ADARB1 - adenosine deaminase RNA specific B1 Gene

Also Known as RED1; ADAR2; DRABA2; DRADA2; NEDHYMS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 104

About ADARB1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:45,074,578-45,226,563 (from NCBI)

This gene has 15 transcripts (splice variants), 294 orthologues, 14 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lung (RPKM 5.2), urinary bladder (RPKM 3.4) and 24 other tissues.

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 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]

ADARB1 Products (7)

mRNA Protein Name
NM_001112.4 NP_001103.1 double-stranded RNA-specific editase 1 isoform 1
NM_001160230.2 NP_001153702.1 double-stranded RNA-specific editase 1 isoform 7
NM_001346687.2 NP_001333616.1 double-stranded RNA-specific editase 1 isoform 8
NM_001346688.2 NP_001333617.1 double-stranded RNA-specific editase 1 isoform 7
NM_001410722.1 NP_001397651.1 double-stranded RNA-specific editase 1 isoform 9
NM_015833.4 NP_056648.1 double-stranded RNA-specific editase 1 isoform 2
NM_015834.4 NP_056649.1 double-stranded RNA-specific editase 1 isoform 3

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA binding EXP
EXP: Inferred from Experiment
27065196 GOA
enables RNA binding IDA
IDA: Inferred from direct assay
9111310 GOA
enables double-stranded RNA adenosine deaminase activity IDA
IDA: Inferred from direct assay
8995285 GOA
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
8995285 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21847096 GOA
Biological Process GO Annotation Evidence References Source
involved in RNA processing IDA
IDA: Inferred from direct assay
9149227 GOA
involved in adenosine to inosine editing IDA
IDA: Inferred from direct assay
18178553 GOA
involved in base conversion or substitution editing IDA
IDA: Inferred from direct assay
32220291 GOA
involved in negative regulation of cell migration IDA
IDA: Inferred from direct assay
18178553 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
18178553 GOA
involved in negative regulation of protein kinase activity by regulation of protein phosphorylation IDA
IDA: Inferred from direct assay
21289159 GOA
involved in positive regulation of viral genome replication IMP
IMP: Inferred from mutant phenotype
21289159 GOA
involved in regulation of cell cycle IDA
IDA: Inferred from direct assay
18178553 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleolus IDA
IDA: Inferred from direct assay
18178553 GOA
located in nucleus IDA
IDA: Inferred from direct assay
8995285 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADARB1 Protein Structure

dsrm

dsrm: Double-stranded RNA binding motif (79 - 140)

dsrm

dsrm: Double-stranded RNA binding motif (237 - 294)

A_deamin

A_deamin: Adenosine-deaminase (editase) domain (370 - 733)

(471 - 490)

  • 0
  • 200
  • 400
  • 600
  • 741 a.a.
Protein Preferred Names Protein Names

double-stranded RNA-specific editase 1

  • RNA editing deaminase 1

ADARB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ADARB1 P78563 CSNK2A1 Homo sapiens P68400
Y2H Array
32814053
Intra
ADARB1 P78563 CSNK2A1 Homo sapiens P68400
Y2H Pooling
32814053
Intra
ADARB1 P78563 CSNK2A1 Homo sapiens P68400
Validated Y2H
32814053
Intra
ADARB1 P78563 PIN1 Homo sapiens Q13526
IF
21847096
Intra
ADARB1 P78563 PIN1 Homo sapiens Q13526
Pull Down
21847096
Intra
ADARB1 P78563 PIN1 Homo sapiens Q13526
Anti Tag CoIP
21847096
Intra
ADARB1 P78563 JUN Homo sapiens P05412
Y2H Pooling
32814053
Intra
ADARB1 P78563 JUN Homo sapiens P05412
Validated Y2H
32814053
Intra
ADARB1 P78563 JUN Homo sapiens P05412
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

ADARB1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810843 ADAR2 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures

  • NEDHYMS
Dyschromatosis Symmetrica Hereditaria

  • Dyschromatosis Symmetrica Hereditaria 1

  • Reticulate Acropigmentation Of Dohi

  • DSH

  • Dsh1

  • Symmetric Dyschromatosis Of The Extremities

  • Rad

  • Familial Reticulate Acropigmentation Of Dohi

  • Acropigmentation Of Dohi

  • Symmetrical Dyschromatosis Of Extremities
Childhood Astrocytic Tumor

  • Juvenile Astrocytoma

  • Pediatric Astrocytoma
Borna Disease

  • Enzootic Encephalomyelitis
Hepatitis D

  • Delta Hepatitis

  • Hepatitis Delta

  • Hdv

  • Hepatitis D Virus

  • Hepatitis D Infection
Cortical Blindness

  • Blindness, Cortical
Aicardi-Goutieres Syndrome

  • Aicardi Goutieres Syndrome

  • Cree Encephalitis

  • Aicardi-Goutières Syndrome

  • Encephalopathy With Basal Ganglia Calcification

  • Ags

  • Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

  • Pseudotoxoplasmosis Syndrome

  • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

  • Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

  • Aicardi-Goutieres Syndrome 1
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Gastric Tubular Adenocarcinoma

  • Tubular Adenocarcinoma Of Stomach
Pigmentation Disease

  • Pigmentation Disorders

  • Skin Pigmentation Disorder
Amyotrophic Lateral Sclerosis 1

  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00318 ADARB1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ADARB1 VGNC VGNC:69503
Mus musculus ADARB1 MGD MGI:891999
Felis catus ADARB1 VGNC VGNC:59607
Bos taurus ADARB1 VGNC VGNC:25636
Canis familiaris ADARB1 VGNC VGNC:53019
Rattus norvegicus ADARB1 RGD RGD:2033
Others ADARB1 NCBI