editing enzymes with the nucleolus. (PMID: 12665561) Desterro J.M.P. … Carmo-Fonseca M. (J. Cell Sci. 2003) 3 4 23
  5. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. (PMID: 12916015) Miyamura Y. … Tomita Y. (Am. J. Hum. Genet. 2003) 3 4 23

Products for ADAR Gene

  • Addgene plasmids for ADAR

Sources for ADAR Gene

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