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FLASH GENE

Symbol

ADARB1

contributors: mct/ - updated : 22-10-2018

HGNC name	adenosine deaminase, RNA-specific, B1
HGNC id	226

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Homo sapiens Nervous brain         Homo sapiens   nerve       highly Reproductive male system testis       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens Reproductive Sertoli cell Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	during forebrain development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a nuclear localization signal (NLS)
	two dsRNA binding motifs (DRBM), that serve differential roles in RNA dimerization and GluR2 Q/R editing
	an intragenic Alu-related sequence

HOMOLOGY

interspecies

ortholog to Drosophila Adar

Homologene

FAMILY

ADAR family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	double stranded RNA editase 1, editing deaminase of glutamate receptor, subunit B by site specific deamination of adenosines
	catalyze the hydrolytic deamination of adenosine to inosine and thereby change the sequence of specific mRNAs with highly double-stranded structures
	molecular link between reduced ADARB1 activity and TARDBP pathology
	in addition to its structural role in the synaptonemal complex (SC), is a crucial coordinator of meiosis by coupling checkpoint signaling to SC formation
	functions as a downstream effector of 9-1-1 in the meiotic DNA damage surveillance pathway
	catalyse conversion of adenosine to inosine in dsRNA
	potential novel role of ADARB1 as a viral regulator
	ADARB1 and ADAR have evolved highly conserved, distinct functions
	catalyses the deamination of adenosine to inosine at the GluR2 Q/R site in the pre-mRNA encoding the critical subunit of AMPA receptors
	catalyzes circadian A-to-I editing and regulates RNA rhythm
	is likely a mediator of injury-induced tactile allodynia
	ADARB1 mediates likely A-to-I RNA editing in the testis
	ADAR coordinates with ADARB1 to regulate editing and stability of Cat2 transcribed nuclear RNA (Ctn RNA)
	is essential for the recoding of brain transcripts

CELLULAR PROCESS

protein, editing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of large nuclear ribonucleoprotein particles
	structural component of the synaptonemal complex
	endogenous ADAR can form heterodimers with ADARB1 in astrocytes (

INTERACTION

DNA

RNA

small molecule

protein	large nuclear ribonucleoproteins
	phosphorylation-dependent prolyl-isomerase PIN1 interacts with ADARB1 and is a positive regulator required for the nuclear localization and stability of ADARB1
	WWP2 plays a negative role by binding to ADARB1 and catalysing its ubiquitination and subsequent degradation
	MAPK8 serves as a crucial component in mediating glucose-responsive upregulation of ADAR2 expression in pancreatic beta-cells
	like ADARB1, underlying sequences in dsRNA may influence how ILF3 recognizes its target RNAs
	ELAVL1 and PARN destabilize Cat2 transcribed nuclear RNA (Ctn RNA) in absence of ADARB1, indicating that ADAR2 stabilizes Ctn RNA by antagonizing its degradation by PARN and ELAVL1
	KPNA3, which increases during neuronal maturation, interacts with ADARB1 and contributes to the editing efficiency by bringing it into the nucleus

cell & other

interacts with two subunits of the 9-1-1 checkpoint complex via two distinct 9-1-1 subunit-specific motifs

REGULATION

Other

its protein levels and catalytic activity are coordinately regulated in a positive manner by PIN1 and negatively by WWP2 and this may have downstream effects on the function of GRIA2

ASSOCIATED DISORDERS

corresponding disease(s)

NEDHYMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   is a profound pathological change relevant to death of motor neurons in Amyotrophic lateral sclerosis ( constitutional       loss of function loss of ADARB1 activity causes AMPA receptor-mediated death of motor neurons tumoral     --low   in astrocytoma, decrease in ADARB1 editing activity that seems to correlate with the grade of malignancy in children tumoral       loss of function transcripts with exon 5a, which generate an ADARB1 isoform with ~50p 100 reduced activity, were predominantlyexpressed in the glioma cell lines, whereas transcripts without exon 5a were predominantly expressed in normal human astrocytes constitutional     --low   ADAR2-reduction is associated with progressive deterioration of nuclear architecture, resulting in vacuolated nuclei due to a Ca(2+)-permeable AMPA receptor-mediated mechanism

Susceptibility

Variant & Polymorphism other

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   potential therapeutic target for the treatment of neuropathic pain cancer brain   ADARB1 or its substrates may represent a suitable target(s) for possible novel, more effective and less toxic approaches to the treatment of

ANIMAL & CELL MODELS