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Protein

Gamma-aminobutyric acid receptor subunit alpha-1

Gene

GABRA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

  • cellular response to histamine Source: Ensembl
  • chloride transmembrane transport Source: GO_Central
  • gamma-aminobutyric acid signaling pathway Source: ProtInc
  • synaptic transmission, GABAergic Source: BHF-UCL

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-977441 GABA A receptor activation

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-1
Alternative name(s):
GABA(A) receptor subunit alpha-1
Gene namesi
Name:GABRA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000022355.15
HGNCiHGNC:4075 GABRA1
MIMi137160 gene
neXtProtiNX_P14867

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
Topological domaini28 – 251ExtracellularCuratedAdd BLAST224
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

Pathology & Biotechi

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
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

DisGeNETi2554
MalaCardsiGABRA1
MIMi611136 phenotype
615744 phenotype
OpenTargetsiENSG00000022355
Orphaneti64280 Childhood absence epilepsy
33069 Dravet syndrome
307 Juvenile myoclonic epilepsy
PharmGKBiPA28489

Chemistry databases

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

Polymorphism and mutation databases

BioMutaiGABRA1
DMDMi27808653

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000000042828 – 456Gamma-aminobutyric acid receptor subunit alpha-1Add BLAST429

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi166 ↔ 180By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP14867
PaxDbiP14867
PeptideAtlasiP14867
PRIDEiP14867

PTM databases

iPTMnetiP14867
PhosphoSitePlusiP14867

Expressioni

Gene expression databases

BgeeiENSG00000022355
CleanExiHS_GABRA1
ExpressionAtlasiP14867 baseline and differential
GenevisibleiP14867 HS

Organism-specific databases

HPAiCAB022502
HPA055746

Interactioni

Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with UBQLN1. Interacts with TRAK1. Interacts with KIF21B.By similarity

Protein-protein interaction databases

BioGridi108828, 8 interactors
CORUMiP14867
IntActiP14867, 1 interactor
STRINGi9606.ENSP00000023897

Chemistry databases

BindingDBiP14867

Structurei

3D structure databases

ProteinModelPortaliP14867
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642 Eukaryota
ENOG410XNQG LUCA
GeneTreeiENSGT00760000119010
HOGENOMiHOG000231337
HOVERGENiHBG051707
InParanoidiP14867
KOiK05175
OrthoDBiEOG091G0805
PhylomeDBiP14867
TreeFamiTF315453

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

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:iF81EC9ECBE64E94D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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

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

Similar proteinsi

Entry informationi

Entry nameiGBRA1_HUMAN
AccessioniPrimary (citable) accession number: P14867
Secondary accession number(s): D3DQK6, Q8N629
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 17, 2003
Last modified: April 25, 2018
This is version 197 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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