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FLASH GENE

Symbol

GABRB1

contributors: mct - updated : 18-11-2016

HGNC name	gamma-aminobutyric acid (GABA) A receptor, beta 1
HGNC id	4081

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE45 epileptic encephalopathy, early infantile, 45
Location	4p12      Physical location : 47.033.294 - 47.428.445

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor
STRUCTURE	407.13 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000812 9 - 2226 NP_000803 - 474 - 2014 25192656

EXPRESSION

Type

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 Nervous brain         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ligand binding site in the N terminal region
	four transmembrane segments (4TM), one of which forming the wall of the channel
	a large intracellular loop

HOMOLOGY

interspecies	ortholog to murine Gabrb1
	homolog to Drosophila Lcch3
	homolog to C.elegans T21C12.1d

Homologene

FAMILY

ligand-gated ionic channel family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm
	intracellular,nuclear envelope

basic FUNCTION	mediating the fastest inhibitory synaptic transmission in the central nervous system
	involved in inhibitory effects on neurotransmission, and associate with the formation of protease-resistant prion protein in prion-infected neuroblastoma cells
	important link between GABRB1 function and increased alcohol consumption that could underlie some forms of alcohol abuse
	is responsible for mediating inhibitory neurotransmission in the thalamus
	involvement of the GABRB1 gene in the thalamus structure and their interactive effects on intelligence

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	chloride channel

PATHWAY

metabolism

signaling

neurotransmission , signal transduction

a component

component of a pentameric receptor (alpha, beta, gamma, delta and rho)

INTERACTION

DNA

RNA

small molecule

protein

binding to GABA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE45

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in the Folic acid (FA)-treated cells in a concentration-dependent manner constitutional     --low   GABRB1 disruption has been implicated in autism

Susceptibility

to high alcohol consumption

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS