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Aliases & Descriptions for GLRA1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| MGC138878 2 | | MGC138879 2 | | OTTHUMP00000160616 2 | | STHE 2, 5 |
| | | Descriptions |
|---|
| Glycine receptor 48 kDa subunit 3 | | Glycine receptor strychnine-binding subunit 3 | | glycine receptor, alpha 1 2 | | glycine receptor, alpha 1 (startle disease/hyperekplexia) 1 |
|
| | Search outside databases for aliases for GLRA1 genePrevious GC identifers: GC05M151270 GC05M151799 GC05M151230 |
Summaries for GLRA1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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. UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415Function: 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)Gene Wiki entry for GLRA1 (Glycine_receptor%2C_alpha_1) |
Genomic Location for GLRA1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GLRA1 gene 
Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q33.1 HGNC cytogenetic band: 5q31-q33GLRA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M151182:
(about GC identifiers)
Start:
|
151,182,361 bp from pter |
End:
|
151,284,596 bp from pter |
Size:
|
102,236 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000005.8 NT_029289.10
| Proteins for GLRA1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structure from and Proteopedia :1MOT (3D)
 1VRY (3D)
 
Secondary accessions: Q14C77 Q6DJV9Alternative splicing: 2 isoforms: P23415-1 P23415-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_000162.2 NP_001139512.1
ENSEMBL proteins: ENSP00000274576
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9
): About this table
Antibodies for GLRA1: Assays for GLRA1: | Protein
Domains/ Families for GLRA1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P23415Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for GLRA1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000171
Applied Biosystems Silencer® siRNAs for GLRA1
Sigma-Aldrich siRNA and siRNA Panels for GLRA1  Sigma-Aldrich shRNA Panels and shRNA for GLRA1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000171                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000171                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000171 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000171
UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415Function: 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,inhibitory13 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Glra1):
5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
): About this table | Pathways & Interactions for GLRA1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/7 Interacting proteins for GLRA1 (ENSP000002745763) via UniProtKB, MINT, and/or STRING (see all 7
)About this table
5/18 Gene Ontology (GO) biological process terms (links to tree view) (see all 18
): About this table
|
Drugs & Compounds for GLRA1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  | Sigma-Aldrich Small Molecules for GLRA1: Ligand |
Compounds for GLRA1 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Strychnine hydrochloride | Competitive glycine receptor antagonist | [1421-86-9] | | Hypotaurine | Non-selective endogenous glycine receptor agonist | [300-84-5] | | L-Serine | Weak endogenous glycine receptor agonist | [56-45-1] | | Glycine | Endogenous potentiator, co-transmitter | [56-40-6] | | beta-Alanine | Endogenous glycine agonist, more selective than Taurine (Cat. No. 0209) | [107-95-9] | About this table
1 Novoseek chemical compound relationship for GLRA1 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| picrotoxin |
37.87 |
1 |
11744711 (1) |
About this table
|
Transcripts for GLRA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000171
Sigma-Aldrich siRNA and siRNA Panels for GLRA1  Sigma-Aldrich shRNA Panels and shRNA for GLRA1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000171 REFSEQ mRNAs for GLRA1 gene (2 alternative transcripts): NM_000171.3 NM_001146040.1 NM_000171               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000171                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000171                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000171  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 NM_000171 X52009
highest scoring ESTs for GLRA1:X52009 NM_000171 BC074980 AA355139 BE926355 BP418791 CV309719 H54901 AK226046 BC114947 Unigene Cluster for GLRA1: Glycine receptor, alpha 1 Hs.121490 [show with all ESTs]Unigene Representative Sequence: NM_000171
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for GLRA1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for GLRA1
1 Ensembl transcript including schematic representation: ENST00000274576
|
Expression for GLRA1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GLRA1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GLRA1
1 / 2 / 3 3 probe-sets matching GLRA1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.121490
Expression variation in blood from EXPOLDB for GLRA1 |
Orthologs for GLRA1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GLRA1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for GLRA1
ENSEMBL Gene Tree for GLRA1 | Paralogs for GLRA1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GLRA1 gene
- GLRA22 GLRA42 GLRA32
|
SNPs/Variants for GLRA1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for GLRA1 (up to first 250kb)
|
Disorders & Mutations for GLRA1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 138491 UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415
Defects in GLRA1 are a cause of startle disease (STHE) [MIM:149400]; also known as hereditary hyperekplexia or congenital stiff-person syndrome. STHE is a genetically heterogeneous 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. Inheritance can be autosomal dominant or recessive2 Novoseek disease relationships for GLRA1 gene
About this table
GeneTests: GLRA1 Hyperekplexia Human Gene Mutation Database: GLRA1 Human Genome Epidemiology Navigator: GLRA1 (2 documents)
|
Medical News for GLRA1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GLRA1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/120 PubMed articles for GLRA1 gene (see all 120
):- Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. (PubMed id 8298642)1, 2, 3, 4 Shiang R....Wasmuth J.J. (1993)
- Mutational analysis of familial and sporadic hyperekplexia. (PubMed id 7611730)1, 3, 4 Shiang R.... Wasmuth J.J. (1995)
- Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (PubMed id 10514101)1, 3, 4 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, 3, 4 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, 3, 4 Elmslie F.V.... Rees M. (1996)
- A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. (PubMed id 8571969)1, 3, 4 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, 2, 3 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, 3, 4 Langosch D....Betz H. (1994)
- Structure and dynamics of the second and third transmembrane domains of human glycine receptor. (PubMed id 15952785)3, 4 Ma D.... Xu Y. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
|
Search for GLRA1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GLRA1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GLRA1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GLRA1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=GLRA1 |
|
| | | About This Section
| --
| Services for GLRA1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for GLRA1:

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| | | | Tocris compounds for GLRA1 |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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