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GLRA1 glycine receptor, alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000171 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001146040 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001292000 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_005268412 PREDICTED: Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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Related Services

Gene Symbol GLRA1
Entrez Gene ID 2741
Full Name glycine receptor, alpha 1
Synonyms HKPX1, STHE
General protein information
Preferred Names
glycine receptor subunit alpha-1
Names
glycine receptor subunit alpha-1
glycine receptor 48 kDa subunit
glycine receptor strychnine-binding subunit
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q32

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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].
Disorder

MIM: 138491

Startle disease/hyperekplexia, autosomal dominant, 149400 (3);

mRNA Protein Product Sequence Price Select
NM_000171, 225690547 NP_000162, 119372310 glycine receptor subunit alpha-1 isoform 2 precursor ORF Sequence $360.00
NM_001146040, 225903366 NP_001139512, 225903367 glycine receptor subunit alpha-1 isoform 1 precursor ORF Sequence $550.00
NM_001292000, 635172879 NP_001278929, 635172880 glycine receptor subunit alpha-1 isoform 3 ORF Sequence $400.00
XM_005268412, 530380479 XP_005268469, 530380480 glycine receptor subunit alpha-1 isoform X2 ORF Sequence $300.00
KEGG
hsa04080Neuroactive ligand-receptor interaction
Reactome
REACT_15518Transmembrane transport of small molecules
REACT_25300Ion channel transport
REACT_25387Ligand-gated ion channel transport
Homo sapiens (human)GLRA1NP_001139512.1
Pan troglodytes (chimpanzee)GLRA1XP_001169235.1
Macaca mulatta (Rhesus monkey)GLRA1XP_002804635.1
Canis lupus familiaris (dog)GLRA1XP_003434572.1
Bos taurus (cattle)GLRA1NP_776746.1
Mus musculus (house mouse)Glra1NP_065238.2
Rattus norvegicus (Norway rat)Glra1NP_037265.1
Gallus gallus (chicken)GLRA1XP_425210.3
Danio rerio (zebrafish)glra1NP_571477.1
Drosophila melanogaster (fruit fly)GluClalphaNP_001262740.1
Caenorhabditis elegansavr-14NP_001020963.1
Caenorhabditis elegansglc-3NP_504441.1
Caenorhabditis elegansavr-15NP_001024076.1
Caenorhabditis elegansavr-15NP_001024077.1
Caenorhabditis elegansglc-1NP_507090.1
Xenopus (Silurana) tropicalis (western clawed frog)glra1XP_004912784.1
Process
IDNameEvidence
GO:0001508action potentialIEA
GO:0001964startle responseIMP
GO:0002087regulation of respiratory gaseous exchange by neurological system processIEA
GO:0006811ion transportIDA
GO:0006821chloride transportIDA
GO:0006936muscle contractionIMP
GO:0007218neuropeptide signaling pathwayIDA
GO:0007340acrosome reactionIEA
GO:0007601visual perceptionIEA
GO:0007628adult walking behaviorIEA
GO:0034220ion transmembrane transportTAS
GO:0042391regulation of membrane potentialIMP
GO:0050884neuromuscular process controlling postureIEA
GO:0051970negative regulation of transmission of nerve impulseIMP
GO:0055085transmembrane transportTAS
GO:0060012synaptic transmission, glycinergicIEA
GO:0060013righting reflexIEA
GO:0060080regulation of inhibitory postsynaptic membrane potentialIEA
GO:1902476chloride transmembrane transportIDA
GO:1902476chloride transmembrane transportIEA
GO:1902476chloride transmembrane transportIGI
GO:1902476chloride transmembrane transportIMP
GO:2000344positive regulation of acrosome reactionIMP
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneIDA
GO:0005887integral component of plasma membraneIMP
GO:0005887integral component of plasma membraneNAS
GO:0009897external side of plasma membraneIEA
GO:0016021integral component of membraneNAS
GO:0030054cell junctionIEA
GO:0034707chloride channel complexIEA
GO:0043231intracellular membrane-bounded organelleIDA
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0016594glycine bindingIDA
GO:0016934extracellular-glycine-gated chloride channel activityIDA
GO:0016934extracellular-glycine-gated chloride channel activityIGI
GO:0016934extracellular-glycine-gated chloride channel activityIMP
GO:0022824transmitter-gated ion channel activityIEA
GO:0030977taurine bindingIDA
GeneCards GLRA1
UniProt P23415
Vega OTTHUMG00000130121
MIM 138491
Ensembl ENSG00000145888
HGNC 4326
HPRD 00719

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GLRA1 gene?

The GLRA1 gene provides instructions for making one part, the alpha (α)1 subunit, of the glycine receptor protein. The glycine receptor is most abundant in nerve cells (neurons) in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The glycine receptor is made up of five subunits: two α1 subunits and three beta (β) subunits. The β subunit is produced from a different gene.

Receptor proteins have specific sites into which certain other molecules, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The ligand for the glycine receptor is the amino acid glycine. This molecule acts as a neurotransmitter, which is a chemical messenger that transmits signals in the nervous system.

When glycine attaches (binds) to the glycine receptor, the receptor opens to allow negatively charged chlorine atoms (chloride ions) to enter the cell. This influx of chloride ions reduces the cell's ability to transmit signals to other cells. Because they stop (inhibit) signaling, glycine receptors are known as inhibitory receptors.

Interactant

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