2. Gene
  3. ADARB1 - adenosine deaminase RNA specific B1 Gene

ADARB1 - adenosine deaminase RNA specific B1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 104 | Gene type: protein coding

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

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

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