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Aliases for GLRA1 Gene

Aliases for GLRA1 Gene

  • Glycine Receptor Alpha 1 2 3 5
  • Glycine Receptor Strychnine-Binding Subunit 3 4
  • Glycine Receptor 48 KDa Subunit 3 4
  • Glycine Receptor, Alpha 1 (Startle Disease/Hyperekplexia) 2
  • Stiff Person Syndrome 2
  • HKPX1 3
  • STHE 3

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, which 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. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and DAG and IP3 signaling. GO annotations related to this gene include extracellular ligand-gated ion channel activity and extracellular-glycine-gated chloride channel activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GLRA1 Gene

  • Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels ot ethanol contribute to the sedative effects of ethanol (By similarity).

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.

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

Genomic Location for GLRA1 Gene

Chromosome:
5
Start:
151,822,513 bp from pter
End:
151,924,866 bp from pter
Size:
102,354 bases
Orientation:
Minus strand

Genomic View for GLRA1 Gene

Genes around GLRA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLRA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P23415-GLRA1_HUMAN
    Recommended name:
    Glycine receptor subunit alpha-1
    Protein Accession:
    P23415
    Secondary Accessions:
    • B2R6T3
    • Q14C77
    • Q6DJV9

    Protein attributes for GLRA1 Gene

    Size:
    457 amino acids
    Molecular mass:
    52624 Da
    Quaternary structure:
    • Homopentamer (in vitro) (PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25730860). Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed:22715885, PubMed:22973015, PubMed:25445488). Heteropentamer composed of two GLRA1 and three GLRB (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed:22973015). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:14551753, PubMed:22715885, PubMed:22973015, PubMed:25445488, PubMed:23994010, PubMed:25730860).
    Miscellaneous:
    • The alpha subunit binds strychnine.

    Three dimensional structures from OCA and Proteopedia for GLRA1 Gene

    Alternative splice isoforms for GLRA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLRA1 Gene

Proteomics data for GLRA1 Gene at MOPED

Post-translational modifications for GLRA1 Gene

  • Glycosylation at Asn 66
  • Modification sites at PhosphoSitePlus

Other Protein References for GLRA1 Gene

Antibody Products

No data available for DME Specific Peptides for GLRA1 Gene

Domains & Families for GLRA1 Gene

Gene Families for GLRA1 Gene

Suggested Antigen Peptide Sequences for GLRA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23415

UniProtKB/Swiss-Prot:

GLRA1_HUMAN :
  • The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. In the absence of the extracellular domain, the channel is in a constitutively open conformation (PubMed:23994010). Channel opening is effected by an outward rotation of the transmembrane domains that increases the diameter of the pore (By similarity).
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily.
Domain:
  • The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. In the absence of the extracellular domain, the channel is in a constitutively open conformation (PubMed:23994010). Channel opening is effected by an outward rotation of the transmembrane domains that increases the diameter of the pore (By similarity).
Family:
  • 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 BiophysicochemicalProperties:
Kinetic parameters: Note=A concentration of about 0.02 mM glycine results in half- maximal channel conductance for homopentamers. A concentration of 0.018 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:9009272). A concentration of 0.027 mM glycine results in half-maximal channel conductance for homopentamers upon heterologous expression in cultured human embryonic kidney cells (PubMed:7920629). {ECO:0000269 PubMed:7920629, ECO:0000269 PubMed:9009272};
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity is potentiated by nanomolar concentrations of Zn(2+); half-maximal activation is observed with 37 nM Zn(2+) (PubMed:16144831). Inhibited by higher Zn(2+) levels; haf-maximal inhibition occurs at 20 uM Zn(2+) (PubMed:16144831). Inhibited by strychnine (PubMed:2155780, PubMed:16144831, PubMed:25445488). Inhibited by lindane (PubMed:25445488). Inhibited by picrotoxin (PubMed:22715885, PubMed:23994010, PubMed:25730860). Strychnine binding locks the channel in a closed conformation and prevents channel opening in response to extracellular glycine (By similarity).
UniProtKB/Swiss-Prot Function:
Glycine receptors are ligand-gated chloride channels (PubMed:23994010, PubMed:25730860). Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:7920629, PubMed:14551753, PubMed:16144831, PubMed:22715885, PubMed:22973015, PubMed:25973519, PubMed:9009272). Channel opening is also triggered by taurine and beta-alanine (PubMed:16144831, PubMed:9009272). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed:14551753). Plays an important role in the down-regulation of neuronal excitability (PubMed:8298642, PubMed:9009272). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Channel activity is potentiated by ethanol (PubMed:25973519). Potentiation of channel activity by intoxicating levels ot ethanol contribute to the sedative effects of ethanol (By similarity).

Gene Ontology (GO) - Molecular Function for GLRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0016594 glycine binding IEA,IDA 2155780
genes like me logo Genes that share ontologies with GLRA1: view
genes like me logo Genes that share phenotypes with GLRA1: view

Human Phenotype Ontology for GLRA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets 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 junction, synapse. Perikaryon. Cell projection, dendrite. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 IEA --
GO:0016021 integral component of membrane IEA,NAS 15952785
GO:0030425 dendrite IEA --
GO:0043005 neuron projection ISS --
GO:0043025 neuronal cell body ISS --
genes like me logo Genes that share ontologies with GLRA1: view

Pathways & Interactions 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 IEA,IMP 8298642
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA,IDA 2155780
genes like me logo Genes that share ontologies with GLRA1: view

No data available for SIGNOR curated interactions for GLRA1 Gene

Drugs & Compounds for GLRA1 Gene

(38) Drugs for GLRA1 Gene - From: Tocris, IUPHAR, DGIdb, Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 94
Desflurane Approved Pharma antagonist, Target, agonist 125
Enflurane Approved Pharma Target, agonist 2
Isoflurane Approved Pharma agonist, Target 87
Sevoflurane Approved Pharma antagonist, Target, agonist 429

(6) Additional Compounds for GLRA1 Gene - From: IUPHAR, Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Delta<sup>9</sup>-tetrahydrocannabinol
Partial agonist, Agonist
H<sup>+</sup> (extracellular)
Activator
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
Hypotaurine
  • 2-Amino-Ethanesulfinate
  • 2-Amino-Ethanesulfinic acid
  • 2-Aminoethanesulfinate
  • 2-Aminoethanesulfinic acid
  • 2-Aminoethylsulfinate
300-84-5
genes like me logo Genes that share compounds with GLRA1: view

Transcripts for GLRA1 Gene

mRNA/cDNA for GLRA1 Gene

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

Unigene Clusters for GLRA1 Gene

Glycine receptor, alpha 1:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -

Relevant External Links for GLRA1 Gene

GeneLoc Exon Structure for
GLRA1
ECgene alternative splicing isoforms for
GLRA1

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 (x12.5), Brain - Substantia nigra (x10.4), and Brain - Spinal cord (cervical c-1) (x10.4).

Protein differential expression in normal tissues from HIPED for GLRA1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GLRA1: view

Protein tissue co-expression partners for GLRA1 Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia GLRA1 35
  • 99.85 (n)
  • 100 (a)
GLRA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLRA1 36
  • 100 (a)
OneToOne
GLRA1 35
  • 92.12 (n)
  • 99.78 (a)
dog
(Canis familiaris)
Mammalia GLRA1 35
  • 93.29 (n)
  • 99.78 (a)
GLRA1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glra1 16
Glra1 35
  • 90.72 (n)
  • 98.66 (a)
Glra1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLRA1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRA1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glra1 35
  • 90.2 (n)
  • 98.22 (a)
chicken
(Gallus gallus)
Aves GLRA1 35
  • 84.11 (n)
  • 96.21 (a)
GLRA1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLRA1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glra1 35
  • 78.92 (n)
  • 89.06 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7228 35
zebrafish
(Danio rerio)
Actinopterygii glra1 35
  • 78.16 (n)
  • 87.3 (a)
glra1 36
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001434 35
  • 51.52 (n)
  • 41.32 (a)
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)
worm
(Caenorhabditis elegans)
Secernentea glc-3 35
  • 51.86 (n)
  • 50.17 (a)
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)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GLRA1 (if available)
TreeFam:
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
VAR_000296 Hyperekplexia 1 (HKPX1)
VAR_000297 Hyperekplexia 1 (HKPX1)
VAR_000298 Hyperekplexia 1 (HKPX1)
VAR_000299 Hyperekplexia 1 (HKPX1)
VAR_000300 Hyperekplexia 1 (HKPX1)

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

Variation tolerance for GLRA1 Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLRA1 Gene

HapMap Linkage Disequilibrium report
GLRA1
Human Gene Mutation Database (HGMD)
GLRA1

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

Disorders for GLRA1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for GLRA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GLRA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLRA1_HUMAN
  • 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:24108130, 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.18}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLRA1

Genetic Association Database (GAD)
GLRA1
Human Genome Epidemiology (HuGE) Navigator
GLRA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLRA1
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 67
  2. Alanine-scanning mutagenesis in the signature disulfide loop of the glycine receptor alpha 1 subunit: critical residues for activation and modulation. (PMID: 15287733) Schofield C.M. … Harrison N.L. (Biochemistry 2004) 3 23 25 26
  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. Potentiation and inhibition of glycine receptors by tutin. (PMID: 21044637) Fuentealba J. … Aguayo L.G. (Neuropharmacology 2011) 25 26
  5. 3D structure and allosteric modulation of the transmembrane domain of pentameric ligand-gated ion channels. (PMID: 20713066) Baenziger J.E. … Corringer P.J. (Neuropharmacology 2011) 25 26

Products for GLRA1 Gene

Sources for GLRA1 Gene

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