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GLRA1 Gene

protein-coding   GIFtS: 67
GCID: GC05M151182

Glycine Receptor, Alpha 1

(Previous names: glycine receptor, alpha 1 (startle disease/hyperekplexia))
(Previous symbol: STHE)
  See GLRA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glycine Receptor, Alpha 11 2     Glycine Receptor, Alpha 1 (Startle Disease/Hyperekplexia)1
STHE1 2 5     Startle Disease/Hyperekplexia1
Glycine Receptor 48 KDa Subunit2 3     Stiff Person Syndrome1
Glycine Receptor Strychnine-Binding Subunit2 3     Glycine Receptor Subunit Alpha-12
HKPX12 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GLRA1 Gene:
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)

GeneCards Summary for GLRA1 Gene:
GLRA1 (glycine receptor, alpha 1) is a protein-coding gene. Diseases associated with GLRA1 include glra1-related hyperekplexia, and hyperekplexia. GO annotations related to this gene include transmitter-gated ion channel activity and glycine binding. An important paralog of this gene is GLRA2.

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 Gene:
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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_029289.12  NC_018916.2  
Regulatory elements:
   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 plasmidGLRA1 promoter sequence
   Search Chromatin IP Primers for GLRA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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 three alpha and two beta subunits. Homopentamers of alpha subunits also form
functional receptors
Miscellaneous: The alpha subunit binds strychnine
4 PDB 3D structures from and Proteopedia for GLRA1:
1MOT (3D)        1VRY (3D)        2M6B (3D)        2M6I (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

Explore proteomics data for GLRA1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn66
  • Modification sites at PhosphoSitePlus

  • See GLRA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000162.2  NP_001139512.1  

    ENSEMBL proteins: 
     ENSP00000274576   ENSP00000430595   ENSP00000411593   ENSP00000445913  
    Reactome Protein details: P23415

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLRA: Ligand-gated ion channels / Glycine receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha1
    Glycine receptors

    Selected InterPro protein domains (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 domains:
    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


    Find genes that share domains with GLRA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005515protein binding IPI11929858
    GO:0016594glycine binding IDA15748848
    GO:0016934extracellular-glycine-gated chloride channel activity IMP7920629
    GO:0022824transmitter-gated ion channel activity IEA--
         
    Find genes that share ontologies with GLRA1           About GenesLikeMe


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Glra1):
     adipose tissue  behavior/neurological  growth/size/body  hematopoietic system  immune system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  reproductive system 
     respiratory system  vision/eye 

    Find genes that share phenotypes with GLRA1           About GenesLikeMe

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GLRA1_HUMAN, P23415: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005783endoplasmic reticulum ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS2155780
    GO:0009897external side of plasma membrane IEA--

    Find genes that share ontologies with GLRA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GLRA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Ca-dependent events
    Neurophysiological process PGE2 induced pain processing0.38
    4Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    5Ligand-gated ion channel transport
    Ligand-gated ion channel transport


    Find genes that share SuperPaths with GLRA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GLRA1
        Neurophysiological process PGE2-induced pain processing

    1 Reactome Pathway for GLRA1
        Ligand-gated ion channel transport


    1 Kegg Pathway  (Kegg details for GLRA1):
        Neuroactive ligand-receptor interaction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GLRA1
    Interactions:

        Search GeneGlobe Interaction Network for GLRA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for GLRA1 (ENSP000002745764) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLRA2ENSP000002180754STRING: ENSP00000218075
    GLRA3ENSP000002740934STRING: ENSP00000274093
    GLRBENSP000002644284STRING: ENSP00000264428
    GPHNENSP000003030194STRING: ENSP00000303019
    KIF5AENSP000002864524STRING: ENSP00000286452
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508action potential IEA--
    GO:0001964startle response IMP11973623
    GO:0002087regulation of respiratory gaseous exchange by neurological system process IEA--
    GO:0006810transport ----
    GO:0006811ion transport IDA2155780

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for GLRA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) [107-95-9]
    HypotaurineNon-selective endogenous glycine receptor agonist[300-84-5]
    L-SerineWeak endogenous glycine receptor agonist[56-45-1]
    L-AlanineGlycine receptor agonist[56-41-7]
    Taurine Non-selective, endogenous glycine receptor partial agonist [107-35-7]

    4 HMDB Compounds for GLRA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Taurine1-Aminoethane-2-sulfonate (see all 14)107-35-7--

    Selected DrugBank Compounds for GLRA1 (see all 11)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    EthanolAbsolute Alcohol (see all 34)64-17-5targetagonist20713066 17139284 9452448 17016423 21044637
    DesfluraneDesflurano [INN-Spanish] (see all 2)57041-67-5targetagonist17139284 17016423 16973644
    EnfluraneAnesthetic 347 (see all 7)13838-16-9targetagonist17139284 17016423 16973644
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetallosteric modulator15287733 17139284 17016423
    Isoflurane-- 26675-46-7targetagonist17139284 17016423 16973644
    MethoxyfluraneMethoflurane (see all 11)76-38-0targetagonist10683198 17139284 17016423
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17154252 16884688
    LindaneBenzene hexachloride (see all 11)58-89-9targetantagonist20600211 12614680
    SevofluraneSevofluran (see all 3)28523-86-6targetagonist17139284 17016423
    D-Serine-- 312-84-5target--11752352

    Selected IUPHAR Ligands for GLRA1 (alpha1) (see all 21)    About this table
    LigandTypeActionAffinityPubmed IDs
    Zn2+
    Allosteric regulatorPotentiation7.4--
    anandamide
    Allosteric regulatorPotentiation7.4--
    HU-210
    Allosteric regulatorPotentiation6.6--
    ginkgolide B
    Channel blockerNone5.1 - 6.2--
    ginkgolide X
    AntagonistAntagonist6.1--
    cyanotriphenylborate
    Channel blockerNone5.9--
    pregnenolone sulphate
    AntagonistAntagonist5.7--
    nifedipine
    AntagonistAntagonist5.5--
    Delta9-tetrahydrocannabinol
    Allosteric regulatorPotentiation5.5--
    Cu2+
    Allosteric regulatorInhibition4.8 - 5.4--

    5 Novoseek inferred 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)



    Find genes that share compounds with GLRA1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
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    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 mRNA 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GLRA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GLRA1 Expression
    About this image


    GLRA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     NULL (Uncategorized)
             Neural rosettes
     
     Neurons
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
    GLRA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLRA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.121490
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GLRA1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glra11 , 5 glycine receptor, alpha 1 subunit1, 5 90.72(n)1
    98.66(a)1
      11 (33.12 cM)5
    146541  NM_020492.31  NP_065238.21 
     555142385 
    chicken
    (Gallus gallus)
    Aves GLRA11 glycine receptor, alpha 1 84.11(n)
    96.21(a)
      427637  XM_425210.3  XP_425210.3 
    lizard
    (Anolis carolinensis)
    Reptilia GLRA16
    glycine receptor, alpha 1
    86(a)
    1 ↔ 1
    GL343248.1(114481-208717)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia glra11 glycine receptor, alpha 1 78.92(n)
    89.06(a)
      100498379  XM_004912727.1  XP_004912784.1 
    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
    GluClalpha1
    44(a)
    (best of 6)3
    50.64(n)1
    41.72(a)1
      3 67A13
    423501  NM_001275811.11  NP_001262740.11 
    worm
    (Caenorhabditis elegans)
    Secernentea glc-31 , 3 ligand-gated ionic channel subunit3
    glc-31
    47(a)
    (best of 21)3
    51.86(n)1
    50.17(a)1
      V(5449241-5453240)3
    1789301  NM_072040.51  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)
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    Paralogs for GLRA1 gene
    GLRA22  GABRR12  GLRB2  GABRB12  GABRR32  GABRD2  GABRP2  GLRA42  
    GABRB32  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected 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    GABRG2    GABRA6

    Find genes that share paralogs with GLRA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLRA1 (see all 2138)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0002964
    Hyperekplexia 1 (HKPX1)4--see VAR_0002962 I N mis40--------
    VAR_0002994
    Hyperekplexia 1 (HKPX1)4--see VAR_0002992 R Q mis40--------
    VAR_0101144
    Hyperekplexia 1 (HKPX1)4--see VAR_0101142 R H mis40--------
    VAR_0003004
    Hyperekplexia 1 (HKPX1)4--see VAR_0003002 K E mis40--------
    VAR_0002984
    Hyperekplexia 1 (HKPX1)4--see VAR_0002982 R L mis40--------
    VAR_0003014
    Hyperekplexia 1 (HKPX1)4--see VAR_0003012 Y C mis40--------
    VAR_0101124
    Hyperekplexia 1 (HKPX1)4--see VAR_0101122 P T mis40--------
    VAR_0002974
    Hyperekplexia 1 (HKPX1)4--see VAR_0002972 Q H mis40--------
    VAR_0101134
    Hyperekplexia 1 (HKPX1)4--see VAR_0101132 R H mis40--------
    rs1164742601,2
    C,Fpathogenic1151475976(+) TGGGCC/TCATCC 4 S G mis13Minor allele frequency- T:0.01NA EU 5991

    HapMap Linkage Disequilibrium report for GLRA1 (151202074 - 151304403 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GLRA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677174CNV Deletion23128226
    esv272818CNV Insertion20981092
    esv28315CNV Loss19812545

    Human Gene Mutation Database (HGMD): GLRA1
    Locus Specific Mutation Databases (LSDB): GLRA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GLRA1
    DNA2.0 Custom Variant and Variant Library Synthesis for GLRA1

    (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.)
    About This Section

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    OMIM gene information: 138491   
    OMIM disorders: 149400  
    UniProtKB/Swiss-Prot: GLRA1_HUMAN, P23415
  • Hyperekplexia 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for GLRA1:    
    About MalaCards
    glra1-related hyperekplexia    hyperekplexia    stiff-person syndrome    hyperekplexia, hereditary 1, autosomal dominant or recessive
    aspiration pneumonia    molybdenum cofactor deficiency

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

    Find genes that share disorders with GLRA1           About GenesLikeMe

    2 Novoseek inferred 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
    GeneReviews: GLRA1
    Genetic Association Database (GAD): GLRA1
    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 10 sources (see all 164):
    (articles sorted by number of sources associating them with GLRA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Nat. Genet. 1993)
    2. Mutational analysis of familial and sporadic hyperekplexia. (PubMed id 7611730)1, 2, 9 Shiang R.... Wasmuth J.J. (Ann. Neurol. 1995)
    3. Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. (PubMed id 10514101)1, 2, 9 Vergouwe M.N.... Frants R.R. (Ann. Neurol. 1999)
    4. 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. (J. Neurosci. 1999)
    5. 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. (J. Med. Genet. 1996)
    6. 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. (Biochemistry 2004)
    7. 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. (Am. J. Hum. Genet. 1996)
    8. 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. (Ann. Neurol. 1992)
    9. 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. (EMBO J. 1994)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GLRA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GLRA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GLRA1 gene:
    Search GeneIP for patents involving GLRA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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