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UniProtKB - P14867 (GBRA1_HUMAN)

Protein

Gamma-aminobutyric acid receptor subunit alpha-1

Gene

GABRA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • chloride channel activity Source: GO_Central
  • drug binding Source: BHF-UCL
  • GABA-A receptor activity Source: ProtInc
  • GABA-gated chloride ion channel activity Source: GO_Central
  • inhibitory extracellular ligand-gated ion channel activity Source: GO_Central
  • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-977441 GABA A receptor activation
R-HSA-977443 GABA receptor activation

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-1
Alternative name(s):
GABA(A) receptor subunit alpha-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GABRA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000022355.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:4075 GABRA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		137160 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P14867

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini28 – 251ExtracellularCuratedAdd BLAST224
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei252 – 273HelicalCuratedAdd BLAST22
Transmembranei279 – 300HelicalCuratedAdd BLAST22
Transmembranei313 – 334HelicalCuratedAdd BLAST22
Topological domaini335 – 421CytoplasmicCuratedAdd BLAST87
Transmembranei422 – 443HelicalCuratedAdd BLAST22

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, childhood absence 4 (ECA4)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611136
Epilepsy, idiopathic generalized 13 (EIG13)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611136
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071810219D → N in EIG13; the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane; causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization. 1 PublicationCorresponds to variant dbSNP:rs587777364EnsemblClinVar.1
Juvenile myoclonic epilepsy 5 (EJM5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:611136
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013642322A → D in EJM5. 1 PublicationCorresponds to variant dbSNP:rs121434579EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 19 (EIEE19)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615744
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071809112R → Q in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777308EnsemblClinVar.1
Natural variantiVAR_078222146L → M in EIEE19. 1 Publication1
Natural variantiVAR_071811251G → S in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307EnsemblClinVar.1
Natural variantiVAR_071812306K → T in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		2554

MalaCards human disease database

More...MalaCardsi		GABRA1
MIMi611136 phenotype
615744 phenotype

Open Targets

More...OpenTargetsi		ENSG00000022355

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		64280 Childhood absence epilepsy
33069 Dravet syndrome
307 Juvenile myoclonic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28489

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1962

Drug and drug target database

More...DrugBanki		DB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
DB00404 Alprazolam
DB01351 Amobarbital
DB00543 Amoxapine
DB01352 Aprobarbital
DB01483 Barbital
DB01496 Barbituric acid derivative
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB01353 Butethal
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB01341 Dihydroquinidine barbiturate
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB05087 Ganaxolone
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB01354 Heptabarbital
DB01355 Hexobarbital
DB00753 Isoflurane
DB01587 Ketazolam
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB00474 Methohexital
DB01028 Methoxyflurane
DB00849 Methylphenobarbital
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01174 Phenobarbital
DB00466 Picrotoxin
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00837 Progabide
DB00818 Propofol
DB01589 Quazepam
DB01346 Quinidine barbiturate
DB00418 Secobarbital
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB01154 Thiamylal
DB11582 Thiocolchicoside
DB00599 Thiopental
DB00273 Topiramate
DB00897 Triazolam
DB00962 Zaleplon
DB00425 Zolpidem
DB01198 Zopiclone

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		404

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GABRA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		27808653

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000042828 – 456Gamma-aminobutyric acid receptor subunit alpha-1Add BLAST429

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi166 ↔ 180By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...MaxQBi		P14867

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P14867

PeptideAtlas

More...PeptideAtlasi		P14867

PRoteomics IDEntifications database

More...PRIDEi		P14867

ProteomicsDB human proteome resource

More...ProteomicsDBi		53091

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P14867

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P14867

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000022355 Expressed in 84 organ(s), highest expression level in dorsolateral prefrontal cortex

CleanEx database of gene expression profiles

More...CleanExi		HS_GABRA1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P14867 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P14867 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB022502
HPA055746

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with UBQLN1. Interacts with TRAK1. Interacts with KIF21B. Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Interacts with LHFPL4 (PubMed:28978485, PubMed:29742426). Interacts with NLGN2 (By similarity).By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108828, 8 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2159 GABA-A receptor, alpha-1/beta-2/gamma-2
CPX-2167 GABA-A receptor, alpha-1/beta-3/gamma-2

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P14867

Protein interaction database and analysis system

More...IntActi		P14867, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000023897

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P14867

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1456
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P14867

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P14867

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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. [View classification]Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3642 Eukaryota
ENOG410XNQG LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159136

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231337

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051707

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P14867

KEGG Orthology (KO)

More...KOi		K05175

Database of Orthologous Groups

More...OrthoDBi		EOG091G0805

Database for complete collections of gene phylogenies

More...PhylomeDBi		P14867

TreeFam database of animal gene trees

More...TreeFami		TF315453

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR001390 GABAAa_rcpt
IPR005431 GABBAa1_rcpt
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS

The PANTHER Classification System

More...PANTHERi		PTHR18945 PTHR18945, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01079 GABAARALPHA
PR01614 GABAARALPHA1
PR00253 GABAARECEPTR
PR00252 NRIONCHANNEL

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00860 LIC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

P14867-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL 
        60         70         80         90        100
DGYDNRLRPG LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE 
       110        120        130        140        150
RLKFKGPMTV LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRITE 
       160        170        180        190        200
DGTLLYTMRL TVRAECPMHL EDFPMDAHAC PLKFGSYAYT RAEVVYEWTR 
       210        220        230        240        250
EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM TTHFHLKRKI 
       260        270        280        290        300
GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
       310        320        330        340        350
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV 
       360        370        380        390        400
PEKPKKVKDP LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV 
       410        420        430        440        450
KPETKPPEPK KTFNSVSKID RLSRIAFPLL FGIFNLVYWA TYLNREPQLK 

APTPHQ
Length:456
Mass (Da):51,802
Last modified:January 17, 2003 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF81EC9ECBE64E94D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GV38A0A1B0GV38_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
471Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RRB2A0A0U1RRB2_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
285Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RK60E5RK60_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHL6E5RHL6_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVW9A0A1B0GVW9_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
94Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJS3E5RJS3_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0U1RQJ3A0A0U1RQJ3_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU82A0A1B0GU82_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA1
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti122W → R in CAA32874 (PubMed:2465923).Curated1
Sequence conflicti128 – 140Missing in CAA31925 (PubMed:2847710).CuratedAdd BLAST13
Sequence conflicti204R → H in CAA31925 (PubMed:2847710).Curated1
Sequence conflicti315W → WDW in CAA31925 (PubMed:2847710).Curated1
Sequence conflicti362 – 365IKKN → FPNS in CAA31925 (PubMed:2847710).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071809112R → Q in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777308EnsemblClinVar.1
Natural variantiVAR_078222146L → M in EIEE19. 1 Publication1
Natural variantiVAR_071810219D → N in EIG13; the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane; causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization. 1 PublicationCorresponds to variant dbSNP:rs587777364EnsemblClinVar.1
Natural variantiVAR_071811251G → S in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307EnsemblClinVar.1
Natural variantiVAR_071812306K → T in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309EnsemblClinVar.1
Natural variantiVAR_013642322A → D in EJM5. 1 PublicationCorresponds to variant dbSNP:rs121434579EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X14766 mRNA Translation: CAA32874.1
CH471062 Genomic DNA Translation: EAW61538.1
CH471062 Genomic DNA Translation: EAW61539.1
BC030696 mRNA Translation: AAH30696.1
X13584 mRNA Translation: CAA31925.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4357.1

Protein sequence database of the Protein Information Resource

More...PIRi		A31588
A60652

NCBI Reference Sequences

More...RefSeqi		NP_000797.2, NM_000806.5
NP_001121115.1, NM_001127643.1
NP_001121116.1, NM_001127644.1
NP_001121117.1, NM_001127645.1
NP_001121120.1, NM_001127648.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.175934

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000023897; ENSP00000023897; ENSG00000022355
ENST00000393943; ENSP00000377517; ENSG00000022355
ENST00000428797; ENSP00000393097; ENSG00000022355
ENST00000437025; ENSP00000415441; ENSG00000022355
ENST00000635880; ENSP00000489738; ENSG00000022355
ENST00000636573; ENSP00000490320; ENSG00000022355
ENST00000637827; ENSP00000490804; ENSG00000022355
ENST00000638112; ENSP00000489839; ENSG00000022355

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2554

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2554

UCSC genome browser

More...UCSCi		uc003lyx.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14766 mRNA Translation: CAA32874.1
CH471062 Genomic DNA Translation: EAW61538.1
CH471062 Genomic DNA Translation: EAW61539.1
BC030696 mRNA Translation: AAH30696.1
X13584 mRNA Translation: CAA31925.1
CCDSiCCDS4357.1
PIRiA31588
A60652
RefSeqiNP_000797.2, NM_000806.5
NP_001121115.1, NM_001127643.1
NP_001121116.1, NM_001127644.1
NP_001121117.1, NM_001127645.1
NP_001121120.1, NM_001127648.1
UniGeneiHs.175934

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CDUX-ray3.45A/B/C/D/E/F/G/H/I/J249-340[»]
A/B/C/D/E/F/G/H/I/J415-444[»]
6D1SX-ray3.20A/B/C/D/E/F/G/H/I/J249-340[»]
A/B/C/D/E/F/G/H/I/J415-444[»]
6D6Telectron microscopy3.80B/D28-339[»]
B/D418-456[»]
6D6Uelectron microscopy3.80B/D28-339[»]
B/D418-456[»]
ProteinModelPortaliP14867
SMRiP14867
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108828, 8 interactors
ComplexPortaliCPX-2159 GABA-A receptor, alpha-1/beta-2/gamma-2
CPX-2167 GABA-A receptor, alpha-1/beta-3/gamma-2
CORUMiP14867
IntActiP14867, 1 interactor
STRINGi9606.ENSP00000023897

Chemistry databases

BindingDBiP14867
ChEMBLiCHEMBL1962
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
DB00404 Alprazolam
DB01351 Amobarbital
DB00543 Amoxapine
DB01352 Aprobarbital
DB01483 Barbital
DB01496 Barbituric acid derivative
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB01353 Butethal
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB01341 Dihydroquinidine barbiturate
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB05087 Ganaxolone
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB01354 Heptabarbital
DB01355 Hexobarbital
DB00753 Isoflurane
DB01587 Ketazolam
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB00474 Methohexital
DB01028 Methoxyflurane
DB00849 Methylphenobarbital
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01174 Phenobarbital
DB00466 Picrotoxin
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00837 Progabide
DB00818 Propofol
DB01589 Quazepam
DB01346 Quinidine barbiturate
DB00418 Secobarbital
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB01154 Thiamylal
DB11582 Thiocolchicoside
DB00599 Thiopental
DB00273 Topiramate
DB00897 Triazolam
DB00962 Zaleplon
DB00425 Zolpidem
DB01198 Zopiclone
GuidetoPHARMACOLOGYi404

Protein family/group databases

TCDBi1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

iPTMnetiP14867
PhosphoSitePlusiP14867

Polymorphism and mutation databases

BioMutaiGABRA1
DMDMi27808653

Proteomic databases

MaxQBiP14867
PaxDbiP14867
PeptideAtlasiP14867
PRIDEiP14867
ProteomicsDBi53091

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2554
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000023897; ENSP00000023897; ENSG00000022355
ENST00000393943; ENSP00000377517; ENSG00000022355
ENST00000428797; ENSP00000393097; ENSG00000022355
ENST00000437025; ENSP00000415441; ENSG00000022355
ENST00000635880; ENSP00000489738; ENSG00000022355
ENST00000636573; ENSP00000490320; ENSG00000022355
ENST00000637827; ENSP00000490804; ENSG00000022355
ENST00000638112; ENSP00000489839; ENSG00000022355
GeneIDi2554
KEGGihsa:2554
UCSCiuc003lyx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2554
DisGeNETi2554
EuPathDBiHostDB:ENSG00000022355.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		GABRA1
HGNCiHGNC:4075 GABRA1
HPAiCAB022502
HPA055746
MalaCardsiGABRA1
MIMi137160 gene
611136 phenotype
615744 phenotype
neXtProtiNX_P14867
OpenTargetsiENSG00000022355
Orphaneti64280 Childhood absence epilepsy
33069 Dravet syndrome
307 Juvenile myoclonic epilepsy
PharmGKBiPA28489

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3642 Eukaryota
ENOG410XNQG LUCA
GeneTreeiENSGT00940000159136
HOGENOMiHOG000231337
HOVERGENiHBG051707
InParanoidiP14867
KOiK05175
OrthoDBiEOG091G0805
PhylomeDBiP14867
TreeFamiTF315453

Enzyme and pathway databases

ReactomeiR-HSA-977441 GABA A receptor activation
R-HSA-977443 GABA receptor activation

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Gamma-aminobutyric_acid_(GABA)_A_receptor,_alpha_1
Gamma-aminobutyric_acid_receptor_subunit_alpha-1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2554

Protein Ontology

More...PROi		PR:P14867

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000022355 Expressed in 84 organ(s), highest expression level in dorsolateral prefrontal cortex
CleanExiHS_GABRA1
ExpressionAtlasiP14867 baseline and differential
GenevisibleiP14867 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR001390 GABAAa_rcpt
IPR005431 GABBAa1_rcpt
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR01079 GABAARALPHA
PR01614 GABAARALPHA1
PR00253 GABAARECEPTR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBRA1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P14867
Secondary accession number(s): D3DQK6, Q8N629
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 17, 2003
Last modified: December 5, 2018
This is version 202 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
UniProt is an ELIXIR core data resource
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