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UniProtKB - P31644 (GBRA5_HUMAN)

Entry version 199 (02 Dec 2020)
Sequence version 1 (01 Jul 1993)
Previous versions | rss
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Protein

Gamma-aminobutyric acid receptor subunit alpha-5

Gene

GABRA5

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

Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671).2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P31644

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-977443, GABA receptor activation

<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%5Fand%5Ftaxonomy%5Fsection">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-5
Alternative name(s):
GABA(A) receptor subunit alpha-5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GABRA5Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000186297.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:4079, GABRA5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		137142, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P31644

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini32 – 259ExtracellularSequence analysisAdd BLAST228
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei260 – 281HelicalSequence analysisAdd BLAST22
Transmembranei286 – 307HelicalSequence analysisAdd BLAST22
Transmembranei319 – 341HelicalSequence analysisAdd BLAST23
Topological domaini342 – 427CytoplasmicSequence analysisAdd BLAST86
Transmembranei428 – 449HelicalSequence analysisAdd BLAST22

Keywords - Cellular componenti

Cell junction, Cell membrane, 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

Epileptic encephalopathy, early infantile, 79 (EIEE79)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum.
Related information in OMIM
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_083201294V → F in EIEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway. 1 Publication1
Natural variantiVAR_083202294V → L in EIEE79; increased affinity to GABA; decreased maximal GABA-evoked current density. 1 Publication1
Natural variantiVAR_083203413S → F in EIEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway; the mutant subunit decreases the trafficking of the partnering GABRB3 subunit to the cell membrane with no effect on other subunits. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		2558

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GABRA5

MalaCards human disease database

More...MalaCardsi		GABRA5
MIMi618559, phenotype

Open Targets

More...OpenTargetsi		ENSG00000186297

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

More...Orphaneti		442835, Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28493

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P31644, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5112

Drug and drug target database

More...DrugBanki		DB00659, Acamprosate
DB00546, Adinazolam
DB06579, Adipiplon
DB00404, Alprazolam
DB01351, Amobarbital
DB00543, Amoxapine
DB11901, Apalutamide
DB01352, Aprobarbital
DB01483, Barbital
DB14719, Bentazepam
DB12537, Benzodiazepine
DB11859, Brexanolone
DB01558, Bromazepam
DB09017, Brotizolam
DB00237, Butabarbital
DB00241, Butalbital
DB01353, Butobarbital
DB01489, Camazepam
DB00395, Carisoprodol
DB00475, Chlordiazepoxide
DB14715, Cinazepam
DB01594, Cinolazepam
DB00349, Clobazam
DB01068, Clonazepam
DB00628, Clorazepic acid
DB01559, Clotiazepam
DB01553, Cloxazolam
DB01511, Delorazepam
DB01189, Desflurane
DB00829, Diazepam
DB01496, Dihydro-2-thioxo-5-((5-(2-(trifluoromethyl)phenyl)-2-furanyl)methyl)-4,6(1H,5H)-pyrimidinedione
DB13837, Doxefazepam
DB00228, Enflurane
DB01215, Estazolam
DB00402, Eszopiclone
DB00898, Ethanol
DB00189, Ethchlorvynol
DB01545, Ethyl loflazepate
DB09166, Etizolam
DB00292, Etomidate
DB01567, Fludiazepam
DB01205, Flumazenil
DB01544, Flunitrazepam
DB00690, Flurazepam
DB05087, Ganaxolone
DB01437, Glutethimide
DB00801, Halazepam
DB01159, Halothane
DB01354, Heptabarbital
DB01355, Hexobarbital
DB00753, Isoflurane
DB01587, Ketazolam
DB00555, Lamotrigine
DB13643, Loprazolam
DB00186, Lorazepam
DB13872, Lormetazepam
DB13437, Medazepam
DB00603, Medroxyprogesterone acetate
DB01043, Memantine
DB00371, Meprobamate
DB00463, Metharbital
DB01028, Methoxyflurane
DB00849, Methylphenobarbital
DB01107, Methyprylon
DB15489, Mexazolam
DB00683, Midazolam
DB01595, Nitrazepam
DB14028, Nordazepam
DB00334, Olanzapine
DB00842, Oxazepam
DB14672, Oxazepam acetate
DB00312, Pentobarbital
DB00252, Phenytoin
DB13335, Pinazepam
DB01708, Prasterone
DB01588, Prazepam
DB00794, Primidone
DB00818, Propofol
DB01589, Quazepam
DB00418, Secobarbital
DB01236, Sevoflurane
DB09118, Stiripentol
DB00306, Talbutal
DB01956, Taurine
DB00231, Temazepam
DB11582, Thiocolchicoside
DB00599, Thiopental
DB00897, Triazolam
DB01198, Zopiclone

DrugCentral

More...DrugCentrali		P31644

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		408

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GABRA5

Domain mapping of disease mutations (DMDM)

More...DMDMi		399519

<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 – 31Sequence analysisAdd BLAST31
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000044432 – 462Gamma-aminobutyric acid receptor subunit alpha-5Add BLAST431

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi45N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi145N-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 bondi173 ↔ 187By similarity
Glycosylationi207N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki355Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Isopeptide bond, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P31644

MaxQB - The MaxQuant DataBase

More...MaxQBi		P31644

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

More...PaxDbi		P31644

PeptideAtlas

More...PeptideAtlasi		P31644

PRoteomics IDEntifications database

More...PRIDEi		P31644

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54797

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P31644, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P31644

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

More...PhosphoSitePlusi		P31644

<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		ENSG00000186297, Expressed in nucleus accumbens and 112 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P31644, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P31644, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000186297, Tissue enriched (brain)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Generally pentameric. There are five types of GABA(A) receptor subunits: alpha, beta, gamma, delta, and rho.

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108832, 1 interactor

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2168, GABA-A receptor, alpha-5/beta-3/gamma-2

Protein interaction database and analysis system

More...IntActi		P31644, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000335592

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P31644

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P31644, protein

<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

1462
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P31644

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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. GABRA5 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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156234

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010920_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P31644

Identification of Orthologs from Complete Genome Data

More...OMAi		WDGKKAQ

Database of Orthologous Groups

More...OrthoDBi		1057372at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P31644

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
IPR005435, GABBAa5_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
PR01618, GABAARALPHA5
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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 6 potential isoforms that are computationally mapped.Show allAlign All

P31644-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT 
        60         70         80         90        100
RILDGLLDGY DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF 
       110        120        130        140        150
RQSWKDERLR FKGPMQRLPL NNLLASKIWT PDTFFHNGKK SIAHNMTTPN 
       160        170        180        190        200
KLLRLEDDGT LLYTMRLTIS AECPMQLEDF PMDAHACPLK FGSYAYPNSE 
       210        220        230        240        250
VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS TGEYTIMTAH 
       260        270        280        290        300
FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM 
       310        320        330        340        350
TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA 
       360        370        380        390        400
WDGKKALEAA KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT 
       410        420        430        440        450
TSVSVKPSEE KTSESKKTYN SISKIDKMSR IVFPVLFGTF NLVYWATYLN 
       460 
REPVIKGAAS PK
Length:462
Mass (Da):52,146
Last modified:July 1, 1993 - v1
<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:i260A8B554113AFF9
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V2K2G3V2K2_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA5
165Annotation 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>
G3V2Q9G3V2Q9_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA5
148Annotation 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>
G3V408G3V408_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA5
86Annotation 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>
G3V2G8G3V2G8_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA5
166Annotation 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>
G3V296G3V296_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA5
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>
G3V2Y5G3V2Y5_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA5
16Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083201294V → F in EIEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway. 1 Publication1
Natural variantiVAR_083202294V → L in EIEE79; increased affinity to GABA; decreased maximal GABA-evoked current density. 1 Publication1
Natural variantiVAR_083203413S → F in EIEE79; decreased subcellular localization to the cell membrane resulting in altered protein localization to the synapse and altered gamma-aminobutyric acid signaling pathway; the mutant subunit decreases the trafficking of the partnering GABRB3 subunit to the cell membrane with no effect on other subunits. 1 Publication1

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
L08485 mRNA Translation: AAA58490.1
AK290453 mRNA Translation: BAF83142.1
BT009830 mRNA Translation: AAP88832.1
BC111979 mRNA Translation: AAI11980.1
BC113422 mRNA Translation: AAI13423.1
AF061785 Genomic DNA Translation: AAC31809.1
AF228447 Genomic DNA Translation: AAF62508.1
AF228448 Genomic DNA Translation: AAF62509.1
AF228449 Genomic DNA Translation: AAF62510.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS45194.1

Protein sequence database of the Protein Information Resource

More...PIRi		A48933

NCBI Reference Sequences

More...RefSeqi		NP_000801.1, NM_000810.3
NP_001158509.1, NM_001165037.1
XP_005268315.1, XM_005268258.2
XP_006720522.1, XM_006720459.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000335625; ENSP00000335592; ENSG00000186297
ENST00000355395; ENSP00000347557; ENSG00000186297
ENST00000400081; ENSP00000382953; ENSG00000186297

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2558

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2558

UCSC genome browser

More...UCSCi		uc001zbd.3, 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%5Freferences%5Fsection">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
L08485 mRNA Translation: AAA58490.1
AK290453 mRNA Translation: BAF83142.1
BT009830 mRNA Translation: AAP88832.1
BC111979 mRNA Translation: AAI11980.1
BC113422 mRNA Translation: AAI13423.1
AF061785 Genomic DNA Translation: AAC31809.1
AF228447 Genomic DNA Translation: AAF62508.1
AF228448 Genomic DNA Translation: AAF62509.1
AF228449 Genomic DNA Translation: AAF62510.1
CCDSiCCDS45194.1
PIRiA48933
RefSeqiNP_000801.1, NM_000810.3
NP_001158509.1, NM_001165037.1
XP_005268315.1, XM_005268258.2
XP_006720522.1, XM_006720459.2

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
5O8FX-ray3.20A/B/C/D/E261-346[»]
A/B/C/D/E424-462[»]
5OJMX-ray3.30A/B/C/D/E257-346[»]
A/B/C/D/E424-462[»]
6A96electron microscopy3.51A1-346[»]
A424-462[»]
SMRiP31644
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108832, 1 interactor
ComplexPortaliCPX-2168, GABA-A receptor, alpha-5/beta-3/gamma-2
IntActiP31644, 1 interactor
STRINGi9606.ENSP00000335592

Chemistry databases

BindingDBiP31644
ChEMBLiCHEMBL5112
DrugBankiDB00659, Acamprosate
DB00546, Adinazolam
DB06579, Adipiplon
DB00404, Alprazolam
DB01351, Amobarbital
DB00543, Amoxapine
DB11901, Apalutamide
DB01352, Aprobarbital
DB01483, Barbital
DB14719, Bentazepam
DB12537, Benzodiazepine
DB11859, Brexanolone
DB01558, Bromazepam
DB09017, Brotizolam
DB00237, Butabarbital
DB00241, Butalbital
DB01353, Butobarbital
DB01489, Camazepam
DB00395, Carisoprodol
DB00475, Chlordiazepoxide
DB14715, Cinazepam
DB01594, Cinolazepam
DB00349, Clobazam
DB01068, Clonazepam
DB00628, Clorazepic acid
DB01559, Clotiazepam
DB01553, Cloxazolam
DB01511, Delorazepam
DB01189, Desflurane
DB00829, Diazepam
DB01496, Dihydro-2-thioxo-5-((5-(2-(trifluoromethyl)phenyl)-2-furanyl)methyl)-4,6(1H,5H)-pyrimidinedione
DB13837, Doxefazepam
DB00228, Enflurane
DB01215, Estazolam
DB00402, Eszopiclone
DB00898, Ethanol
DB00189, Ethchlorvynol
DB01545, Ethyl loflazepate
DB09166, Etizolam
DB00292, Etomidate
DB01567, Fludiazepam
DB01205, Flumazenil
DB01544, Flunitrazepam
DB00690, Flurazepam
DB05087, Ganaxolone
DB01437, Glutethimide
DB00801, Halazepam
DB01159, Halothane
DB01354, Heptabarbital
DB01355, Hexobarbital
DB00753, Isoflurane
DB01587, Ketazolam
DB00555, Lamotrigine
DB13643, Loprazolam
DB00186, Lorazepam
DB13872, Lormetazepam
DB13437, Medazepam
DB00603, Medroxyprogesterone acetate
DB01043, Memantine
DB00371, Meprobamate
DB00463, Metharbital
DB01028, Methoxyflurane
DB00849, Methylphenobarbital
DB01107, Methyprylon
DB15489, Mexazolam
DB00683, Midazolam
DB01595, Nitrazepam
DB14028, Nordazepam
DB00334, Olanzapine
DB00842, Oxazepam
DB14672, Oxazepam acetate
DB00312, Pentobarbital
DB00252, Phenytoin
DB13335, Pinazepam
DB01708, Prasterone
DB01588, Prazepam
DB00794, Primidone
DB00818, Propofol
DB01589, Quazepam
DB00418, Secobarbital
DB01236, Sevoflurane
DB09118, Stiripentol
DB00306, Talbutal
DB01956, Taurine
DB00231, Temazepam
DB11582, Thiocolchicoside
DB00599, Thiopental
DB00897, Triazolam
DB01198, Zopiclone
DrugCentraliP31644
GuidetoPHARMACOLOGYi408

PTM databases

GlyGeniP31644, 4 sites
iPTMnetiP31644
PhosphoSitePlusiP31644

Polymorphism and mutation databases

BioMutaiGABRA5
DMDMi399519

Proteomic databases

MassIVEiP31644
MaxQBiP31644
PaxDbiP31644
PeptideAtlasiP31644
PRIDEiP31644
ProteomicsDBi54797

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P31644, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22325, 350 antibodies

The DNASU plasmid repository

More...DNASUi		2558

Genome annotation databases

EnsembliENST00000335625; ENSP00000335592; ENSG00000186297
ENST00000355395; ENSP00000347557; ENSG00000186297
ENST00000400081; ENSP00000382953; ENSG00000186297
GeneIDi2558
KEGGihsa:2558
UCSCiuc001zbd.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2558
DisGeNETi2558
EuPathDBiHostDB:ENSG00000186297.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		GABRA5
GeneReviewsiGABRA5
HGNCiHGNC:4079, GABRA5
HPAiENSG00000186297, Tissue enriched (brain)
MalaCardsiGABRA5
MIMi137142, gene
618559, phenotype
neXtProtiNX_P31644
OpenTargetsiENSG00000186297
Orphaneti442835, Undetermined early-onset epileptic encephalopathy
PharmGKBiPA28493

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3642, Eukaryota
GeneTreeiENSGT00940000156234
HOGENOMiCLU_010920_2_1_1
InParanoidiP31644
OMAiWDGKKAQ
OrthoDBi1057372at2759
PhylomeDBiP31644
TreeFamiTF315453

Enzyme and pathway databases

PathwayCommonsiP31644
ReactomeiR-HSA-977443, GABA receptor activation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2558, 6 hits in 843 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GABRA5, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GABRA5

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

More...GenomeRNAii		2558
PharosiP31644, Tclin

Protein Ontology

More...PROi		PR:P31644
RNActiP31644, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000186297, Expressed in nucleus accumbens and 112 other tissues
ExpressionAtlasiP31644, baseline and differential
GenevisibleiP31644, HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028, GABAA/Glycine_rcpt
IPR001390, GABAAa_rcpt
IPR005435, GABBAa5_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
PR01618, GABAARALPHA5
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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiGBRA5_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: P31644
Secondary accession number(s): A8K338
, Q14DC2, Q53XL6, Q9NYT3, Q9NYT4, Q9NYT5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: December 2, 2020
This is version 199 of the entry and version 1 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, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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