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UniProtKB - P14867 (GBRA1_HUMAN)

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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

View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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:rs587777364Ensembl.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:rs121434579Ensembl.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:rs587777308Ensembl.1
Natural variantiVAR_078222146L → M in EIEE19. 1 Publication1
Natural variantiVAR_071811251G → S in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307Ensembl.1
Natural variantiVAR_071812306K → T in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309Ensembl.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.
SMRiP14867.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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

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:rs587777308Ensembl.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:rs587777364Ensembl.1
Natural variantiVAR_071811251G → S in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307Ensembl.1
Natural variantiVAR_071812306K → T in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309Ensembl.1
Natural variantiVAR_013642322A → D in EJM5. 1 PublicationCorresponds to variant dbSNP:rs121434579Ensembl.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: March 28, 2018
This is version 196 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