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... See more...

Aliases for GLRA1 Gene

Aliases for GLRA1 Gene

  • Glycine Receptor Alpha 1 2 3 5
  • Glycine Receptor Strychnine-Binding Subunit 3 4
  • Glycine Receptor Subunit Alpha-1 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 1 and Hyperekplexia. Among its related pathways are Peptide ligand-binding receptors and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and extracellularly glycine-gated chloride channel activity. An important paralog of this gene is GLRA3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GLRA1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLRA1 Gene

Genomics for GLRA1 Gene

GeneHancer (GH) Regulatory Elements for GLRA1 Gene

Promoters and enhancers for GLRA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J151925 Promoter 1.4 EPDnew Ensembl 500.7 +0.1 137 0.3 ZBTB40 REST KDM6A ZBTB11 AFF1 SAP30 ZBTB25 RCOR1 TGIF2 TEAD1 GLRA1 lnc-G3BP1-5 RPLP1P6 piR-62070
GH05J151924 Promoter 1 EPDnew 500.7 -0.1 -63 0.1 REST KDM6A ZBTB11 SAP30 RCOR1 HDAC2 CTBP1 MIER1 KMT2B SIN3A GLRA1 lnc-G3BP1-5 lnc-G3BP1-6
GH05J151947 Enhancer 0.3 Ensembl 11.7 -23.2 -23234 1 POLR2A SMARCA4 LINC01933 GLRA1 lnc-G3BP1-6 piR-52368-128
GH05J151949 Enhancer 0.2 Ensembl 11.7 -24.5 -24535 0.4 LINC01933 GLRA1 GPX3 RPLP1P6 lnc-G3BP1-6 piR-52368-128
GH05J151821 Enhancer 0.8 FANTOM5 1.5 +103.5 103481 0.3 FOXK2 TCF7 ZBTB7A SKI REST TEAD1 TBX3 FOXA2 SAP130 CREM RPLP1P6 GLRA1 piR-36954 piR-41488
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLRA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLRA1

Top Transcription factor binding sites by QIAGEN in the GLRA1 gene promoter:
  • AP-4
  • COMP1
  • E47
  • FOXO1a
  • ITF-2
  • NF-1
  • RORalpha1
  • Sox9
  • Tal-1beta

Genomic Locations for GLRA1 Gene

Genomic Locations for GLRA1 Gene
chr5:151,822,513-151,924,866
(GRCh38/hg38)
Size:
102,354 bases
Orientation:
Minus strand
chr5:151,202,074-151,304,403
(GRCh37/hg19)
Size:
102,330 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

Post-translational modifications for GLRA1 Gene

  • Glycosylation at Asn66
  • Modification sites at PhosphoSitePlus

Other Protein References for GLRA1 Gene

No data available for DME Specific Peptides for GLRA1 Gene

Domains & Families for GLRA1 Gene

Gene Families for GLRA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for GLRA1 Gene

Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Glycine receptor alpha 1 subunit signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLRA1 Gene

GenScript: Design optimal peptide antigens:
  • Glycine receptor strychnine-binding subunit (GLRA1_HUMAN)

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

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).
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 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};
GENATLAS Biochemistry:
glycine receptor,alpha 1 subunit,inhibitory

Phenotypes From GWAS Catalog for GLRA1 Gene

Gene Ontology (GO) - Molecular Function for GLRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IBA 21873635
GO:0005254 contributes_to chloride channel activity IBA 21873635
GO:0005515 protein binding IPI 11929858
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

Clone 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 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GLRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IMP 11973623
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GLRA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLRA1 Gene

Pathways & Interactions for GLRA1 Gene

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

Pathways by source for GLRA1 Gene

1 GeneGo (Thomson Reuters) pathway for GLRA1 Gene
  • Neurophysiological process PGE2-induced pain processing

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:0006811 ion transport IDA 2155780
GO:0006820 anion transport IEA --
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

(52) 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 Target, agonist, antagonist 204
Enflurane Approved, Investigational, Vet_approved Pharma Target, agonist 2
Isoflurane Approved, Vet_approved Pharma Target, agonist 114
Sevoflurane Approved, Vet_approved Pharma Target, agonist, antagonist 694
Taurine Approved Nutra Target, agonist Non-selective, endogenous glycine receptor partial agonist 43

(4) 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, Potentiation, Allosteric regulator, Full agonist, Activator, Channel blocker
H<sup>+</sup> (extracellular)
Activator, Inhibition, Allosteric regulator, Antagonist, Gating inhibitor, Channel blocker, Potentiation
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Perfluoroacetic acid
  • Trifluoressigsaeure
  • Trifluoroacetate
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

mRNA/cDNA for GLRA1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for GLRA1 Gene

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



Protein tissue co-expression partners for GLRA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLRA1

SOURCE GeneReport for Unigene cluster for GLRA1 Gene:

Hs.121490

Evidence on tissue expression from TISSUES for GLRA1 Gene

  • Nervous system(2.2)

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
Regions:
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

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 31 30
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLRA1 31
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRA1 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLRA1 31 30
  • 93.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLRA1 31 30
  • 92.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glra1 17 31 30
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Glra1 30
  • 90.2 (n)
chicken
(Gallus gallus)
Aves GLRA1 31 30
  • 84.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLRA1 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glra1 30
  • 78.92 (n)
zebrafish
(Danio rerio)
Actinopterygii glra1 31 30 30
  • 78.16 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7228 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001434 30
  • 51.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta GluClalpha 32 30
  • 50.64 (n)
Rdl 32
  • 44 (a)
ort 32
  • 40 (a)
CG6927 32
  • 32 (a)
CG11340 32
  • 30 (a)
CG7589 32
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea glc-3 32 30
  • 51.86 (n)
T24D8.1 32
  • 39 (a)
glc-1 32
  • 38 (a)
W10G11.16 32
  • 38 (a)
avr-14 32
  • 38 (a)
glc-2 32
  • 37 (a)
C39B10.2 32
  • 37 (a)
Y39A3B.2 32
  • 37 (a)
gbr-5 32
  • 36 (a)
gbr-4 32
  • 35 (a)
F11H8.2 32
  • 35 (a)
F55D10.5 32
  • 34 (a)
glc-4 32
  • 33 (a)
gbr-6 32
  • 31 (a)
K10D6.1 32
  • 30 (a)
C53D6.3 32
  • 30 (a)
Y71D11A.5 32
  • 29 (a)
T27E9.9 32
  • 29 (a)
Y73F8A.2 32
  • 29 (a)
F58G6.4 32
  • 29 (a)
F09G2.5 32
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GLRA1: view image

Paralogs for GLRA1 Gene

Variants for GLRA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLRA1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
645318 Uncertain Significance: Hyperekplexia 1 151,822,809(-) C/A MISSENSE_VARIANT
645506 Uncertain Significance: Hyperekplexia 1 151,892,379(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
646104 Uncertain Significance: Hyperekplexia 1 151,822,824(-) G/A MISSENSE_VARIANT
649707 Uncertain Significance: Hyperekplexia 1 151,822,770(-) A/G MISSENSE_VARIANT
651584 Uncertain Significance: Hyperekplexia 1 151,851,457(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GLRA1 Gene

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)

Additional Variant Information for GLRA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GLRA1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GLRA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperekplexia 1
  • hkpx1
hyperekplexia
  • startle disease, familial
stiff-person syndrome
  • sps
sporadic hyperekplexia
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
- 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.

Additional Disease Information for GLRA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JJ (Nature genetics 1993) 2 3 4 23 54
  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 CM … Harrison NL (Biochemistry 2004) 3 23 26 54
  3. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (PMID: 9920650) Saul B … Becker CM (The Journal of neuroscience : the official journal of the Society for Neuroscience 1999) 3 4 23 54
  4. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (PMID: 10514101) Vergouwe MN … Frants RR (Annals of neurology 1999) 3 4 23 54
  5. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (PMID: 8733061) Elmslie FV … Rees M (Journal of medical genetics 1996) 3 4 23 54

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Sources for GLRA1 Gene