Recombinant Human Glycine receptor subunit alpha-1 (GLRA1), partial

Function

Subunit of heteromeric glycine-gated chloride channels (PubMed:14551753, PubMed:23994010, PubMed:25730860, PubMed:37821459). 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)

Subcellular Location

Postsynaptic cell membrane (Multi-pass membrane protein); Synapse; Perikaryon; Cell projection, dendrite; Cell membrane (Multi-pass membrane protein)

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Interacts with GLRB to form heteropentameric channels; this is probably the predominant form in vivo (PubMed:22715885, PubMed:22973015, PubMed:25445488, PubMed:35526563, PubMed:37821459). Heteropentamer composed of four GLRA1 subunits and one GLRB subunit (PubMed:37821459). Heteropentamer composed of two GLRA1 and three GLRB (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB (PubMed:22973015). Homopentamer (in vitro) (PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25730860). Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:14551753, PubMed:22715885, PubMed:22973015, PubMed:23994010, PubMed:25445488, PubMed:25730860)

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• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Ryan S.G. et al. A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. — Nat. Genet. (1994)
• Mohammadi B. et al. Kinetic analysis of recombinant mammalian alpha(1) and alpha(1)beta glycine receptor channels. — Eur. Biophys. J. (2003)
• Miller P.S. et al. Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors. — J. Biol. Chem. (2005)
• Vogel N. et al. Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor. — J. Biol. Chem. (2009)