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Aliases for GABRA1 Gene

Aliases for GABRA1 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1 2 3
  • GABA(A) Receptor Subunit Alpha-1 3 4
  • ECA4 3 6
  • EJM5 3 6
  • Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 3
  • GABA(A) Receptor, Alpha 1 3
  • GABA(A) Receptor 2
  • Alpha 1 2
  • EIEE19 3
  • EJM 3

External Ids for GABRA1 Gene

Previous GeneCards Identifiers for GABRA1 Gene

  • GC05P161391
  • GC05P161782
  • GC05P161209
  • GC05P161255
  • GC05P161206
  • GC05P156366

Summaries for GABRA1 Gene

Entrez Gene Summary for GABRA1 Gene

  • This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRA1 Gene

GABRA1 (Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1) is a Protein Coding gene. Diseases associated with GABRA1 include epileptic encephalopathy, early infantile, 19 and epilepsy, juvenile myoclonic 5. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include drug binding and extracellular ligand-gated ion channel activity. An important paralog of this gene is GABRA4.

UniProtKB/Swiss-Prot for GABRA1 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Tocris Summary for GABRA1 Gene

  • GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRA1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA1 Gene

Genomics for GABRA1 Gene

Regulatory Elements for GABRA1 Gene

Transcription factor binding sites by QIAGEN in the GABRA1 gene promoter:

Genomic Location for GABRA1 Gene

Start:
161,847,191 bp from pter
End:
161,899,969 bp from pter
Size:
52,779 bases
Orientation:
Plus strand

Genomic View for GABRA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA1 Gene

Proteins for GABRA1 Gene

  • Protein details for GABRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14867-GBRA1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-1
    Protein Accession:
    P14867
    Secondary Accessions:
    • D3DQK6
    • Q8N629

    Protein attributes for GABRA1 Gene

    Size:
    456 amino acids
    Molecular mass:
    51802 Da
    Quaternary structure:
    • Interacts with TRAK1. Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Binds UBQLN1 (By similarity).

neXtProt entry for GABRA1 Gene

Proteomics data for GABRA1 Gene at MOPED

Post-translational modifications for GABRA1 Gene

  • Glycosylation at Asn38 and Asn138
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GABRA1 (GABA-A R alpha 1)

No data available for DME Specific Peptides for GABRA1 Gene

Domains for GABRA1 Gene

Gene Families for GABRA1 Gene

Suggested Antigen Peptide Sequences for GABRA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P14867

UniProtKB/Swiss-Prot:

GBRA1_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily.
genes like me logo Genes that share domains with GABRA1: view

Function for GABRA1 Gene

Molecular function for GABRA1 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 1,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot Function:
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).

Gene Ontology (GO) - Molecular Function for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding --
GO:0008144 drug binding ISS --
genes like me logo Genes that share ontologies with GABRA1: view
genes like me logo Genes that share phenotypes with GABRA1: view

Animal Models for GABRA1 Gene

MGI Knock Outs for GABRA1:

Animal Model Products

miRNA for GABRA1 Gene

miRTarBase miRNAs that target GABRA1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRA1 Gene

Localization for GABRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABRA1 Gene COMPARTMENTS Subcellular localization image for GABRA1 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA1: view

Pathways for GABRA1 Gene

genes like me logo Genes that share pathways with GABRA1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GABRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2465923
GO:0006811 ion transport --
GO:0007165 signal transduction --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with GABRA1: view

Drugs for GABRA1 Gene

(72) Drugbank Compounds for GABRA1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Alprazolam
  • 8-Chloro-1-methyl-6-phenyl-4H-S-triazolo(4,3-a)(1,4)benzodiazepine
28981-97-7 2118 Target positive allosteric modulator approved, illicit, investigational
Zaleplon
  • 3'-(3-Cyanopyrazolo(1,5-a)pyrimidin-7-yl)-N-ethylacetanilide
151319-34-5 5719 Target potentiator approved, illicit, investigational
Ethchlorvynol
  • 1-chloro-3-ethyl-1-penten-4-yn-3-ol
113-18-8 Target positive allosteric modulator approved, illicit, withdrawn
Halazepam
  • Halazepam
23092-17-3 31640 Target, Target positive allosteric modulator, potentiator approved, illicit, withdrawn
Methyprylon
  • Methprylon
125-64-4 4162 Target, Target agonist, positive allosteric modulator approved, illicit, withdrawn

(5) Tocris Compounds for GABRA1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist [40709-69-1]
(-)-Bicuculline methochloride Water-soluble GABAA antagonist [53552-05-9]
L-655,708 Selective for alpha5-containing GABAA receptors [130477-52-0]
Muscimol Potent GABAA agonist [2763-96-4]
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

(11) ApexBio Compounds for GABRA1 Gene

Compound Action Cas Number
(+)-Bicuculline GABAA receptor antagonist,competitve and classical [485-49-4]
(R)-baclofen [69308-37-8]
Baicalin [21967-41-9]
Bemegride [64-65-3]
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions [33125-97-2]
Flumazenil Benzodiazepine antagonist [78755-81-4]
Gabapentin GABA enhancer [60142-96-3]
Ginkgolide A [15291-75-5]
Nefiracetam [77191-36-7]
Niflumic acid Ca2+-activated Cl- channel blocker [4394-00-7]
Rufinamide [106308-44-5]

(62) HMDB Compounds for GABRA1 Gene

(39) IUPHAR Ligand for GABRA1 Gene

Ligand Type Action Affinity Pubmed IDs
Zn2+ Channel blocker None 6
TBPS Channel blocker None
picrotoxin Channel blocker None
gabazine Antagonist Antagonist
tetrahydrodeoxycorticosterone Allosteric regulator Potentiation
piperidine-4-sulphonic acid Agonist Full agonist
5alpha-pregnan-3alpha-ol-20-one Allosteric regulator Potentiation
muscimol Agonist Full agonist
[35S]TBPS None None
[3H]CGS8216 None None
[3H]muscimol None None
isoguvacine Agonist Full agonist
isonipecotic acid Agonist Full agonist
[11C]flumazenil None None
flumazenil Allosteric regulator Partial agonist
[3H]gabazine None None
bretazenil Allosteric regulator Full agonist
[18F]fluoroethylflumazenil None None
Ro154513 Allosteric regulator Full agonist
THIP Agonist Agonist
bicuculline Antagonist Antagonist
[3H]flunitrazepam None None
TPA023 Allosteric regulator Antagonist
alpha5IA Allosteric regulator Inverse agonist
DMCM Allosteric regulator Inverse agonist
flunitrazepam Allosteric regulator Full agonist
Ro4938581 Allosteric regulator Inverse agonist
Ro194603 Allosteric regulator Inverse agonist
alpha3IA Allosteric regulator Inverse agonist
L838417 Allosteric regulator Partial agonist
ocinaplon Allosteric regulator Partial agonist
diazepam Allosteric regulator Full agonist
MRK016 Allosteric regulator Inverse agonist
ZK93426 Allosteric regulator Antagonist
TP003 Allosteric regulator Antagonist
zolpidem Allosteric regulator Full agonist
indiplon Allosteric regulator Full agonist
zaleplon Allosteric regulator Full agonist
[3H]zolpidem None None

(1) Novoseek inferred chemical compound relationships for GABRA1 Gene

Compound -log(P) Hits PubMed IDs
gaba 63.4 9

(3) PharmGKB related drug/compound annotations for GABRA1 Gene

Drug/compound Annotation
carbamazepine Clinical Annotation
phenytoin Clinical Annotation
valproic acid Clinical Annotation
genes like me logo Genes that share compounds with GABRA1: view

Transcripts for GABRA1 Gene

Unigene Clusters for GABRA1 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA1 Gene

No ASD Table

Relevant External Links for GABRA1 Gene

GeneLoc Exon Structure for
GABRA1
ECgene alternative splicing isoforms for
GABRA1

Expression for GABRA1 Gene

mRNA expression in normal human tissues for GABRA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (10.6), Brain - Anterior cingulate cortex (BA24) (8.3), Brain - Cerebellar Hemisphere (7.6), Brain - Cortex (6.6), and Brain - Cerebellum (5.5).

Protein differential expression in normal tissues for GABRA1 Gene

This gene is overexpressed in Frontal cortex (50.7), Retina (11.2), and Fetal Brain (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRA1 Gene

SOURCE GeneReport for Unigene cluster for GABRA1 Gene Hs.175934

genes like me logo Genes that share expressions with GABRA1: view

Expression partners for GABRA1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GABRA1 Gene

Orthologs for GABRA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRA1 35
  • 93.64 (n)
  • 99.12 (a)
GABRA1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC489143 35
  • 94.15 (n)
  • 98.9 (a)
GABRA1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra1 35
  • 91.65 (n)
  • 98.68 (a)
Gabra1 16
Gabra1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA1 35
  • 99.42 (n)
  • 100 (a)
GABRA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra1 35
  • 90.7 (n)
  • 98.68 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRA1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves GABRA1 35
  • 84.18 (n)
  • 96.04 (a)
GABRA1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra1 35
  • 75.35 (n)
  • 84.11 (a)
zebrafish
(Danio rerio)
Actinopterygii gabra1 35
  • 77.65 (n)
  • 88.56 (a)
gabra1 36
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2338 35
fruit fly
(Drosophila melanogaster)
Insecta CG8916 37
  • 43 (a)
Grd 37
  • 48 (a)
Species with no ortholog for GABRA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GABRA1 Gene

ENSEMBL:
Gene Tree for GABRA1 (if available)
TreeFam:
Gene Tree for GABRA1 (if available)

Paralogs for GABRA1 Gene

Paralogs for GABRA1 Gene

genes like me logo Genes that share paralogs with GABRA1: view

Variants for GABRA1 Gene

Sequence variations from dbSNP and Humsavar for GABRA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs980790 -- 161,891,117(+) GTGAC(A/G)CTGCA intron-variant
rs980791 -- 161,891,430(+) GCAGA(A/G)CTACT intron-variant
rs1129647 Benign 161,854,239(+) GATGG(C/T)TATGA synonymous-codon, reference
rs1157122 -- 161,892,308(+) AGGAT(C/T)ATTCA intron-variant
rs1379547 -- 161,891,623(+) GTATT(G/T)TTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRA1 Gene

Variant ID Type Subtype PubMed ID
nsv883074 CNV Loss 21882294
esv34078 CNV Loss 18971310
esv2533707 CNV Deletion 19546169

Relevant External Links for GABRA1 Gene

HapMap Linkage Disequilibrium report
GABRA1
Human Gene Mutation Database (HGMD)
GABRA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA1 Gene

Disorders for GABRA1 Gene

(1) OMIM Diseases for GABRA1 Gene (137160)

UniProtKB/Swiss-Prot

GBRA1_HUMAN
  • Epilepsy, childhood absence 4 (ECA4) [MIM:611136]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:16718694}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. {ECO:0000269 PubMed:21714819}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269 PubMed:11992121}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]: A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability. {ECO:0000269 PubMed:24623842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for GABRA1 Gene

Disease -log(P) Hits PubMed IDs
myoclonic epilepsy juvenile 88.7 5
childhood absence epilepsy 84.9 3
epilepsy 54.2 3
mood disorders 40.1 5
bipolar disorder 29 2

Relevant External Links for GABRA1

Genetic Association Database (GAD)
GABRA1
Human Genome Epidemiology (HuGE) Navigator
GABRA1
genes like me logo Genes that share disorders with GABRA1: view

No data available for Genatlas for GABRA1 Gene

Publications for GABRA1 Gene

  1. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. (PMID: 14631097) Kapoor A. … Anand A. (J. Genet. 2003) 3 23 48
  2. Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. (PMID: 14706423) Horiuchi Y. … Arinami T. (Biol. Psychiatry 2004) 3 23 48
  3. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PMID: 16172613) Petryshen T.L. … Sklar P. (Mol. Psychiatry 2005) 3 23 48
  4. Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities. (PMID: 16569738) Brito V.N. … Latronico A.C. (J. Clin. Endocrinol. Metab. 2006) 3 23 48
  5. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. (PMID: 17440936) Loh E.W. … Stadlin A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 23 48

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Sources for GABRA1 Gene

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