EDK Editome Disease Knowledgebase

  1. Home
  2. Enzyme
  3. ADAR1

Basic Information

Enzyme ADAR1
Full Name Adenosine deaminase, RNA specific
Location Chr1:154582057..154631560
Ensembl ENSG00000160710
Aliases AGS6;DRADA;DSH;DSRAD;G1P1;IFI-4;IFI4;K88DSRBP;P136

Disease Related Information

Disease Species Regulator Expression/Aberrance Target Target Function Regulation Editing-Level Relationship Correlation Editing Effect Phenotype Editing-Dependent PMID
Breast Cancer Human NA Silence STAT1 The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors. The expression of STAT1 and the 389 genes is associated with ADAR expression, suggesting that increased editing is part of a broader type I interferon response related to the chronic inflammatory state in cancer. NA Correlated Positive ADAR silencing in breast cancer cell lines causes less cell proliferation and more apoptosis. Promote tumor proliferation Yes
Esophageal Squamous Cell Carcinoma Human NA Increase AZIN1;FLNB AZIN1: Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. The wild-type AZIN1 could promote the tumorigenicity. Due to the overexpression of ADAR1 in ESCC tumors, the editing frequencies of AZIN1 and FLNB is significantly higher than those in non-tumor specimens. Increased Correlated Positive The overexpression of ADAR1 accelerates growth rate and increases migrative and invasive capabilities. Promote tumor migration and invasion Yes
Leukemia Human NA Increase NA NA The expression of P110 in leukemia group increases dramatically. Increased Correlated Not determined The expression of P 110 affects the risk of pediatric leukemias. Affect the risk of leukemia Yes
Leukemia Human NA Decrease NA NA The expression of P150 in leukemia group decreases stably. Decreased Correlated Not determined The expression of P 150 affects the risk of pediatric leukemias. Affect the risk of leukemia Yes
Melanoma Human CREB Decrease NA NA The ADAR1 enzyme is transcriptionally regulated by cAMP-responsive element binding (CREB) in highly metastatic melanoma cell lines. Decreased Correlated Positive Decreased expression ADAR1 contributes to melanoma metastasis. Promote tumor metastasis Yes
Sepsis Human IFNs Increase NA NA ADAR1-L （p150） is induced by interferon IFNs and viral infections. Increased Causative Positive ADAR1 causes antiviral and proviral effects by manipulating viral RNAs，also promotes viral replication by interacting directly with PKR to suppress its kinase activity. Promote virus replication Yes
Chronic Myeloid Leukemia Human IFNs Increase NA NA Increased IFN-γ pathway gene expression enhances expression of ADAR1 p150 isoform and a propensity for increased RNA editing Increased Causative Positive ADAR1 p150 promotes expression of the myeloid transcription factor PU.1 and induces malignant reprogramming of myeloid progenitors. Promote tumor progression Yes
Lung Cancer Human NA Increase NEIL1;miR-381 NEIL1: NEIL1 is a nvolved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines. The reduction of ADAR1 expression reduces the editing frequencies of target transcripts such as DNA repair enzyme NEIL1 and miR-381. Increased Causative Positive The depletion of ADAR1 expression reduces their tumorigenic potential. Affect tumorigenic ability Yes
Chronic Myeloid Leukemia Human NA Increase let-7 NA Increased JAK2 signaling and BCR-ABL1 amplification activate ADAR1 Increased Causative Positive Increased ADAR1 expression causes myeloid progenitor expansion and knockdown of ADAR1 prevents malignant progenitor self-renewal. Induce myeloid progenitor expansion Yes
Melanoma Human NA Increase miR-222 NA Overexpression of ADAR1 reduces the activity of the miR-222 promoter. Increased Causative Negative ADAR1 regulates the biogenesis of miR-222 at the transcription level. Affect immune resistance Yes
Ovarian Cancer Human NA Increase GLI1 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. ADAR1 enhances Aludependent editing and transcriptional activity of GLI1, a Hedgehog (Hh) pathway transcriptional activator and self-renewal agonist, and promotes immunomodulatory drug resistance in vitro. Increased Causative Positive ADAR1 promotes malignant regeneration of multiple myeloma. Promote tumor progression and recurrence Yes
Epithelial Ovarian Cancers Human NA Increase NA NA Single nucleotide polymorphisms (SNPs) in ADAR genes modify EOC susceptibility, potentially by altering ovarian tissue gene expression. Increased Correlated Positive Germline polymorphisms in ADAR related genes are associated with gene expression and susceptibility to EOC. Promote susceptibility of cancer Yes
Aicardi-Goutires syndrome Human NA Mutation NA NA ADAR1 binds with dsRNA to regulate the IFN inducing pathway. Both ADAR1 and RIG-I bind to cellular dsRNA, but the former competes with the latter, therefore limiting RNA sensing by RIG-I. NA Causative Negative ADAR1 suppresses viral and cellular RNA detection by RIG-I through its RNA binding rather than its RNA editing activity. Inhibit viral and cellular RNA detection No
Dyschromatosis Symmetrica Hereditaria Human NA Mutation NA NA All of the four frameshift mutations and one nonsense mutation make a new stop codon after each mutation. ADAR1 protein synthesis should end there without translating the full deaminase domain located in exons 9–15, which should produce inactive enzymes of ADAR1. NA Causative Positive NA Affect Dyschromatosis Symmetrica Hereditaria No
Human immunodeficiency virus infectious disease Human NA Increase NA NA The identification of ADAR1-specific A-to-I changes in the viral sequences correlates with an ADAR1 editing-dependent stimulatory activity. Increased Causative Positive The productive assembling，release and infectivity of HIV-1 progeny virions can be stimulated by ADAR1 through its editing activity. Promote virus release and infectivity Yes
Human immunodeficiency virus infectious disease Human NA Mutation NA NA The editing-independent capacity of ADAR1 to stimulate HIV-1 protein expression is contributed by the enzyme’s inhibitory activity on of protein kinase R (PKR) phosphorylation. NA Correlated Positive Overexpression of ADAR1 in HIV-1 producer cells increases viral protein accumulation in an editing-independent manner. Promote virus replication No
Measles Human NA Decrease NA NA Pan-viral enhancement of virus growth by ADAR1 seen with some virus-cell combinations is the antagonism of protein kinase R (PKR) phosphorylation activation by ADAR1. NA Causative Positive In human cells stably knocked down for ADAR1 increases apoptosis, increases stress granule formation, and reduces viral growth following infection with measles virus. Inhibit virus growth No
Vesicular stomatitis Human NA NA NA NA ADAR1 LF150 and Dcat inhibit the RNA-activated protein kinase R (PKR) that would otherwise shut down protein synthesis by phosphorylating the a subunit of eukaryotic initiation factor 2, eIF-2a. NA Causative Positive ADAR1 stimulates the replication of vesicular stomatitis virus (VSV) and increases the susceptibility of host cells to VSV infection in an editing-independent manner. Promote virus replication No
Melanoma Human NA Decrease miR-222 NA ADAR1 decreases the biogenesis of miR-222 at the transcription level and thereby Intercellular Adhesion Molecule 1 (ICAM1) expression in an editing-independent manner. NA Causative Positive ADAR1 enhances endogenous melanoma cell resistance to cytotoxicity. Promote melanoma immune resistance No
Anxiety disorder Human NA Mutation virus:HTLV-1 NA ADAR1 effect on HTLV-1 is linked to the inhibition of PKR phosphorylation. NA Causative Positive ADAR1 mutant expression increased the release of infectious viral particles in T-lymphocytes and that this proviral effect is independent from its editing activity. Promote HTLV-1 infection No
breast cancer Human NA NA 100+ gene NA Increased the editing number of 3'UTR in related genes, which correlated with their mRNA expression. Increase Causative Positive The high level of ADAR1 mRNA expression shows a worse clinical outcome and increased editing in their 3��UTRs. Contribute to cancer evolution Yes
lung adenocarcinoma (LUAD) Human NA NA FAK NA Analysis of gene expression patterns following the loss of ADAR identifies enrichment in cell migration pathways, most notably focal adhesion kinase (FAK). Increase Causative Positive ADAR posttranscriptionally increases the FAK oncogene through physical interaction with its RNA binding domain and editing a specific intronic site, resulting in stabilization and increase of FAK transcript. ADAR is an important regulator of LUAD progression through its ability to stabilize FAK. Yes
Colorectal cancer (CRC) Human NA NA AZIN1 NA NA Increase Correlation Positive Edited AZIN1 and aberrant expression of ADAR1 associate with disease progression, recurrence, and prognosis in CRC patients. Elevated AZIN1 editing identifed high-risk stage II CRC patients Yes
gastric cancer Human NA NA AZIN1 NA NA Increase Correlation Positive Increased AZIN1 RNA status was signifcantly correlated with poor DFS. AZIN1 RNA editing levels were signifcantly elevated in GC tissues compared with matched normal mucosa Yes
Colorectal cancer (CRC) Human NA NA AZIN1 NA NA Increase Correlation Positive Edited AZIN1 promotes invasion and migration in fibroblasts The ADAR1 expression is upregulated and the degree of AZIN1 RNA editing is increased in CRC Yes
systemic lupus erythematosus Human IFNs NA 600+ sites NA Enhanced A-to-I and C-to-U Editing in SLE Patients Increase Correlation Positive In SLE, elevated editing at coding regions can potentially generate autoantigens Elevated RNA editing may promote SLE progression by increasing autoantigen load Yes
systemic lupus erythematosus Human NA NA the RIa subunit of type 1 protein kinase A. NA Type 1 protein kinase A activity is associated with modifications during and after transcription Increase Correlation Positive The precise mechanism resulting in low RI__ transcript content has not yet been identified and cannot, at this time, be attributed to substitutional mRNA editing ADAR1 mRNA content was 3-5 times higher in SLE cells than in control T cells Yes
breast cance Human NA Increase NA NA NA NA Correlation Positive NA The patient with high APOBEC expression was refractory to multiple lines of treatments but achieved durable complete response using ICIs and capecitabine. NO