Gene Gene information from NCBI Gene database.
Entrez ID 104
Gene name Adenosine deaminase RNA specific B1
Gene symbol ADARB1
Synonyms (NCBI Gene)
ADAR2DRABA2DRADA2NEDHYMSRED1
Chromosome 21
Chromosome location 21q22.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
232
miRTarBase ID miRNA Experiments Reference
MIRT020174 hsa-miR-130b-3p Sequencing 20371350
MIRT022259 hsa-miR-124-3p Microarray 18668037
MIRT025443 hsa-miR-34a-5p Proteomics 21566225
MIRT025977 hsa-miR-148a-3p Sequencing 20371350
MIRT027945 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003723 Function RNA binding EXP 27065196
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IDA 9111310
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601218 226 ENSG00000197381
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78563
Protein name Double-stranded RNA-specific editase 1 (EC 3.5.4.37) (RNA-editing deaminase 1) (RNA-editing enzyme 1) (dsRNA adenosine deaminase)
Protein 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
PDB 1ZY7 , 5ED1 , 5ED2 , 5HP2 , 5HP3 , 6D06 , 6VFF , 7KFN , 8E0F , 8E4X , 9D5J , 9D5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00035 dsrm 79 141 Double-stranded RNA binding motif Domain
PF00035 dsrm 239 296 Double-stranded RNA binding motif Domain
PF02137 A_deamin 370 731 Adenosine-deaminase (editase) domain Family
Tissue specificity 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). {ECO:0000269|PubMed:18178553, ECO:0000269|PubMed:91492
Sequence
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    C6 deamination of adenosine
Formation of editosomes by ADAR proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures Pathogenic rs2518287411, rs2518003515, rs2092054613, rs2091682680, rs1364071684, rs1323703791 RCV003152522
RCV003152523
RCV001090010
RCV001090011
RCV001090012
RCV001090013
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal CNS myelination Benign rs1344272743 RCV001254918
ADARB1-related disorder Likely benign rs373179300 RCV003984759
Encephalopathy Benign rs1344272743 RCV001254918
Malignant tumor of urinary bladder Uncertain significance rs773802034 RCV005929063
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31491024
Astrocytoma Inhibit 23697632
Ataxia Associate 32719099
Cap Myopathy Associate 18708348
Carcinogenesis Associate 28821813
Carcinoma Hepatocellular Associate 24386085
Carcinoma in Situ Associate 40010639
Carcinoma Squamous Cell Associate 32016472
Chordoma Associate 25673044
Death Associate 32220291, 32719099