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GLRA1 - glycine receptor alpha 1 Gene

Also Known as STHE; HKPX1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2741

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05492	GLRA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22528	Glra1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29048	Glra1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GLRA1	NCBI