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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GLRA1 Gene

protein-coding GIFtS: 65
GCID: GC05M151182

glycine receptor, alpha 1

(Previous names: glycine receptor, alpha 1 (startle disease/hyperekplexia)...)
(Previous symbol: STHE)

Explore 21 diseases affiliated with
GLRA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Glycine Receptor, Alpha 1¹ ²		Glycine Receptor, Alpha 1 (Startle Disease/Hyperekplexia)¹
STHE¹ ² ⁵		HKPX1²
Glycine Receptor 48 KDa Subunit² ³		Glycine Receptor Subunit Alpha-1²
Glycine Receptor Strychnine-Binding Subunit² ³

External Ids:	HGNC: 4326¹	Entrez Gene: 2741²	Ensembl: ENSG00000145888⁷	OMIM: 138491⁵	UniProtKB: P23415³

Export aliases for GLRA1 gene to outside databases

Previous GC identifers: GC05M151270 GC05M151799 GC05M151230 GC05M146347

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GLRA1:

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. Two transcript variants encoding different

isoforms have been found for this gene.(provided by RefSeq, Mar 2009)

UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415

Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases

the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

summary for GLRA1:

Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for

mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly

within the hippocampus, spinal cord and brain stem. Glycine receptors exist as pentameric proteins,

homo-oligomers of the alpha isoforms (alpha1, alpha2, alpha3 or alpha4) or hetero-oligomers which also

contain the beta-subtype variant (beta1) which is essential for targeting the receptor to the synapse.

Glycine receptors contain an integral chloride channel, and have modulatory sites for anesthetics,

neurosteroids, cannabinoids and ethanol. Disruption in glycine receptor expression or ion channel function

can result in hyperekplexia, a rare neurological disorder.

Gene Wiki entry for GLRA1 (Glycine receptor, alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GLRA1 gene promoter:
NF-1 AP-4 Tal-1beta E47 RORalpha1 COMP1 Sox9 FOXO1a ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GLRA1 promoter sequence

Search SABiosciences Chromatin IP Primers for GLRA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GLRA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q33.1 HGNC cytogenetic band: 5q33.1

GLRA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLRA1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M151182: view genomic region (about GC identifiers)

Start:	151,202,074 bp from pter	End:	151,304,403 bp from pter
Size:	102,330 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415 (See protein sequence)

Recommended Name: Glycine receptor subunit alpha-1 precursor

Size: 457 amino acids; 52624 Da

Subunit: Pentamer composed of alpha and beta subunits

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein

Miscellaneous: The alpha subunit binds strychnine

2 PDB 3D structures from and Proteopedia for GLRA1:

1MOT (3D)

1VRY (3D)

Secondary accessions: B2R6T3 Q14C77 Q6DJV9

Alternative splicing: 2 isoforms: P23415-1 P23415-2

Explore the universe of human proteins at neXtProt for GLRA1: NX_P23415

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23415

GLRA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000162.2 NP_001139512.1

ENSEMBL proteins:

ENSP00000274576 ENSP00000430595 ENSP00000411593 ENSP00000445913

Reactome Protein details: P23415
Human Recombinant Protein Products for GLRA1:

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Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005624	membrane fraction	--	--
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	NAS	2155780

GLRA1 for ontologies About GeneDecksing

GLRA1 Antibody Products:

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GLRA1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR008128 Glycine_rcpt_A1

IPR008127 Glycine_rcpt_A

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR006201 Neur_channel

Graphical View of Domain Structure for InterPro Entry P23415

ProtoNet protein and cluster: P23415

3 Blocks protein families:

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

IPB008128 Glycine receptor alpha 1 subunit signature

UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1

sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GLRA1_HUMAN, P23415

Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases

the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

Genatlas biochemistry entry for GLRA1:

glycine receptor,alpha 1 subunit,inhibitory

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005230	extracellular ligand-gated ion channel activity	--	--
GO:0005515	protein binding	IPI	11929858
GO:0016594	glycine binding	IDA	8717357
GO:0016934	extracellular-glycine-gated chloride channel activity	IMP	7920629

GLRA1 for ontologies About GeneDecksing

Phenotypes:
11 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Glra1):

adipose tissue	behavior/neurological	growth/size	hematopoietic system	immune system
mortality/aging	muscle	nervous system	reproductive system	respiratory system
vision/eye

GLRA1 for phenotypes About GeneDecksing

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLRA1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

PKA activation in glucagon signalling

Neurophysiological process_PGE2-induced pain processing

0.44

Neurophysiological process PGE2-induced pain processing

0.44

Ion channel transport

Ion channel transport

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

GABA A receptor activation

Ligand-gated ion channel transport

0.48

Class A/1 (Rhodopsin-like receptors)

Neuroactive ligand-receptor interaction

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GLRA1

Neurophysiological process PGE2-induced pain processing

1 GeneGo (Thomson Reuters) Pathway for GLRA1

Neurophysiological process PGE2-induced pain processing

3 Reactome Pathways for GLRA1

	Ligand-gated ion channel transport
	Transmembrane transport of small molecules
	Ion channel transport

1 Kegg Pathway (Kegg details for GLRA1):

Neuroactive ligand-receptor interaction

GLRA1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GLRA1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for GLRA1 (ENSP00000274576⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GLRA2	ENSP00000218075⁴	STRING: ENSP00000218075
GLRA3	ENSP00000274093⁴	STRING: ENSP00000274093
GLRB	ENSP00000264428⁴	STRING: ENSP00000264428
GPHN	ENSP00000303019⁴	STRING: ENSP00000303019

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001508	regulation of action potential	IEA	--
GO:0001964	startle response	IMP	8298642
GO:0002087	regulation of respiratory gaseous exchange by neurological system process	IEA	--
GO:0006811	ion transport	IDA	2155780
GO:0006821	chloride transport	IDA	8137830

GLRA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GLRA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GLRA1 available from Tocris Bioscience About this table

Compound	Action	CAS #
beta-Alanine	Endogenous glycine agonist, more selective than taurine (Cat. No. 0209)	[107-95-9]
Strychnine hydrochloride	Competitive glycine receptor antagonist	[1421-86-9]
L-Serine	Weak endogenous glycine receptor agonist	[56-45-1]
Hypotaurine	Non-selective endogenous glycine receptor agonist	[300-84-5]
Glycine	Endogenous potentiator, co-transmitter	[56-40-6]

4 HMDB Compounds for GLRA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Ethanol	1-Hydroxyethane (see all 57)	64-17-5	--
Glycine	2-Aminoacetate (see all 15)	56-40-6	--
Taurine	1-Aminoethane-2-sulfonate (see all 14)	107-35-7	--

10/11 DrugBank Compounds for GLRA1 (see all 11) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ethanol	Absolute Alcohol (see all 34)	64-17-5	target	agonist	20713066 17139284 9452448 17016423 21044637
Desflurane	Desflurano [INN-Spanish] (see all 2)	57041-67-5	target	agonist	17139284 17016423 16973644
Enflurane	Anesthetic 347 (see all 7)	13838-16-9	target	agonist	17139284 17016423 16973644
Halothane	2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)	151-67-7	target	allosteric modulator	15287733 17139284 17016423
Isoflurane	--	26675-46-7	target	agonist	17139284 17016423 16973644
Methoxyflurane	Methoflurane (see all 11)	76-38-0	target	agonist	10683198 17139284 17016423
Glycine	2-Aminoacetic acid (see all 4)	56-40-6	target	--	17154252 16884688
Lindane	Benzene hexachloride (see all 11)	58-89-9	target	antagonist	20600211 12614680
Sevoflurane	Sevofluran (see all 3)	28523-86-6	target	agonist	17139284 17016423
D-Serine	--	312-84-5	target	--	11752352

5 Novoseek chemical compound relationships for GLRA1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
clonazepam	71.6	2	1355335 (1), 16429380 (1)
strychnine	68.2	1	9144769 (1)
picrotoxin	36.8	1	11744711 (1)
glutamate	7.99	1	20525074 (1)
arginine	7.81	1	11973623 (1)

Search CenterWatch for drugs/clinical trials and news about GLRA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GLRA1 gene (2 alternative transcripts):

NM_000171.3 NM_001146040.1

Unigene Cluster for GLRA1:

Glycine receptor, alpha 1

Hs.121490 [show with all ESTs]

Unigene Representative Sequence: NM_001146040

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000274576(uc003lur.3 uc003lut.3 uc003lus.3) ENST00000462581

ENST00000455880 ENST00000471351 ENST00000545569

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Additional cDNA sequence:

AK308539.1 AK312702.1 BC074980.2 BC114947.1 X52009.1

2 DOTS entries:

DT.92014914 DT.120823005

3 AceView cDNA sequences:

BC074980 X52009 NM_000171

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for GLRA1 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9
SP1:
SP2:			-

ECgene alternative splicing isoforms for GLRA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GLRA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

GLRA1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GLRA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GLRA1

SOURCE GeneReport for Unigene cluster: Hs.121490

SABiosciences Custom PCR Arrays for GLRA1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for GLRA1 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GLRA1¹	glycine receptor, alpha 1	84.26(n) 96.66(a)		427637 XM_425210.2 XP_425210.2
lizard (Anolis carolinensis)	Reptilia	GLRA1⁶	--	85(a)	1 ↔ 1	GL343248.1(114481-177004)
zebrafish (Danio rerio)	Actinopterygii	glra1²	glycine receptor, alpha 1	79.54(n)		30676 AF488379.1
fruit fly (Drosophila melanogaster)	Insecta	Rdl³ GluClalpha¹	response to cyclodiene GABA-A receptor³ CG7535-PA¹	44(a) (best of 6)³ 51.88(n)¹ 43.22(a)¹		3 67A1³ 42350¹ NM_001014641.2¹ NP_001014641.1¹
worm (Caenorhabditis elegans)	Secernentea	glc-3^{1 , 3}	ligand-gated ionic channel subunit³ Protein GLC-3¹	47(a) (best of 21)³ 48.99(n)¹ 43.72(a)¹		V(5449241-5453240)³ 178930¹ NM_072040.4¹ NP_504441.1¹

ENSEMBL Gene Tree for GLRA1 (if available)
TreeFam Gene Tree for GLRA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GLRA1 gene

GLRA2² GABRR1² GLRB² GABRB1² GABRD² GLRA4² GABRP² GABRB2²

GABRQ² GABRB3² GLRA3² GABRR2²

18/24 SIMAP similar genes for GLRA1 using alignment to 3 protein entries: GLRA1_HUMAN (see all proteins) (see all similar genes):

GLRA2 GLRA3 GLRA4 GABRP GABRA4 GABRQ

GABRR3 GABRR2 GABRA2 GABRR1 GABRA5 GABRE

GABRA1 GABRD GABRG3 GLRB GABRA6 GABRB2

GLRA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918414^1,2	C	pathogenic	154183699(-)	`TCCCCA/GTGGAT`	4	M V	mis¹		0	--	--	--	--
rs121918415^1,2	C	pathogenic	154184989(-)	`CACTAA/CAACAC`	4	* Y	stg¹		0	--	--	--	--
rs121918417^1,2	C	pathogenic	154188511(-)	`CCCAGC/GCTGCT`	4	S R	mis¹		0	--	--	--	--
rs121918409^1,2	C	pathogenic	154188549(-)	`CTGGAA/TCAACA`	4	N I	mis¹		0	--	--	--	--
rs121918413^1,2	C	pathogenic	154188566(-)	`CTGCAA/CCTGCT`	4	T P	mis¹		0	--	--	--	--
rs121918416^1,2	C	pathogenic	154188596(-)	`CCACTA/GTGCTC`	4	M V	mis¹		0	--	--	--	--
rs121918411^1,2	C	pathogenic	154188616(-)	`ACCCAC/G/TAGCTC`	6	H Q	mis¹		0	--	--	--	--
rs121918408^1,2	C	pathogenic	154188630(-)	`CTCTCA/G/TAGCAT`	6	Q R L	mis¹		0	--	--	--	--
rs121918412^1,2	C	pathogenic	154188644(-)	`TGCCCA/GAGGTA`	4	K E	mis¹		0	--	--	--	--
rs121918410^1,2	C	pathogenic	154210458(-)	`GTCCTA/C/GTGTGA`	6	Y S C	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GLRA1 (151202074 - 151304403 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for GLRA1
6 CNVs: 81081 81082 64338 93292 93293 81080
Human Gene Mutation Database (HGMD): GLRA1

Locus Specific Mutation Databases (LSDB): GLRA1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GLRA1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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GLRA1 for disorders           About GeneDecksing

OMIM gene information: 138491
OMIM disorders: 149400
UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415

Defects in GLRA1 are the cause of hyperekplexia, hereditary, type 1 (HKPX1) [MIM:149400]. A neurologic

disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and

by an exaggerated startle response to unexpected acoustic or tactile stimuli

20/21 diseases for GLRA1 (see all 21): About MalaCards

startle disease/hyperekplexia startle disease hyperekplexia stiff-person syndrome

startle disease/hyperekplexia, autosomal dominant startle disease, autosomal recessive molybdenum cofactor deficiency hyperekplexia and spastic paraparesis

spastic paraparesis amyotrophic lateral sclerosis aspiration pneumonia lateral sclerosis

hearing loss spasticity pneumonia alzheimer's disease

pharyngitis lung cancer cerebritis neuronitis

1 disease from the University of Copenhagen DISEASES database for GLRA1:

Aspiration pneumonia

2 Novoseek disease relationships for GLRA1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperekplexia	98.6	67	8651283 (3), 10514101 (3), 7611730 (3), 14580232 (3) (see all 37)
neurological disorders	61.9	5	7620586 (1), 12359314 (1), 11781706 (1), 7925268 (1) (see all 5)

GeneTests: GLRA1

Hyperekplexia

Human Genome Epidemiology (HuGE) Navigator: GLRA1 (5 documents)

Export disorders for GLRA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GLRA1 gene, integrated from 9 sources (see all 158):
(articles sorted by number of sources associating them with GLRA1)

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Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. (PubMed id 8298642)^{1, 2, 3, 9} Shiang R....Wasmuth J.J. (1993)
Mutational analysis of familial and sporadic hyperekplexia. (PubMed id 7611730)^{1, 2, 9} Shiang R.... Wasmuth J.J. (1995)
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (PubMed id 10514101)^{1, 2, 9} Vergouwe M.N.... Frants R.R. (1999)
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. (PubMed id 9920650)^{1, 2, 9} Saul B....Becker C.-M. (1999)
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. (PubMed id 8733061)^{1, 2, 9} Elmslie F.V.... Rees M. (1996)
Alanine-scanning mutagenesis in the signature disulfide loop of the glycine receptor alpha 1 subunit: critical residues for activation and modulation. (PubMed id 15287733)^{1, 7, 9} Schofield C.M....Harrison N.L. (2004)
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (PubMed id 8571969)^{1, 2, 9} Milani N.... Larizza L. (1996)
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. (PubMed id 1355335)^{1, 3, 9} Ryan S.G....Mackey R.W. (1992)
Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. (PubMed id 7925268)^{1, 2, 9} Langosch D....Betz H. (1994)
Structure and dynamics of the second and third transmembrane domains of human glycine receptor. (PubMed id 15952785)^{1, 2} Ma D.... Xu Y. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2741	HGNC: 4326	AceView: GLRA1	Ensembl:ENSG00000145888	euGenes: HUgn2741
ECgene: GLRA1	Kegg: 2741	H-InvDB: GLRA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GLRA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLRA1

Intellectual Property for GLRA1 gene
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Patent Information for GLRA1 gene:
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GeneCards and IP:
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glycine receptor, alpha 1

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glycine receptor, alpha 1

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