GLRA1 (glycine receptor alpha 1)

2016-10-01  

Identity

HGNC
LOCATION
5q33.1
LOCUSID
ALIAS
HKPX1,STHE
FUSION GENES

Other Information

Locus ID:

NCBI: 2741
MIM: 138491
HGNC: 4326
Ensembl: ENSG00000145888

Variants:

dbSNP: 2741
ClinVar: 2741
TCGA: ENSG00000145888
COSMIC: GLRA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145888ENST00000274576P23415
ENSG00000145888ENST00000455880P23415
ENSG00000145888ENST00000462581E5RJ70

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
209596302011Transmembrane potential of GlyCl-expressing instructor cells induces a neoplastic-like conversion of melanocytes via a serotonergic pathway.57
206311902010Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.51
214635772011Microsecond simulations indicate that ethanol binds between subunits and could stabilize an open-state model of a glycine receptor.41
230903342013Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype.40
161448312005Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.38
119810202002Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity.37
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
214149032011Glycine receptor channels in spinal motoneurons are abnormal in a transgenic mouse model of amyotrophic lateral sclerosis.34
170409142006Molecular determinants for G protein betagamma modulation of ionotropic glycine receptors.33

Citation

Dessen P

GLRA1 (glycine receptor alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56133/glra1