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Aliases for GLRA1 Gene

Aliases for GLRA1 Gene

  • Glycine Receptor, Alpha 1 2 3
  • Glycine Receptor Strychnine-Binding Subunit 3 4
  • Glycine Receptor 48 KDa Subunit 3 4
  • HKPX1 3 6
  • STHE 3 6
  • Glycine Receptor, Alpha 1 (Startle Disease/Hyperekplexia) 2
  • Glycine Receptor Subunit Alpha-1 3
  • Startle Disease/Hyperekplexia 2
  • Stiff Person Syndrome 2

External Ids for GLRA1 Gene

Previous HGNC Symbols for GLRA1 Gene

  • STHE

Previous GeneCards Identifiers for GLRA1 Gene

  • GC05M151270
  • GC05M151230
  • GC05M151182
  • GC05M146347

Summaries for GLRA1 Gene

Entrez Gene Summary for GLRA1 Gene

  • The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for GLRA1 Gene

GLRA1 (Glycine Receptor, Alpha 1) is a Protein Coding gene. Diseases associated with GLRA1 include hyperekplexia, hereditary 1, autosomal dominant or recessive and hyperekplexia. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include glycine binding and transmitter-gated ion channel activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GLRA1 Gene

  • The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

Tocris Summary for GLRA1 Gene

  • Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem. Glycine receptors exist as pentameric proteins, homo-oligomers of the alpha isoforms (alpha1, alpha2, alpha3 or alpha4) or hetero-oligomers which also contain the beta-subtype variant (beta1) which is essential for targeting the receptor to the synapse. Glycine receptors contain an integral chloride channel, and have modulatory sites for anesthetics, neurosteroids, cannabinoids and ethanol. Disruption in glycine receptor expression or ion channel function can result in hyperekplexia, a rare neurological disorder.

Gene Wiki entry for GLRA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLRA1 Gene

Genomics for GLRA1 Gene

Regulatory Elements for GLRA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GLRA1 Gene

151,822,513 bp from pter
151,924,842 bp from pter
102,330 bases
Minus strand

Genomic View for GLRA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLRA1 Gene

Proteins for GLRA1 Gene

  • Protein details for GLRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glycine receptor subunit alpha-1
    Protein Accession:
    Secondary Accessions:
    • B2R6T3
    • Q14C77
    • Q6DJV9

    Protein attributes for GLRA1 Gene

    457 amino acids
    Molecular mass:
    52624 Da
    Quaternary structure:
    • Pentamer composed of three alpha and two beta subunits. Homopentamers of alpha subunits also form functional receptors.
    • The alpha subunit binds strychnine

    Three dimensional structures from OCA and Proteopedia for GLRA1 Gene

    Alternative splice isoforms for GLRA1 Gene


neXtProt entry for GLRA1 Gene

Proteomics data for GLRA1 Gene at MOPED

Post-translational modifications for GLRA1 Gene

  • Glycosylation at Asn66
  • Modification sites at PhosphoSitePlus

Other Protein References for GLRA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GLRA1 Gene

Domains for GLRA1 Gene

Gene Families for GLRA1 Gene

  • GLRA :Ligand-gated ion channels / Glycine receptors

Suggested Antigen Peptide Sequences for GLRA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P23415
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily.
genes like me logo Genes that share domains with GLRA1: view

Function for GLRA1 Gene

Molecular function for GLRA1 Gene

GENATLAS Biochemistry:
glycine receptor,alpha 1 subunit,inhibitory
UniProtKB/Swiss-Prot Function:
The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

Gene Ontology (GO) - Molecular Function for GLRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding IPI 11929858
GO:0016594 glycine binding IDA 15748848
GO:0016934 extracellular-glycine-gated chloride channel activity IMP 7920629
GO:0022824 transmitter-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with GLRA1: view
genes like me logo Genes that share phenotypes with GLRA1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GLRA1 Gene

Localization for GLRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLRA1 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for GLRA1 Gene COMPARTMENTS Subcellular localization image for GLRA1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 2155780
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with GLRA1: view

Pathways for GLRA1 Gene

genes like me logo Genes that share pathways with GLRA1: view

Pathways by source for GLRA1 Gene

Interacting Proteins for GLRA1 Gene

Gene Ontology (GO) - Biological Process for GLRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IEA --
GO:0001964 startle response IMP 11973623
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006810 transport --
GO:0006811 ion transport IDA 2155780
genes like me logo Genes that share ontologies with GLRA1: view

Compounds for GLRA1 Gene

(5) Tocris Compounds for GLRA1 Gene

Compound Action Cas Number
beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) [107-95-9]
Hypotaurine Non-selective endogenous glycine receptor agonist [300-84-5]
L-Alanine Glycine receptor agonist [56-41-7]
L-Serine Weak endogenous glycine receptor agonist [56-45-1]
Taurine Non-selective, endogenous glycine receptor partial agonist [107-35-7]

(4) HMDB Compounds for GLRA1 Gene

Compound Synonyms Cas Number PubMed IDs
  • Cl2
  • 1-Hydroxyethane
  • 2-Aminoacetate
  • 1-Aminoethane-2-sulfonate

(11) Drugbank Compounds for GLRA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • Desflurano [INN-Spanish]
57041-67-5 target agonist
312-84-5 target
  • Anesthetic 347
13838-16-9 target agonist
  • Absolute Alcohol
64-17-5 target agonist
Ginkgo biloba
  • Adiantifolia
target antagonist

(21) IUPHAR Ligand for GLRA1 Gene

Ligand Type Action Affinity Pubmed IDs
HU-210 Antagonist Antagonist 7
picrotoxinin Channel blocker None 6.4
Zn2+ Channel blocker None 6
HU-308 Antagonist Antagonist 6
ginkgolide X Antagonist Antagonist 5.6
ginkgolide B Channel blocker None 5.4
H+ (extracellular) Activator None 5.4
bilobalide Antagonist Antagonist 5.1
picrotin Channel blocker None 4.9
tropisetron Antagonist Antagonist 4.9
Cu2+ Allosteric regulator Inhibition 4.8
cyanotriphenylborate Channel blocker None 4.7
colchicine Antagonist Antagonist 4.2
anandamide Channel blocker None
pregnenolone sulphate Activator None
nifedipine Activator None
Delta9-tetrahydrocannabinol Channel blocker None
picrotoxin Channel blocker None
PMBA Antagonist Antagonist
strychnine Antagonist Antagonist
[3H]strychnine None None

(5) Novoseek inferred chemical compound relationships for GLRA1 Gene

Compound -log(P) Hits PubMed IDs
clonazepam 71.6 2
strychnine 68.2 1
picrotoxin 36.8 1
glutamate 7.99 1
arginine 7.81 1
genes like me logo Genes that share compounds with GLRA1: view

Transcripts for GLRA1 Gene

mRNA/cDNA for GLRA1 Gene

(3) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GLRA1 Gene

Glycine receptor, alpha 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLRA1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLRA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP2: -

Relevant External Links for GLRA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GLRA1 Gene

mRNA expression in normal human tissues for GLRA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLRA1 Gene

This gene is overexpressed in Brain - Hypothalamus (12.5), Brain - Substantia nigra (10.4), and Brain - Spinal cord (cervical c-1) (10.4).

Protein differential expression in normal tissues for GLRA1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GLRA1 Gene

SOURCE GeneReport for Unigene cluster for GLRA1 Gene Hs.121490

genes like me logo Genes that share expressions with GLRA1: view

Expression partners for GLRA1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GLRA1 Gene

Orthologs for GLRA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLRA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GLRA1 35
  • 92.12 (n)
  • 99.78 (a)
GLRA1 36
  • 100 (a)
(Canis familiaris)
Mammalia GLRA1 35
  • 93.29 (n)
  • 99.78 (a)
GLRA1 36
  • 100 (a)
(Mus musculus)
Mammalia Glra1 35
  • 90.72 (n)
  • 98.66 (a)
Glra1 16
Glra1 36
  • 99 (a)
(Pan troglodytes)
Mammalia GLRA1 35
  • 99.85 (n)
  • 100 (a)
GLRA1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Glra1 35
  • 90.2 (n)
  • 98.22 (a)
(Monodelphis domestica)
Mammalia GLRA1 36
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia GLRA1 36
  • 96 (a)
(Gallus gallus)
Aves GLRA1 35
  • 84.11 (n)
  • 96.21 (a)
GLRA1 36
  • 94 (a)
(Anolis carolinensis)
Reptilia GLRA1 36
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia glra1 35
  • 78.92 (n)
  • 89.06 (a)
(Danio rerio)
Actinopterygii glra1 35
  • 78.16 (n)
  • 87.3 (a)
glra1 36
  • 84 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7228 35
fruit fly
(Drosophila melanogaster)
Insecta CG11340 37
  • 30 (a)
CG6927 37
  • 32 (a)
CG7589 37
  • 30 (a)
GluClalpha 37
  • 41 (a)
ort 37
  • 40 (a)
Rdl 37
  • 44 (a)
GluClalpha 35
  • 50.64 (n)
  • 41.72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001434 35
  • 51.52 (n)
  • 41.32 (a)
(Caenorhabditis elegans)
Secernentea avr-14 37
  • 38 (a)
C39B10.2 37
  • 37 (a)
C53D6.3 37
  • 30 (a)
F09G2.5 37
  • 27 (a)
F11H8.2 37
  • 35 (a)
F55D10.5 37
  • 34 (a)
F58G6.4 37
  • 29 (a)
gbr-4 37
  • 35 (a)
gbr-5 37
  • 36 (a)
gbr-6 37
  • 31 (a)
glc-1 37
  • 38 (a)
glc-2 37
  • 37 (a)
glc-3 37
  • 47 (a)
glc-4 37
  • 33 (a)
K10D6.1 37
  • 30 (a)
T24D8.1 37
  • 39 (a)
T27E9.9 37
  • 29 (a)
W10G11.16 37
  • 38 (a)
Y39A3B.2 37
  • 37 (a)
Y71D11A.5 37
  • 29 (a)
Y73F8A.2 37
  • 29 (a)
glc-3 35
  • 51.86 (n)
  • 50.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
Species with no ortholog for GLRA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLRA1 Gene

Gene Tree for GLRA1 (if available)
Gene Tree for GLRA1 (if available)

Paralogs for GLRA1 Gene

genes like me logo Genes that share paralogs with GLRA1: view

Variants for GLRA1 Gene

Sequence variations from dbSNP and Humsavar for GLRA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs890832 -- 151,890,769(-) CACAA(C/T)CTCTA intron-variant
rs919262 -- 151,886,523(-) AAAAT(A/G)GCCAA intron-variant
rs919263 -- 151,886,292(-) GTAAA(A/G)AAGTT intron-variant
rs991738 -- 151,918,888(+) AGAGT(A/G)CATTA intron-variant
rs1006429 -- 151,910,212(-) CAGGT(A/G)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLRA1 Gene

Variant ID Type Subtype PubMed ID
esv2677174 CNV Deletion 23128226
esv28315 CNV Loss 19812545
esv272818 CNV Insertion 20981092

Relevant External Links for GLRA1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLRA1 Gene

Disorders for GLRA1 Gene

(1) OMIM Diseases for GLRA1 Gene (138491)


  • Hyperekplexia 1 (HKPX1) [MIM:149400]: A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269 PubMed:10514101, ECO:0000269 PubMed:7611730, ECO:0000269 PubMed:7881416, ECO:0000269 PubMed:7981700, ECO:0000269 PubMed:8298642, ECO:0000269 PubMed:8571969, ECO:0000269 PubMed:8733061, ECO:0000269 PubMed:9067762, ECO:0000269 PubMed:9920650, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GLRA1 Gene

(2) Novoseek inferred disease relationships for GLRA1 Gene

Disease -log(P) Hits PubMed IDs
hyperekplexia 98.6 59
neurological disorders 61.9 5

Relevant External Links for GLRA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GLRA1: view

No data available for Genatlas for GLRA1 Gene

Publications for GLRA1 Gene

  1. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. (PMID: 8298642) Shiang R. … Wasmuth J.J. (Nat. Genet. 1993) 2 3 4 23
  2. Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. (PMID: 7925268) Langosch D. … Betz H. (EMBO J. 1994) 3 4 23
  3. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. (PMID: 1355335) Ryan S.G. … Mackey R.W. (Ann. Neurol. 1992) 2 3 23
  4. Mutational analysis of familial and sporadic hyperekplexia. (PMID: 7611730) Shiang R. … Wasmuth J.J. (Ann. Neurol. 1995) 3 4 23
  5. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (PMID: 8733061) Elmslie F.V. … Rees M. (J. Med. Genet. 1996) 3 4 23

Products for GLRA1 Gene

Sources for GLRA1 Gene

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