ADARB1 - adenosine deaminase RNA specific B1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

A_deamin

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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	Pre-designed Sets	/	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

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