UniProtKB - P14867 (GBRA1_HUMAN)
Gamma-aminobutyric acid receptor subunit alpha-1
GABRA1
Functioni
Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725).
Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:23909897, PubMed:25489750).
The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity).
The alpha1/beta2/gamma2 receptor and the alpha1/beta3/gamma2 receptor exhibit synaptogenic activity (PubMed:23909897, PubMed:25489750).
GABRA1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection (By similarity).
Functions also as histamine receptor and mediates cellular responses to histamine (By similarity).
By similarity3 PublicationsActivity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 273 | Alphaxalone; agonist1 Publication | 1 |
GO - Molecular functioni
- 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
- neurotransmitter receptor activity Source: GO_Central
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: GO_Central
GO - Biological processi
- chemical synaptic transmission Source: GO_Central
- chloride transmembrane transport Source: GO_Central
- gamma-aminobutyric acid signaling pathway Source: ComplexPortal
- inhibitory synapse assembly Source: UniProtKB
- ion transmembrane transport Source: GO_Central
- nervous system process Source: GO_Central
- regulation of membrane potential Source: GO_Central
- regulation of postsynaptic membrane potential Source: GO_Central
- signal transduction Source: GO_Central
- 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
PathwayCommonsi | P14867 |
Reactomei | R-HSA-1236394, Signaling by ERBB4 R-HSA-977443, GABA receptor activation |
SignaLinki | P14867 |
SIGNORi | P14867 |
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
HGNCi | HGNC:4075, GABRA1 |
MIMi | 137160, gene |
neXtProti | NX_P14867 |
VEuPathDBi | HostDB:ENSG00000022355 |
Subcellular locationi
Plasma membrane
- postsynaptic cell membrane By similarity; Multi-pass membrane protein Sequence analysis
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Other locations
- Cytoplasmic vesicle membrane By similarity
Plasma Membrane
- dendrite membrane Source: GO_Central
- integral component of plasma membrane Source: BHF-UCL
- plasma membrane Source: Reactome
- postsynaptic membrane Source: UniProtKB-SubCell
Other locations
- chloride channel complex Source: UniProtKB-KW
- cytoplasmic vesicle membrane Source: UniProtKB-SubCell
- GABA receptor complex Source: BHF-UCL
- GABA-A receptor complex Source: UniProtKB
- GABA-ergic synapse Source: Ensembl
- neuron projection Source: GO_Central
- postsynapse Source: GO_Central
- synapse Source: GO_Central
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
Epilepsy, idiopathic generalized 13 (EIG13)1 Publication
Feature 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:rs587777364EnsemblClinVar. | 1 |
Juvenile myoclonic epilepsy 5 (EJM5)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013642 | 322 | A → D in EJM5. 1 PublicationCorresponds to variant dbSNP:rs121434579EnsemblClinVar. | 1 |
Developmental and epileptic encephalopathy 19 (DEE19)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071809 | 112 | R → Q in DEE19. 1 PublicationCorresponds to variant dbSNP:rs587777308EnsemblClinVar. | 1 | |
Natural variantiVAR_078222 | 146 | L → M in DEE19. 1 Publication | 1 | |
Natural variantiVAR_071811 | 251 | G → S in DEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307EnsemblClinVar. | 1 | |
Natural variantiVAR_071812 | 306 | K → T in DEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 269 | Q → L: Reduced potentiation and activation by the agonist alphaxalone. 1 Publication | 1 | |
Mutagenesisi | 273 | W → L: Completely abolishes potentiation and activation by the agonist alphaxalone. 1 Publication | 1 | |
Mutagenesisi | 333 | T → A: Reduced potentiation and activation by the agonist alphaxalone. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, 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 |
Miscellaneous databases
Pharosi | P14867, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1962 |
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 DB06470, Clomethiazole 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 DB01341, Dihydroquinidine barbiturate 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 DB01381, Ginkgo biloba 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 DB00474, Methohexital DB01028, Methoxyflurane DB00849, Methylphenobarbital DB01107, Methyprylon DB15489, Mexazolam DB00683, Midazolam DB12458, Muscimol DB01595, Nitrazepam DB14028, Nordazepam DB00334, Olanzapine DB00842, Oxazepam DB14672, Oxazepam acetate DB00312, Pentobarbital DB01174, Phenobarbital DB00252, Phenytoin DB00466, Picrotoxin DB13335, Pinazepam DB01708, Prasterone DB01588, Prazepam DB00794, Primidone DB00837, Progabide DB00818, Propofol DB01589, Quazepam DB01346, Quinidine barbiturate DB12404, Remimazolam DB00418, Secobarbital DB01236, Sevoflurane DB09118, Stiripentol DB00306, Talbutal DB01956, Taurine DB00231, Temazepam DB01154, Thiamylal DB11582, Thiocolchicoside DB00599, Thiopental DB00273, Topiramate DB00897, Triazolam DB00962, Zaleplon DB00425, Zolpidem DB01198, Zopiclone |
DrugCentrali | P14867 |
GuidetoPHARMACOLOGYi | 404 |
Genetic variation 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 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | P14867 |
MaxQBi | P14867 |
PaxDbi | P14867 |
PeptideAtlasi | P14867 |
PRIDEi | P14867 |
ProteomicsDBi | 53091 |
PTM databases
GlyGeni | P14867, 2 sites |
iPTMneti | P14867 |
PhosphoSitePlusi | P14867 |
Expressioni
Gene expression databases
Bgeei | ENSG00000022355, Expressed in dorsolateral prefrontal cortex and 109 other tissues |
ExpressionAtlasi | P14867, baseline and differential |
Genevisiblei | P14867, HS |
Organism-specific databases
HPAi | ENSG00000022355, Group enriched (brain, retina) |
Interactioni
Subunit structurei
Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:29950725, PubMed:30266951).
Interacts with UBQLN1 (By similarity).
Interacts with TRAK1 (By similarity).
Interacts with KIF21B (By similarity).
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).
Interacts with SHISA7; interaction leads regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).
By similarity4 PublicationsProtein-protein interaction databases
BioGRIDi | 108828, 11 interactors |
ComplexPortali | CPX-2159, GABA-A receptor, alpha-1/beta-2/gamma-2 CPX-2167, GABA-A receptor, alpha-1/beta-3/gamma-2 |
CORUMi | P14867 |
IntActi | P14867, 4 interactors |
STRINGi | 9606.ENSP00000393097 |
Chemistry databases
BindingDBi | P14867 |
Miscellaneous databases
RNActi | P14867, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P14867 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domaini
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3642, Eukaryota |
GeneTreei | ENSGT00940000159136 |
HOGENOMi | CLU_010920_2_1_1 |
InParanoidi | P14867 |
OMAi | DICTIQY |
OrthoDBi | 1057372at2759 |
PhylomeDBi | P14867 |
TreeFami | TF315453 |
Family and domain databases
Gene3Di | 1.20.58.390, 1 hit 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 IPR038050, Neuro_actylchol_rec 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 |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GV38 | A0A1B0GV38_HUMAN | GABA(A) receptor subunit alpha-1 | GABRA1 | 471 | Annotation score: | ||
A0A0U1RRB2 | A0A0U1RRB2_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 285 | Annotation score: | ||
E5RHL6 | E5RHL6_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 85 | Annotation score: | ||
E5RK60 | E5RK60_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 168 | Annotation score: | ||
A0A1B0GVW9 | A0A1B0GVW9_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 94 | Annotation score: | ||
E5RJS3 | E5RJS3_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 113 | Annotation score: | ||
A0A0U1RQJ3 | A0A0U1RQJ3_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 35 | Annotation score: | ||
A0A1B0GU82 | A0A1B0GU82_HUMAN | Gamma-aminobutyric acid receptor su... | GABRA1 | 70 | Annotation score: |
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 DEE19. 1 PublicationCorresponds to variant dbSNP:rs587777308EnsemblClinVar. | 1 | |
Natural variantiVAR_078222 | 146 | L → M in DEE19. 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:rs587777364EnsemblClinVar. | 1 | |
Natural variantiVAR_071811 | 251 | G → S in DEE19. 1 PublicationCorresponds to variant dbSNP:rs587777307EnsemblClinVar. | 1 | |
Natural variantiVAR_071812 | 306 | K → T in DEE19. 1 PublicationCorresponds to variant dbSNP:rs587777309EnsemblClinVar. | 1 | |
Natural variantiVAR_013642 | 322 | A → 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 |
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 |
Genome annotation databases
Similar proteinsi
Cross-referencesi
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 |
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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6CDU | X-ray | 3.45 | A/B/C/D/E/F/G/H/I/J | 249-340 | [»] | |
A/B/C/D/E/F/G/H/I/J | 415-444 | [»] | ||||
6D1S | X-ray | 3.20 | A/B/C/D/E/F/G/H/I/J | 249-340 | [»] | |
A/B/C/D/E/F/G/H/I/J | 415-444 | [»] | ||||
6D6T | electron microscopy | 3.80 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6D6U | electron microscopy | 3.80 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6HUG | electron microscopy | 3.10 | A/D | 28-456 | [»] | |
6HUJ | electron microscopy | 3.04 | A/D | 1-456 | [»] | |
6HUK | electron microscopy | 3.69 | A/D | 1-456 | [»] | |
6HUO | electron microscopy | 3.26 | A/D | 1-456 | [»] | |
6HUP | electron microscopy | 3.58 | A/D | 1-456 | [»] | |
6I53 | electron microscopy | 3.20 | A/D | 1-456 | [»] | |
6X3S | electron microscopy | 3.12 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6X3T | electron microscopy | 2.55 | B/D | 28-339 | [»] | |
B/D | 419-456 | [»] | ||||
6X3U | electron microscopy | 3.49 | B/D | 28-339 | [»] | |
B/D | 419-456 | [»] | ||||
6X3V | electron microscopy | 3.50 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6X3W | electron microscopy | 3.30 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6X3X | electron microscopy | 2.92 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6X3Z | electron microscopy | 3.23 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
6X40 | electron microscopy | 2.86 | B/D | 28-339 | [»] | |
B/D | 418-456 | [»] | ||||
SMRi | P14867 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108828, 11 interactors |
ComplexPortali | CPX-2159, GABA-A receptor, alpha-1/beta-2/gamma-2 CPX-2167, GABA-A receptor, alpha-1/beta-3/gamma-2 |
CORUMi | P14867 |
IntActi | P14867, 4 interactors |
STRINGi | 9606.ENSP00000393097 |
Chemistry databases
BindingDBi | P14867 |
ChEMBLi | CHEMBL1962 |
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 DB06470, Clomethiazole 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 DB01341, Dihydroquinidine barbiturate 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 DB01381, Ginkgo biloba 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 DB00474, Methohexital DB01028, Methoxyflurane DB00849, Methylphenobarbital DB01107, Methyprylon DB15489, Mexazolam DB00683, Midazolam DB12458, Muscimol DB01595, Nitrazepam DB14028, Nordazepam DB00334, Olanzapine DB00842, Oxazepam DB14672, Oxazepam acetate DB00312, Pentobarbital DB01174, Phenobarbital DB00252, Phenytoin DB00466, Picrotoxin DB13335, Pinazepam DB01708, Prasterone DB01588, Prazepam DB00794, Primidone DB00837, Progabide DB00818, Propofol DB01589, Quazepam DB01346, Quinidine barbiturate DB12404, Remimazolam DB00418, Secobarbital DB01236, Sevoflurane DB09118, Stiripentol DB00306, Talbutal DB01956, Taurine DB00231, Temazepam DB01154, Thiamylal DB11582, Thiocolchicoside DB00599, Thiopental DB00273, Topiramate DB00897, Triazolam DB00962, Zaleplon DB00425, Zolpidem DB01198, Zopiclone |
DrugCentrali | P14867 |
GuidetoPHARMACOLOGYi | 404 |
Protein family/group databases
TCDBi | 1.A.9.5.4, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
PTM databases
GlyGeni | P14867, 2 sites |
iPTMneti | P14867 |
PhosphoSitePlusi | P14867 |
Genetic variation databases
BioMutai | GABRA1 |
DMDMi | 27808653 |
Proteomic databases
MassIVEi | P14867 |
MaxQBi | P14867 |
PaxDbi | P14867 |
PeptideAtlasi | P14867 |
PRIDEi | P14867 |
ProteomicsDBi | 53091 |
Protocols and materials databases
ABCDi | P14867, 4 sequenced antibodies |
Antibodypediai | 4533, 503 antibodies from 43 providers |
DNASUi | 2554 |
Genome annotation databases
Organism-specific databases
CTDi | 2554 |
DisGeNETi | 2554 |
GeneCardsi | GABRA1 |
HGNCi | HGNC:4075, GABRA1 |
HPAi | ENSG00000022355, Group enriched (brain, retina) |
MalaCardsi | GABRA1 |
MIMi | 137160, gene 611136, phenotype 615744, phenotype |
neXtProti | NX_P14867 |
OpenTargetsi | ENSG00000022355 |
Orphaneti | 64280, Childhood absence epilepsy 33069, Dravet syndrome 307, Juvenile myoclonic epilepsy |
PharmGKBi | PA28489 |
VEuPathDBi | HostDB:ENSG00000022355 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3642, Eukaryota |
GeneTreei | ENSGT00940000159136 |
HOGENOMi | CLU_010920_2_1_1 |
InParanoidi | P14867 |
OMAi | DICTIQY |
OrthoDBi | 1057372at2759 |
PhylomeDBi | P14867 |
TreeFami | TF315453 |
Enzyme and pathway databases
PathwayCommonsi | P14867 |
Reactomei | R-HSA-1236394, Signaling by ERBB4 R-HSA-977443, GABA receptor activation |
SignaLinki | P14867 |
SIGNORi | P14867 |
Miscellaneous databases
BioGRID-ORCSi | 2554, 5 hits in 1035 CRISPR screens |
ChiTaRSi | GABRA1, human |
GeneWikii | Gamma-aminobutyric_acid_(GABA)_A_receptor,_alpha_1 Gamma-aminobutyric_acid_receptor_subunit_alpha-1 |
GenomeRNAii | 2554 |
Pharosi | P14867, Tclin |
PROi | PR:P14867 |
RNActi | P14867, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000022355, Expressed in dorsolateral prefrontal cortex and 109 other tissues |
ExpressionAtlasi | P14867, baseline and differential |
Genevisiblei | P14867, HS |
Family and domain databases
Gene3Di | 1.20.58.390, 1 hit 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 IPR038050, Neuro_actylchol_rec 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 |
MobiDBi | Search... |
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: | February 23, 2022 | |
This is version 221 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries