Version 5.4
Homo sapiens Gene: GLRA1
Summary
InnateDB Gene IDBG-54666.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLRA1
Gene Name glycine receptor, alpha 1
Synonyms HKPX1; STHE
Species Homo sapiens
Ensembl Gene ENSG00000145888
Encoded Proteins
IDBP-54668
glycine receptor, alpha 1
IDBP-380543
glycine receptor, alpha 1
IDBP-478680
glycine receptor, alpha 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:151822513-151924842
Strand Reverse strand
Band q33.1
Transcripts
ENST00000274576 ENSP00000274576
ENST00000455880 ENSP00000411593
ENST00000462581 ENSP00000430595
ENST00000471351
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:0001508 action potential
GO:0001964 startle response
GO:0002087 regulation of respiratory gaseous exchange by neurological system process
GO:0006810 transport
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0006936 muscle contraction
GO:0007218 neuropeptide signaling pathway
GO:0007268 synaptic transmission
GO:0007340 acrosome reaction
GO:0007601 visual perception
GO:0007628 adult walking behavior
GO:0034220 ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0043576 regulation of respiratory gaseous exchange
GO:0050884 neuromuscular process controlling posture
GO:0050905 neuromuscular process
GO:0051970 negative regulation of transmission of nerve impulse
GO:0055085 transmembrane transport
GO:0060012 synaptic transmission, glycinergic
GO:0060013 righting reflex
GO:0060080 regulation of inhibitory postsynaptic membrane potential
GO:1902476 chloride transmembrane transport
GO:2000344 positive regulation of acrosome reaction
Cellular Component
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side 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
GO:0060077 inhibitory synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000000263
View Gene Order
ENSBTAG00000014395
Not yet available
Pathways
NETPATH
REACTOME
REACT_25387
Ligand-gated ion channel transport pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.121490
RefSeq NM_000171 NM_001146040 NM_001292000
HUGO
OMIM
CCDS CCDS4320 CCDS54942
HPRD 00719
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca