Glycine receptor, alpha 1

Glycine receptor subunit alpha-1 is a protein that in humans is encoded by the GLRA1 gene.^[5][6]

GLRA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MOT, 1VRY, 2M6B, 2M6I, 4X5T
Identifiers
Aliases	GLRA1, HKPX1, STHE, Glycine receptor, alpha 1, glycine receptor alpha 1
External IDs	OMIM: 138491; MGI: 95747; HomoloGene: 20083; GeneCards: GLRA1; OMA:GLRA1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q33.1 Start 151,822,513 bp[1] End 151,924,851 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B1.3|11 33.12 cM Start 55,405,064 bp[2] End 55,499,024 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans testicle hypothalamus substantia nigra C1 segment ganglionic eminence cerebellum cerebellar cortex cerebellar hemisphere gonad Top expressed in medial vestibular nucleus lumbar subsegment of spinal cord ventromedial nucleus pontine nuclei anterior horn of spinal cord dorsal tegmental nucleus facial motor nucleus deep cerebellar nuclei superior colliculus lateral hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function zinc ion binding glycine binding metal ion binding transmitter-gated ion channel activity extracellularly glycine-gated chloride channel activity protein binding extracellularly glycine-gated ion channel activity taurine binding chloride channel activity extracellular ligand-gated ion channel activity ion channel activity identical protein binding transmembrane signaling receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component integral component of membrane perikaryon postsynaptic membrane cell projection intracellular membrane-bounded organelle membrane plasma membrane synapse integral component of plasma membrane inhibitory synapse intracellular anatomical structure chloride channel complex cell junction dendrite endoplasmic reticulum external side of plasma membrane soma neuron projection calyx of Held glycinergic synapse integral component of presynaptic membrane integral component of postsynaptic specialization membrane Biological process inhibitory postsynaptic potential muscle contraction startle response neuromuscular process controlling posture cellular response to ethanol protein heterooligomerization regulation of respiratory gaseous exchange regulation of membrane potential ion transport anion transport cellular response to zinc ion regulation of respiratory gaseous exchange by nervous system process acrosome reaction positive regulation of acrosome reaction neuromuscular process cellular response to amino acid stimulus synaptic transmission, glycinergic action potential chloride transport righting reflex neuropeptide signaling pathway protein homooligomerization negative regulation of transmission of nerve impulse visual perception adult walking behavior chloride transmembrane transport response to alcohol excitatory postsynaptic potential chemical synaptic transmission ion transmembrane transport signal transduction response to amino acid nervous system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2741 14654 Ensembl ENSG00000145888 ENSMUSG00000000263 UniProt P23415 Q64018 RefSeq (mRNA) NM_000171 NM_001146040 NM_001292000 NM_001290821 NM_020492 RefSeq (protein) NP_000162 NP_001139512 NP_001278929 NP_001277750 NP_065238 Location (UCSC) Chr 5: 151.82 – 151.92 Mb Chr 11: 55.41 – 55.5 Mb PubMed search [3] [4]
Wikidata
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Function

The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed solely of alpha subunits. The GLRB gene encodes the alpha subunit of the receptor.^[7]

Clinical significance

Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle reaction.^[8][9]

See also

• Glycine receptor
• Stiff person syndrome
• Hyperekplexia