GLRA1 Gene Summary [Human]
The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which 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. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | GLRA1 |
| Official Name | glycine receptor alpha 1 [Source:HGNC Symbol;Acc:HGNC:4326] |
| Ensembl ID | ENSG00000145888 |
| Bio databases IDs | |
| Aliases | glycine receptor alpha 1, stiff person syndrome |
| Synonyms | B230397M16RIK, Gira1, glycine receptor alpha 1, glycine receptor, alpha 1, glycine receptor, alpha 1 subunit, glycine receptor α 1, glycine receptor, α 1, glycine receptor, α 1 subunit, GLYRA1, HKPX1, nmf11, oscillator, ot, spasmodic, spd, STHE |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GLRA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycine-gated ion channel
- transmembrane domain of Cys-loop neurotransmitter-gated ion channels
- channel/pore class transporter
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- identical protein binding
- ion channel
- neurotransmitter receptor
- binding protein
- LGIC_ECD
- Neurotransmitter-gated ion-channel transmembrane region
- zinc ion binding
- glycine binding
- Neurotransmitter-gated ion-channel ligand binding domain
- ligand-gated ion channel
- glycine-gated chloride channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- infection
- hepatocellular carcinoma
- chronic kidney disease
- pancreatic adenocarcinoma
- autosomal recessive hyperekplexia type 1
- cognitive impairment
- postoperative pain
- acute respiratory distress syndrome
- hereditary hyperekplexia
regulates
- chloride
- ion
- anion
role in cell
- response by
- transmembrane potential
- action potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- intracellular membrane-bounded organelle
- cell surface
- intracellular space
- postsynaptic region
- cellular membrane
- Endoplasmic Reticulum
- plasma membrane extracellular face
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- neurites
- synapse
- perikaryon
- axons
- dendrites
- axon terminals
- inhibitory synapse
- dendritic shafts
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GLRA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission, glycinergic
- righting reflex
- regulation of excitatory postsynaptic membrane potential
- acrosome reaction
- synaptic transmission
- regulation of respiratory gaseous exchange by neurological system process
- visual perception
- chloride transport
- cellular response to ethanol
- cellular response to amino acid stimulus
- neuromuscular process controlling posture
- adult walking behavior
- neuropeptide signaling pathway
- negative regulation of transmission of nerve impulse
- ion transport
- regulation of membrane potential
- cellular response to zinc ion
- startle response
- muscle contraction
- positive regulation of acrosome reaction
- regulation of inhibitory postsynaptic membrane potential
- response to alcohol
- regulation of action potential in neuron
Cellular Component
Where in the cell the gene product is active
- inhibitory synapse
- external side of plasma membrane
- synapse
- neuronal cell body
- perikaryon
- neuron projection
- plasma membrane
- chloride channel complex
- dendrite
- postsynaptic membrane
- intracellular membrane-bounded organelle
- membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- transmembrane signaling receptor activity
- extracellular-glycine-gated chloride channel activity
- protein binding
- taurine binding
- neurotransmitter receptor activity
- excitatory extracellular ligand-gated ion channel activity
- glycine binding
- chloride channel activity