ADARB1
Double-stranded RNA-specific editase 1
Also known as: ADAR2, ADAR2a, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2b, ADAR2c, ADAR2d, ADAR2g, DRABA2, DRADA2, hRED1, RED1, RED1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P78563
- Gene
- ADARB1
- Ensembl
- ENSG00000197381
- Chromosome
- 21
- Canonical length
- 741 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
741 residues, UniProt reviewed canonical sequence.
>P78563|ADARB1
1 MDIEDEENMS SSSTDVKENR NLDNVSPKDG STPGPGEGSQ LSNGGGGGPG RKRPLEEGSN
61 GHSKYRLKKR RKTPGPVLPK NALMQLNEIK PGLQYTLLSQ TGPVHAPLFV MSVEVNGQVF
121 EGSGPTKKKA KLHAAEKALR SFVQFPNASE AHLAMGRTLS VNTDFTSDQA DFPDTLFNGF
181 ETPDKAEPPF YVGSNGDDSF SSSGDLSLSA SPVPASLAQP PLPVLPPFPP PSGKNPVMIL
241 NELRPGLKYD FLSESGESHA KSFVMSVVVD GQFFEGSGRN KKLAKARAAQ SALAAIFNLH
301 LDQTPSRQPI PSEGLQLHLP QVLADAVSRL VLGKFGDLTD NFSSPHARRK VLAGVVMTTG
361 TDVKDAKVIS VSTGTKCING EYMSDRGLAL NDCHAEIISR RSLLRFLYTQ LELYLNNKDD
421 QKRSIFQKSE RGGFRLKENV QFHLYISTSP CGDARIFSPH EPILEGSRSY TQAGVQWCNH
481 GSLQPRPPGL LSDPSTSTFQ GAGTTEPADR HPNRKARGQL RTKIESGEGT IPVRSNASIQ
541 TWDGVLQGER LLTMSCSDKI ARWNVVGIQG SLLSIFVEPI YFSSIILGSL YHGDHLSRAM
601 YQRISNIEDL PPLYTLNKPL LSGISNAEAR QPGKAPNFSV NWTVGDSAIE VINATTGKDE
661 LGRASRLCKH ALYCRWMRVH GKVPSHLLRS KITKPNVYHE SKLAAKEYQA AKARLFTAFI
721 KAGLGAWVEK PTEQDQFSLT PLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ADARB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 110 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 110 nTPM
- urinary bladder: 54 nTPM
- cerebellum: 45 nTPM
- colon: 32 nTPM
- lung: 32 nTPM
- retina: 25 nTPM
Single-cell type
- thymic myoid cells: 355 nCPM
- retinal amacrine cells: 266 nCPM
- myosatellite cells: 215 nCPM
- epicardial cells: 212 nCPM
- smooth muscle cells: 185 nCPM
- retinal bipolar cells: 183 nCPM
Immune cell
- naive B-cell: 2 nTPM
- eosinophil: 1.6 nTPM
- plasmacytoid DC: 1.2 nTPM
- memory CD4 T-cell: 0.8 nTPM
- MAIT T-cell: 0.7 nTPM
- naive CD4 T-cell: 0.7 nTPM
Brain region
- cerebellum: 78 nTPM
- pons: 61 nTPM
- choroid plexus: 61 nTPM
- thalamus: 49 nTPM
- cerebral cortex: 45 nTPM
- medulla oblongata: 42 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ADARB1.
Disease | AllUniProt
Conditions ADARB1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) MIM:618862
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 114 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.4
- gnomAD pLI
- 0.8
- gnomAD missense Z
- 3.52
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenosine to inosine editing
- base conversion or substitution editing
- defense response to virus
- facial nerve morphogenesis
- innate immune response
- innervation
- motor behavior
- motor neuron apoptotic process
- mRNA modification
- mRNA processing
- multicellular organism growth
- muscle tissue morphogenesis
- negative regulation of cell migration
- negative regulation of cell population proliferation
- negative regulation of protein kinase activity by regulation of protein phosphorylation
- neuromuscular process controlling posture
- neuromuscular synaptic transmission
- positive regulation of viral genome replication
- regulation of cell cycle
- RNA processing
- spinal cord ventral commissure morphogenesis
- hypoglossal nerve morphogenesis
Molecular functions
- double-stranded RNA adenosine deaminase activity
- double-stranded RNA binding
- identical protein binding
- metal ion binding
- mRNA binding
- RNA binding
- tRNA-specific adenosine deaminase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Adenosine deaminase/editase
- Cytokine IL1/FGF
- Double-stranded RNA-binding domain
- Double-stranded RNA binding motif
- Adenosine-deaminase (editase) domain
- ADAR2, first double-stranded RNA binding domain
- ADAR2, second double-stranded RNA binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ADARB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ADARB1 as an antibody target. Whether an autoantibody or antibody against ADARB1 could matter depends on whether native ADARB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ADARB1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ADARB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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