GLRA1 - Gene info - The Human Protein Atlas

Gene name

GLRA1 (HGNC Symbol)

Synonyms

STHE

Description

Glycine receptor, alpha 1 (HGNC Symbol)

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

Chromosome

Cytoband

q33.1

Chromosome location (bp)

151202074 - 151304403

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000145888 (version 75.37)

Entrez gene

2741

UniProt

P23415 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GLRA1-001

ENSP00000274576
ENST00000274576

P23415
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P23415 [Direct mapping]
Glycine receptor subunit alpha-1
Q14C71 [Target identity:81%; Query identity:100%]
GLRA1 protein; Glycine receptor subunit alpha-1

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   4TM proteins predicted by MDM
   TMHMM predicted membrane proteins
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   # TM segments-based
Disease related genes
FDA approved drug targets
   Small molecule drugs

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GO:0001508 [regulation of action potential]
GO:0001964 [startle response]
GO:0002087 [regulation of respiratory gaseous exchange by neurological system process]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005887 [integral to plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0006936 [muscle contraction]
GO:0007218 [neuropeptide signaling pathway]
GO:0007340 [acrosome reaction]
GO:0007601 [visual perception]
GO:0007628 [adult walking behavior]
GO:0009897 [external side of plasma membrane]
GO:0016020 [membrane]
GO:0016021 [integral to membrane]
GO:0016594 [glycine binding]
GO:0016934 [extracellular-glycine-gated chloride channel activity]
GO:0022824 [transmitter-gated ion channel activity]
GO:0030054 [cell junction]
GO:0030977 [taurine binding]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0050884 [neuromuscular process controlling posture]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
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:2000344 [positive regulation of acrosome reaction]

449

51.7

Yes

GLRA1-002

ENSP00000430595
ENST00000462581

E5RJ70
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E5RJ70 [Target identity:100%; Query identity:100%]
Glycine receptor subunit alpha-1

4.8

GLRA1-004

ENSP00000411593
ENST00000455880

P23415
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P23415 [Direct mapping]
Glycine receptor subunit alpha-1

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GO:0001508 [regulation of action potential]
GO:0001964 [startle response]
GO:0002087 [regulation of respiratory gaseous exchange by neurological system process]
GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005783 [endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005887 [integral to plasma membrane]
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:0009897 [external side of plasma membrane]
GO:0016020 [membrane]
GO:0016021 [integral to membrane]
GO:0016594 [glycine binding]
GO:0016934 [extracellular-glycine-gated chloride channel activity]
GO:0022824 [transmitter-gated ion channel activity]
GO:0030054 [cell junction]
GO:0030977 [taurine binding]
GO:0034220 [ion transmembrane transport]
GO:0034707 [chloride channel complex]
GO:0042391 [regulation of membrane potential]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043576 [regulation of respiratory gaseous exchange]
GO:0045211 [postsynaptic membrane]
GO:0050884 [neuromuscular process controlling posture]
GO:0050905 [neuromuscular process]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
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:2000344 [positive regulation of acrosome reaction]

457

52.6

Yes

GLRA1-201

ENSP00000445913
ENST00000545569

Q14C71
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Q14C71 [Target identity:100%; Query identity:100%]
GLRA1 protein; Glycine receptor subunit alpha-1

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   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   4TM proteins predicted by MDM
Predicted membrane proteins
   Prediction method-based
   # TM segments-based

Show » « Hide

GO:0005230 [extracellular ligand-gated ion channel activity]
GO:0005887 [integral to plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0016021 [integral to membrane]
GO:0016594 [glycine binding]
GO:0022824 [transmitter-gated ion channel activity]
GO:0030054 [cell junction]
GO:0045202 [synapse]

366

42.5

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.