glycine receptor, alpha 1

Symbol

GLRA1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
glra1 Danio rerio
Glra1 Mus musculus
Glra1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0001508 regulation of action potential biological_process
GO:0001964 startle response biological_process
GO:0002087 regulation of respiratory gaseous exchange by neurological system process biological_process
GO:0006811 ion transport biological_process
GO:0006821 chloride transport biological_process
GO:0006936 muscle contraction biological_process
GO:0007218 neuropeptide signaling pathway biological_process
GO:0007268 synaptic transmission biological_process
GO:0007601 visual perception biological_process
GO:0007628 adult walking behavior biological_process
GO:0034220 ion transmembrane transport biological_process
GO:0042391 regulation of membrane potential biological_process
GO:0043576 regulation of respiratory gaseous exchange biological_process
GO:0050884 neuromuscular process controlling posture biological_process
GO:0051970 negative regulation of transmission of nerve impulse biological_process
GO:0055085 transmembrane transport biological_process
GO:0060012 synaptic transmission, glycinergic biological_process
GO:0060013 righting reflex biological_process
GO:0060080 regulation of inhibitory postsynaptic membrane potential biological_process
GO:2000344 positive regulation of acrosome reaction biological_process
GO:0005622 intracellular cellular_component
GO:0005624 membrane fraction cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005887 integral to plasma membrane cellular_component
GO:0009897 external side of plasma membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0030054 cell junction cellular_component
GO:0034707 chloride channel complex cellular_component
GO:0043231 intracellular membrane-bounded organelle cellular_component
GO:0045202 synapse cellular_component
GO:0045211 postsynaptic membrane cellular_component
GO:0004872 receptor activity molecular_function
GO:0005216 ion channel activity molecular_function
GO:0005230 extracellular ligand-gated ion channel activity molecular_function
GO:0005515 protein binding molecular_function
GO:0016594 glycine binding molecular_function
GO:0016934 extracellular-glycine-gated chloride channel activity molecular_function
GO:0022824 transmitter-gated ion channel activity molecular_function
GO:0030977 taurine binding molecular_function