GLRA1 - glycine receptor alpha 1 Gene

Homo sapiens

Also known as STHE; HKPX1

Gene ID: 2741 | Gene type: protein coding

About GLRA1

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,822,513-151,924,851 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 45 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

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]

GLRA1 Products(3)

mRNA	Protein	Name
NM_000171.4	NP_000162.2	glycine receptor subunit alpha-1 isoform 2 precursor
NM_001146040.2	NP_001139512.1	glycine receptor subunit alpha-1 isoform 1 precursor
NM_001292000.2	NP_001278929.1	glycine receptor subunit alpha-1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables extracellularly glycine-gated chloride channel activity	IDA IDA: Inferred from direct assay	2155780	GOA
enables extracellularly glycine-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	7920629	GOA
enables glycine binding	IDA IDA: Inferred from direct assay	2155780	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	23994010	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA IDA: Inferred from direct assay	8137830	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	8137830	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11929858	GOA
enables taurine binding	IDA IDA: Inferred from direct assay	15748848	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	16144831	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to amino acid stimulus	IDA IDA: Inferred from direct assay	16144831	GOA
involved in cellular response to ethanol	IDA IDA: Inferred from direct assay	25973519	GOA
involved in cellular response to zinc ion	IDA IDA: Inferred from direct assay	16144831	GOA
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	16144831	GOA
involved in chloride transport	IDA IDA: Inferred from direct assay	8137830	GOA
involved in monoatomic ion transport	IDA IDA: Inferred from direct assay	2155780	GOA
involved in muscle contraction	IMP IMP: Inferred from mutant phenotype	11973623	GOA
involved in negative regulation of transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	11973623	GOA
involved in neuropeptide signaling pathway	IDA IDA: Inferred from direct assay	2155780	GOA
involved in positive regulation of acrosome reaction	IMP IMP: Inferred from mutant phenotype	11751269	GOA
acts upstream of or within regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	7920629	GOA
acts upstream of or within startle response	IMP IMP: Inferred from mutant phenotype	8298642	GOA
involved in startle response	IMP IMP: Inferred from mutant phenotype	8298642	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	7506679	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	2155780	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	11973623	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLRA1 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
457 a.a.

Protein Preferred Names

Protein Names

glycine receptor subunit alpha-1

glycine receptor 48 kDa subunit

GLRA1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GLRA1	P23415	GLRB	Homo sapiens	P48167	Anti Bait CoIP	35526563
Intra	GLRA1	P23415	MAGED1	Homo sapiens	Q9Y5V3	Y2H Prey Pooling	32296183
Intra	GLRA1	P23415	MAGED1	Homo sapiens	Q9Y5V3	Validated Y2H	32296183
Intra	GLRA1	P23415	MAGED1	Homo sapiens	Q9Y5V3	Y2H Array	32296183
Intra	GLRA1	P23415	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
Intra	GLRA1	P23415	SORBS3	Homo sapiens	O60504	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Conversion Disorder

Conversion Hysteria Or Reaction	Conversion Hysterical Neurosis
Hysterical Neurosis, Conversion Type	Fnd
Functional Movement Disorder	Functional Neurological Disorder
Dissociative Disorder

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05492	GLRA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GLRA1	RGD	RGD:2704
Bos taurus	GLRA1	VGNC	VGNC:29412
Canis familiaris	GLRA1	VGNC	VGNC:41268
Macaca mulatta	GLRA1	VGNC	VGNC:73074
Mus musculus	GLRA1	MGD	MGI:95747
Felis catus	GLRA1	VGNC	VGNC:62588

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