AAH74980.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Glycine receptor, alpha 1
NCBI Official Synonym Full Names
glycine receptor, alpha 1
NCBI Official Synonym Symbols
NCBI Protein Information
glycine receptor subunit alpha-1; glycine receptor 48 kDa subunit; glycine receptor strychnine-binding subunit
UniProt Protein Name
Glycine receptor subunit alpha-1
UniProt Synonym Protein Names
Glycine receptor 48 kDa subunit; Glycine receptor strychnine-binding subunit
UniProt Entry Name
GLRA1_HUMAN
NCBI Summary for 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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
UniProt Comments for GLRA1
GLRA1: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing). Defects in GLRA1 are the cause of hyperekplexia, hereditary, type 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. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub- subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter; Transporter, ion channel; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 5q32
Cellular Component: postsynaptic membrane; intracellular membrane-bound organelle; integral to plasma membrane; plasma membrane; integral to membrane; cell junction; external side of plasma membrane
Molecular Function: protein binding; transmitter-gated ion channel activity; extracellular-glycine-gated chloride channel activity; glycine binding; taurine binding
Biological Process: regulation of action potential; startle response; synaptic transmission, glycinergic; righting reflex; acrosome reaction; neurological control of breathing; chloride transport; adult walking behavior; regulation of inhibitory postsynaptic membrane potential; neuromuscular process controlling posture; regulation of membrane potential; visual perception; negative regulation of transmission of nerve impulse; muscle contraction; neuropeptide signaling pathway; ion transport; transmembrane transport
Disease: Hyperekplexia, Hereditary 1
Research Articles on GLRA1
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Products associated with anti-GLRA1 antibody
Pathways associated with anti-GLRA1 antibody
Diseases associated with anti-GLRA1 antibody
Organs/Tissues associated with anti-GLRA1 antibody
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