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FLASH GENE

Symbol

GLRA1

contributors: mct - updated : 24-05-2011

HGNC name	glycine receptor, alpha 1
HGNC id	4326

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	STHE1 Startle disease, hyperekplexia 1
Location	5q33.1      Physical location : 151.202.074 - 151.304.397
Synonym name	glycine receptor 48 kDa subunit
	glycine receptor strychnine-binding subunit
	strychnine-sensitive glycine receptor
Synonym symbol(s)	GLR1, GLYR1, STH2, MGC138878, MGC138879

DNA

TYPE	functioning gene
STRUCTURE	102.32 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

two alternative exons 5a, 5b

MAPPING

cloned

Y

linked

N

status

provisional

Map	see CSF1R , GRIA1

RNA

TRANSCRIPTS	type	messenger

text	two forms differing by exon 5, 5a or 5b

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000171 9 - 1811 NP_000162 - 449 - 2010 19959465 NM_001146040 - - 1835 NP_001139512 - 457 - 2010 19959465

EXPRESSION

Type	restricted

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 midbrain         spinal cord         Reproductive male system testis

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	ligand gated ion (Cl) channel
	four transmembrane segments (4TM)
	a ligand-binding extracellular domain (ECD)
	multifunctional basic motif of the TM3-4 loop is capable of mediating a karyopherin-dependent intracellular sorting of GLRA1 (

mono polymer

homomer , heteromer , pentamer

HOMOLOGY

Homologene

FAMILY

ligand-gated chloride channel family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	glycine fast reponse transduction, inhibitory chloride channel
	ligand-gated ion channel that mediates fast synaptic inhibition in the vertebrate central nervous system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission

a component

three ligand-binding alpha1 subunits and two structural beta subunits

INTERACTION

DNA

RNA

small molecule	other,
	strychnine

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

STHE1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS