InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLRA1

Summary

InnateDB Protein

IDBP-54668.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GLRA1

Protein Name

glycine receptor, alpha 1

Synonyms

HKPX1; STHE;

Species

Homo sapiens

Ensembl Protein

ENSP00000274576

InnateDB Gene

IDBG-54666 (GLRA1)

Protein Structure

UniProt Annotation

Function

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).

Subcellular Localization

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Disease Associations

Hyperekplexia 1 (HKPX1) [MIM:149400]: 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. {ECO:0000269PubMed:10514101, ECO:0000269PubMed:7611730, ECO:0000269PubMed:7881416, ECO:0000269PubMed:7981700, ECO:0000269PubMed:8298642, ECO:0000269PubMed:8571969, ECO:0000269PubMed:8733061, ECO:0000269PubMed:9067762, ECO:0000269PubMed:9920650, ECO:0000269Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005230	extracellular ligand-gated ion channel activity
GO:0005515	protein binding
GO:0016594	glycine binding
GO:0016934	extracellular-glycine-gated chloride channel activity
GO:0022824	transmitter-gated ion channel activity
GO:0030977	taurine binding

Biological Process

GO:0001964	startle response
GO:0006810	transport
GO:0006811	ion transport
GO:0006821	chloride transport
GO:0006936	muscle contraction
GO:0007218	neuropeptide signaling pathway
GO:0034220	ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0051970	negative regulation of transmission of nerve impulse
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport
GO:2000344	positive regulation of acrosome reaction

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0034707	chloride channel complex
GO:0043231	intracellular membrane-bounded organelle
GO:0045202	synapse
GO:0045211	postsynaptic membrane

Protein Structure and Domains

PDB ID

InterPro

IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
IPR006201 Neurotransmitter-gated ion-channel
IPR006202 Neurotransmitter-gated ion-channel ligand-binding
IPR008127 Glycine receptor alpha
IPR008128 Glycine receptor alpha1

PFAM

PF02932
PF02931

PRINTS

PR00253
PR00252
PR01673
PR01674

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P23415