GLRA1

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. Two transcript variants encoding different isoforms have been found for this gene

Full Name

glycine receptor, alpha 1

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).

Biological Process

Acrosome reaction Source: Ensembl
Action potential Source: Ensembl
Adult walking behavior Source: Ensembl
Cellular response to amino acid stimulus Source: UniProtKB
Cellular response to ethanol Source: UniProtKB
Cellular response to zinc ion Source: UniProtKB
Chemical synaptic transmission Source: GO_Central
Chloride transmembrane transport Source: UniProtKB
Chloride transport Source: UniProtKB
Inhibitory postsynaptic potential Source: UniProtKB
Ion transmembrane transport Source: GO_Central
Ion transport Source: UniProtKB
Muscle contraction Source: UniProtKB
Negative regulation of transmission of nerve impulse Source: UniProtKB
Nervous system process Source: GO_Central
Neuromuscular process controlling posture Source: Ensembl
Neuropeptide signaling pathway Source: UniProtKB
Positive regulation of acrosome reaction Source: UniProtKB
Regulation of membrane potential Source: MGI
Regulation of respiratory gaseous exchange by nervous system process Source: Ensembl
Response to alcohol Source: UniProtKB
Response to amino acid Source: GO_Central
Righting reflex Source: Ensembl
Signal transduction Source: GO_Central
Startle response Source: UniProtKB
Synaptic transmission, glycinergic Source: UniProtKB
Visual perception Source: Ensembl

Cellular Location

Postsynaptic cell membrane; Cell membrane; Synapse; Perikaryon; Dendrite

Involvement in disease

Hyperekplexia 1 (HKPX1):
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.

Topology

Extracellular: 29-250
Helical: 251-272
Cytoplasmic: 273-277
Helical: 278-298
Extracellular: 299-309
Helical: 310-330
Cytoplasmic: 331-425
Helical: 426-446
Extracellular: 447-457