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GLRA1 Gene(Protein Coding)

Glycine Receptor Alpha 1

GCID:
GC05M151799
GIFtS:
63
Genes Participants
UDN Logo

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
  • Glycine Receptor Subunit Alpha-1 3
  • 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 Ion channel transport. 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 GLRA3.

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 of 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLRA1 Gene

Genomics for GLRA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for GLRA1 Gene

Enhancers for GLRA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G151821 0.9 FANTOM5 1.5 +103.5 103481 0.3 SOX13 FOXA2 ZNF792 SAP130 CEBPG ZNF644 ZNF48 TEAD3 FOXK2 RERE RPLP1P6 GLRA1 PIR59999 PIR34487
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLRA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GLRA1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for GLRA1 Gene

Proteins for GLRA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for GLRA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GLRA1 Gene

  • Glycosylation at Asn66
  • Modification sites at PhosphoSitePlus

Other Protein References for GLRA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GLRA1

No data available for DME Specific Peptides for GLRA1 Gene

Domains & Families for GLRA1 Gene

Gene Families for GLRA1 Gene

HGNC:
IUPHAR :

Protein Domains for GLRA1 Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 of 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:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 11929858
GO:0008270 zinc ion binding IMP 16144831
GO:0016594 glycine binding 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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP 11973623
GO:0009897 external side of plasma membrane IEA --
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

1 KEGG pathway for GLRA1 Gene
1 GeneGo (Thomson Reuters) pathway 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 8298642
GO:0002087 regulation of respiratory gaseous exchange by neurological system process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma antagonist, Target, agonist 150
Enflurane Approved, Vet_approved Pharma Target, agonist 2
Isoflurane Approved, Vet_approved Pharma agonist, Target 171
Sevoflurane Approved, Vet_approved Pharma antagonist, Target, agonist 508
Ethanol Approved Pharma Target, agonist 2137

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

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

(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

(1) ApexBio Compounds for GLRA1 Gene

Compound Action Cas Number
Hypotaurine 300-84-5
genes like me logo Genes that share compounds with GLRA1: view

Drug Products

Transcripts for GLRA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLRA1 Gene

mRNA expression in normal human tissues for GLRA1 Gene
mRNA expression by BioGPS for GLRA1 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for GLRA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLRA1 Gene:

GLRA1

SOURCE GeneReport for Unigene cluster for GLRA1 Gene:

Hs.121490

Evidence on tissue expression from TISSUES for GLRA1 Gene

  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLRA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • bronchus
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GLRA1: view

Primer 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 34 35
  • 99.85 (n)
oppossum
(Monodelphis domestica)
 Mammalia GLRA1 35
  • 98 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GLRA1 35
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GLRA1 34 35
  • 93.29 (n)
cow
(Bos Taurus)
 Mammalia GLRA1 34 35
  • 92.12 (n)
mouse
(Mus musculus)
 Mammalia Glra1 34 16 35
  • 90.72 (n)
rat
(Rattus norvegicus)
 Mammalia Glra1 34
  • 90.2 (n)
chicken
(Gallus gallus)
 Aves GLRA1 34 35
  • 84.11 (n)
lizard
(Anolis carolinensis)
 Reptilia GLRA1 35
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia glra1 34
  • 78.92 (n)
zebrafish
(Danio rerio)
 Actinopterygii glra1 34 35
  • 78.16 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7228 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001434 34
  • 51.52 (n)
fruit fly
(Drosophila melanogaster)
 Insecta GluClalpha 36 34
  • 50.64 (n)
Rdl 36
  • 44 (a)
ort 36
  • 40 (a)
CG6927 36
  • 32 (a)
CG11340 36
  • 30 (a)
CG7589 36
  • 30 (a)
worm
(Caenorhabditis elegans)
 Secernentea glc-3 36 34
  • 51.86 (n)
T24D8.1 36
  • 39 (a)
avr-14 36
  • 38 (a)
glc-1 36
  • 38 (a)
W10G11.16 36
  • 38 (a)
C39B10.2 36
  • 37 (a)
glc-2 36
  • 37 (a)
Y39A3B.2 36
  • 37 (a)
gbr-5 36
  • 36 (a)
F11H8.2 36
  • 35 (a)
gbr-4 36
  • 35 (a)
F55D10.5 36
  • 34 (a)
glc-4 36
  • 33 (a)
gbr-6 36
  • 31 (a)
C53D6.3 36
  • 30 (a)
K10D6.1 36
  • 30 (a)
F58G6.4 36
  • 29 (a)
Y71D11A.5 36
  • 29 (a)
Y73F8A.2 36
  • 29 (a)
T27E9.9 36
  • 29 (a)
F09G2.5 36
  • 27 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 58 (a)
 OneToMany
Species where no ortholog for GLRA1 was found in the sources mined by GeneCards:
  • 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

Paralogs for GLRA1 Gene

(24) SIMAP similar genes for GLRA1 Gene using alignment to 3 proteins:

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
rs121918408 Pathogenic, Hyperekplexia 1 (HKPX1) [MIM:149400], Hyperekplexia 1 (HKPX1) [MIM:149400] 151,851,406(-) CTCTC(A/G/T)AGCAT reference, missense
rs121918409 Pathogenic, Hyperekplexia 1 (HKPX1) [MIM:149400] 151,851,487(-) CTGGA(A/T)CAACA reference, missense
rs121918410 Pathogenic, Hyperekplexia 1 (HKPX1) [MIM:149400] 151,829,060(-) GTCCT(A/C/G)TGTGA reference, missense
rs121918411 Pathogenic, Hyperekplexia 1 (HKPX1) [MIM:149400] 151,851,420(-) ACCCA(C/G/T)AGCTC reference, missense
rs121918412 Pathogenic, Hyperekplexia 1 (HKPX1) [MIM:149400] 151,851,392(-) TGCCC(A/G)AGGTA reference, missense

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
esv3308545 CNV mobile element insertion 20981092
esv3430968 CNV insertion 20981092
esv3570501 CNV loss 25503493
esv3607187 CNV loss 21293372
nsv1073924 CNV deletion 25765185
nsv1140582 CNV deletion 24896259
nsv600039 CNV loss 21841781
nsv980746 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
GLRA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLRA1

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

Disorders for GLRA1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperekplexia, hereditary 1, autosomal dominant or recessive
  • stiff-person syndrome
hyperekplexia
  • stiff-person syndrome
glra1-related hyperekplexia
hyperekplexia 1
  • stiff-person syndrome
sporadic hyperekplexia
- 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:25730860, ECO:0000269 PubMed:7611730, ECO:0000269 PubMed:7881416, ECO:0000269 PubMed:7925268, ECO:0000269 PubMed:7981700, ECO:0000269 PubMed:8298642, ECO:0000269 PubMed:8571969, ECO:0000269 PubMed:8733061, ECO:0000269 PubMed:9009272, 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 22 64
  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 22 25 64
  3. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (PMID: 9920650) Saul B. … Becker C.-M. (J. Neurosci. 1999) 3 4 22 64
  4. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (PMID: 10514101) Vergouwe M.N. … Frants R.R. (Ann. Neurol. 1999) 3 4 22 64
  5. A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (PMID: 8571969) Milani N. … Larizza L. (Am. J. Hum. Genet. 1996) 3 4 22 64

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