UniProtKB - P14867 (GBRA1_HUMAN)
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Protein
Gamma-aminobutyric acid receptor subunit alpha-1
Gene
GABRA1
Organism
Homo sapiens (Human)
Status
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
- drug binding Source: BHF-UCL
- GABA-A receptor activity Source: ProtInc
- GABA-gated chloride ion channel activity Source: GO_Central
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: Ensembl
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 function | Chloride channel, Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
Reactomei | R-HSA-112314. Neurotransmitter receptors and postsynaptic signal transmission. R-HSA-977441. GABA A receptor activation. |
Protein family/group databases
TCDBi | 1.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-1Alternative name(s): GABA(A) receptor subunit alpha-1 |
Gene namesi | Name:GABRA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000022355.15. |
HGNCi | HGNC:4075. GABRA1. |
MIMi | 137160. gene. |
neXtProti | NX_P14867. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 28 – 251 | ExtracellularCuratedAdd BLAST | 224 | |
Transmembranei | 252 – 273 | HelicalCuratedAdd BLAST | 22 | |
Transmembranei | 279 – 300 | HelicalCuratedAdd BLAST | 22 | |
Transmembranei | 313 – 334 | HelicalCuratedAdd BLAST | 22 | |
Topological domaini | 335 – 421 | CytoplasmicCuratedAdd BLAST | 87 | |
Transmembranei | 422 – 443 | HelicalCuratedAdd BLAST | 22 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, SynapsePathology & 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:611136Epilepsy, 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:611136Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071810 | 219 | D → 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:611136Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013642 | 322 | A → 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:615744Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071809 | 112 | R → Q in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777308Ensembl. | 1 | |
Natural variantiVAR_078222 | 146 | L → M in EIEE19. 1 Publication | 1 | |
Natural variantiVAR_071811 | 251 | G → S in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307Ensembl. | 1 | |
Natural variantiVAR_071812 | 306 | K → T in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 2554. |
MalaCardsi | GABRA1. |
MIMi | 611136. phenotype. 615744. phenotype. |
OpenTargetsi | ENSG00000022355. |
Orphaneti | 64280. Childhood absence epilepsy. 33069. Dravet syndrome. 307. Juvenile myoclonic epilepsy. |
PharmGKBi | PA28489. |
Chemistry databases
ChEMBLi | CHEMBL1962. |
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. |
GuidetoPHARMACOLOGYi | 404. |
Polymorphism and mutation databases
BioMutai | GABRA1. |
DMDMi | 27808653. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 27 | Sequence analysisAdd BLAST | 27 | |
ChainiPRO_0000000428 | 28 – 456 | Gamma-aminobutyric acid receptor subunit alpha-1Add BLAST | 429 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 38 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 138 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 166 ↔ 180 | By similarity |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MaxQBi | P14867. |
PaxDbi | P14867. |
PeptideAtlasi | P14867. |
PRIDEi | P14867. |
PTM databases
iPTMneti | P14867. |
PhosphoSitePlusi | P14867. |
Expressioni
Gene expression databases
Bgeei | ENSG00000022355. |
CleanExi | HS_GABRA1. |
ExpressionAtlasi | P14867. baseline and differential. |
Genevisiblei | P14867. HS. |
Organism-specific databases
HPAi | CAB022502. 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
BioGridi | 108828. 8 interactors. |
CORUMi | P14867. |
IntActi | P14867. 1 interactor. |
STRINGi | 9606.ENSP00000023897. |
Chemistry databases
BindingDBi | P14867. |
Structurei
3D structure databases
ProteinModelPortali | P14867. |
SMRi | P14867. |
ModBasei | Search... |
MobiDBi | Search... |
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 helixPhylogenomic databases
eggNOGi | KOG3642. Eukaryota. ENOG410XNQG. LUCA. |
GeneTreei | ENSGT00760000119010. |
HOGENOMi | HOG000231337. |
HOVERGENi | HBG051707. |
InParanoidi | P14867. |
KOi | K05175. |
OrthoDBi | EOG091G0805. |
PhylomeDBi | P14867. |
TreeFami | TF315453. |
Family and domain databases
Gene3Di | 2.70.170.10. 1 hit. |
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. |
PANTHERi | PTHR18945. PTHR18945. 1 hit. |
Pfami | View protein in Pfam PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. |
PRINTSi | PR01079. GABAARALPHA. PR01614. GABAARALPHA1. PR00253. GABAARECEPTR. PR00252. NRIONCHANNEL. |
SUPFAMi | SSF63712. SSF63712. 1 hit. SSF90112. SSF90112. 1 hit. |
TIGRFAMsi | TIGR00860. LIC. 1 hit. |
PROSITEi | View protein in PROSITE PS00236. NEUROTR_ION_CHANNEL. 1 hit. |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P14867-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 122 | W → R in CAA32874 (PubMed:2465923).Curated | 1 | |
Sequence conflicti | 128 – 140 | Missing in CAA31925 (PubMed:2847710).CuratedAdd BLAST | 13 | |
Sequence conflicti | 204 | R → H in CAA31925 (PubMed:2847710).Curated | 1 | |
Sequence conflicti | 315 | W → WDW in CAA31925 (PubMed:2847710).Curated | 1 | |
Sequence conflicti | 362 – 365 | IKKN → FPNS in CAA31925 (PubMed:2847710).Curated | 4 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071809 | 112 | R → Q in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777308Ensembl. | 1 | |
Natural variantiVAR_078222 | 146 | L → M in EIEE19. 1 Publication | 1 | |
Natural variantiVAR_071810 | 219 | D → 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_071811 | 251 | G → S in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307Ensembl. | 1 | |
Natural variantiVAR_071812 | 306 | K → T in EIEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309Ensembl. | 1 | |
Natural variantiVAR_013642 | 322 | A → 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. |
CCDSi | CCDS4357.1. |
PIRi | A31588. A60652. |
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. |
UniGenei | Hs.175934. |
Genome annotation databases
Similar proteinsi
Entry informationi
Entry namei | GBRA1_HUMAN | |
Accessioni | P14867Primary (citable) accession number: P14867 Secondary accession number(s): D3DQK6, Q8N629 | |
Entry historyi | Integrated 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 statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |