Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

GLRA1_HUMAN

GO
G2C
SynaptomeDB

Glycine receptors are ligand-gated chloride channels (PubMed, PubMed). Channel opening is triggered by extracellular glycine (PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed). Channel opening is also triggered by taurine and beta-alanine (PubMed, PubMed). Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization (PubMed). Plays an important role in the down-regulation of neuronal excitability (PubMed, PubMed). Contributes to the generation of inhibitory postsynaptic currents (PubMed). Channel activity is potentiated by ethanol (PubMed). Potentiation of channel activity by intoxicating levels of ethanol contribute to the sedative effects of ethanol . [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
272 Ile Asn Hyperekplexia1(HKPX1) -
294 Gln His Hyperekplexia1(HKPX1) -
299 Arg Leu Hyperekplexia1(HKPX1) -
299 Arg Gln Hyperekplexia1(HKPX1) -
304 Lys Glu Hyperekplexia1(HKPX1) -
307 Tyr Cys Hyperekplexia1(HKPX1) -
278 Pro Thr Hyperekplexia1(HKPX1) -
280 Arg His Hyperekplexia1(HKPX1) -
428 Arg His Hyperekplexia1(HKPX1) -
93 Arg Trp Hyperekplexia1(HKPX1) -
100 Arg Cys Hyperekplexia1(HKPX1) -
246 Arg Trp Hyperekplexia1(HKPX1) -
254 Gln Glu Hyperekplexia1(HKPX1) -
258 Pro Ser Hyperekplexia1(HKPX1) -
308 Val Met Hyperekplexia1(HKPX1) -
319 Leu Pro Hyperekplexia1(HKPX1) -
424 Asp Ala Hyperekplexia1(HKPX1) -
450 Arg His Hyperekplexia1(HKPX1) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in GLRA1_HUMAN
GO:0046872 metal ion binding 75.0000 4 yes
GO:0035639 purine ribonucleoside triphosphate binding 50.0000 4 no
GO:0005216 ion channel activity 50.0000 4 yes
GO:0005230 extracellular ligand-gated ion channel activity 50.0000 6 yes
GO:0005231 excitatory extracellular ligand-gated ion channel activity 50.0000 7 yes
GO:0005237 inhibitory extracellular ligand-gated ion channel activity 50.0000 7 yes
GO:0005253 anion channel activity 50.0000 5 yes
GO:0005254 chloride channel activity 50.0000 6 yes
GO:0008270 zinc ion binding 50.0000 6 yes
GO:0008509 anion transmembrane transporter activity 50.0000 4 yes
GO:0015103 inorganic anion transmembrane transporter activity 50.0000 4 yes
GO:0015108 chloride transmembrane transporter activity 50.0000 5 yes
GO:0015267 channel activity 50.0000 4 yes
GO:0015276 ligand-gated ion channel activity 50.0000 5 yes
GO:0016594 glycine binding 50.0000 4 yes
GO:0016597 amino acid binding 50.0000 4 yes
GO:0016933 extracellularly glycine-gated ion channel activity 50.0000 8 yes
GO:0016934 extracellularly glycine-gated chloride channel activity 50.0000 7 yes
GO:0022824 transmitter-gated ion channel activity 50.0000 5 yes
GO:0022834 ligand-gated channel activity 50.0000 6 yes
GO:0022835 transmitter-gated channel activity 50.0000 4 yes
GO:0022836 gated channel activity 50.0000 5 yes
GO:0031406 carboxylic acid binding 50.0000 4 yes
GO:0043210 alkanesulfonate binding 50.0000 4 yes
GO:0046914 transition metal ion binding 50.0000 5 yes
GO:0098960 postsynaptic neurotransmitter receptor activity 50.0000 4 yes
GO:0099095 ligand-gated anion channel activity 50.0000 6 yes
GO:0099529 neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential 50.0000 5 yes
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential 50.0000 6 yes
GO:0005524 ATP binding 50.0000 5 no
GO:0017076 purine nucleotide binding 50.0000 4 no
GO:0030554 adenyl nucleotide binding 50.0000 5 no
GO:0032555 purine ribonucleotide binding 50.0000 4 no
GO:0032559 adenyl ribonucleotide binding 50.0000 5 no

Biological process

Term Name % Distance from top the of the tree Annotated in GLRA1_HUMAN
GO:0007268 chemical synaptic transmission 75.0000 6 yes
GO:0010038 response to metal ion 75.0000 4 yes
GO:0098916 anterograde trans-synaptic signaling 75.0000 5 yes
GO:0099537 trans-synaptic signaling 75.0000 4 yes
GO:0001508 action potential 50.0000 4 yes
GO:0002087 regulation of respiratory gaseous exchange by nervous system process 50.0000 4 yes
GO:0006811 ion transport 50.0000 4 yes
GO:0006820 anion transport 50.0000 5 yes
GO:0006821 chloride transport 50.0000 7 yes
GO:0006936 muscle contraction 50.0000 4 yes
GO:0007218 neuropeptide signaling pathway 50.0000 4 yes
GO:0007600 sensory perception 50.0000 4 yes
GO:0007601 visual perception 50.0000 6 yes
GO:0007628 adult walking behavior 50.0000 5 yes
GO:0008344 adult locomotory behavior 50.0000 4 yes
GO:0010043 response to zinc ion 50.0000 5 yes
GO:0010243 response to organonitrogen compound 50.0000 4 yes
GO:0010646 regulation of cell communication 50.0000 4 yes
GO:0010648 negative regulation of cell communication 50.0000 5 yes
GO:0015698 inorganic anion transport 50.0000 6 yes
GO:0023057 negative regulation of signaling 50.0000 4 yes
GO:0031644 regulation of nervous system process 50.0000 5 yes
GO:0031645 negative regulation of nervous system process 50.0000 5 yes
GO:0043200 response to amino acid 50.0000 4 yes
GO:0043576 regulation of respiratory gaseous exchange 50.0000 4 yes
GO:0044057 regulation of system process 50.0000 4 yes
GO:0044065 regulation of respiratory system process 50.0000 5 yes
GO:0045471 response to ethanol 50.0000 5 yes
GO:0048523 negative regulation of cellular process 50.0000 4 yes
GO:0050884 neuromuscular process controlling posture 50.0000 5 yes
GO:0050905 neuromuscular process 50.0000 4 yes
GO:0050953 sensory perception of light stimulus 50.0000 5 yes
GO:0051241 negative regulation of multicellular organismal process 50.0000 4 yes
GO:0051969 regulation of transmission of nerve impulse 50.0000 4 yes
GO:0051970 negative regulation of transmission of nerve impulse 50.0000 5 yes
GO:0060012 synaptic transmission, glycinergic 50.0000 7 yes
GO:0060013 righting reflex 50.0000 4 yes
GO:0060046 regulation of acrosome reaction 50.0000 4 yes
GO:0060078 regulation of postsynaptic membrane potential 50.0000 4 yes
GO:0060080 inhibitory postsynaptic potential 50.0000 5 yes
GO:0071229 cellular response to acid chemical 50.0000 4 yes
GO:0071230 cellular response to amino acid stimulus 50.0000 5 yes
GO:0071241 cellular response to inorganic substance 50.0000 4 yes
GO:0071248 cellular response to metal ion 50.0000 5 yes
GO:0071294 cellular response to zinc ion 50.0000 6 yes
GO:0071310 cellular response to organic substance 50.0000 4 yes
GO:0071361 cellular response to ethanol 50.0000 6 yes
GO:0071417 cellular response to organonitrogen compound 50.0000 4 yes
GO:0090659 walking behavior 50.0000 4 yes
GO:0097305 response to alcohol 50.0000 4 yes
GO:0097306 cellular response to alcohol 50.0000 5 yes
GO:0098656 anion transmembrane transport 50.0000 4 yes
GO:0098660 inorganic ion transmembrane transport 50.0000 4 yes
GO:0098661 inorganic anion transmembrane transport 50.0000 5 yes
GO:1901699 cellular response to nitrogen compound 50.0000 4 yes
GO:1901701 cellular response to oxygen-containing compound 50.0000 4 yes
GO:1902476 chloride transmembrane transport 50.0000 6 yes
GO:2000243 positive regulation of reproductive process 50.0000 4 yes
GO:2000344 positive regulation of acrosome reaction 50.0000 5 yes
GO:0008104 protein localization 50.0000 4 no

Disease

Term Name % Distance from top the of the tree Annotated in GLRA1_HUMAN
DOID:0060695 hyperekplexia 50.0000 3 yes
DOID:0060696 hyperekplexia 1 50.0000 4 yes
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
GEPH_HUMAN [view entry] [view interactions] Low throughput yes yes
KIF5A_HUMAN [view entry] [view interactions] Low throughput yes yes
GLRA1_HUMAN [view entry] [view interactions] Low throughput yes no
HUWE1_HUMAN [view interactions] Low throughput no yes
VINEX_HUMAN [view interactions] High throughput no no
MAGD1_HUMAN [view interactions] High throughput no no
P53_HUMAN [view interactions] High throughput no no
SC6A5_HUMAN [view interactions] Computational no no
GARS_HUMAN [view interactions] Computational no yes