GABRA1

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
Traceable author statementⁱ
- 2465923
GABA-gated chloride ion channel activity
Source: GO_Central
Inferred from direct assayⁱ
- 9039914
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: Ensembl

Complete GO annotation...

GO - Biological processⁱ

cellular response to histamine Source: Ensembl
chloride transmembrane transport
Source: GO_Central
Inferred from direct assayⁱ
- 9039914
gamma-aminobutyric acid signaling pathway
Source: ProtInc
Traceable author statementⁱ
- 2465923
ion transmembrane transport Source: Reactome
synaptic transmission, GABAergic Source: BHF-UCL
transport
Source: ProtInc
Traceable author statementⁱ
- 2465923

Complete GO annotation...

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-975298. Ligand-gated ion channel transport. R-HSA-977441. GABA A receptor activation.

Reactomeⁱ

R-HSA-112314. Neurotransmitter receptors and postsynaptic signal transmission.
R-HSA-975298. Ligand-gated ion channel transport.
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.

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-1 Alternative name(s): GABA(A) receptor subunit alpha-1
Gene namesⁱ	Name:GABRA1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4075. GABRA1.

HGNCⁱ

HGNC:4075. GABRA1.

Subcellular locationⁱ

Topology

Feature key	Position(s)	DescriptionActions	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

GO - Cellular componentⁱ

cell junction Source: UniProtKB-KW
chloride channel complex Source: UniProtKB-KW
cytoplasmic vesicle membrane Source: UniProtKB-SubCell
GABA-A receptor complex
Source: GO_Central
Inferred from direct assayⁱ
- 9039914
GABA receptor complex Source: BHF-UCL
integral component of plasma membrane Source: BHF-UCL
plasma membrane Source: Reactome
postsynaptic membrane Source: UniProtKB-SubCell

Complete GO annotation...

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.

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.

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: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.

Feature 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.

Keywords - Diseaseⁱ

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2554.
MalaCards human disease database More...MalaCardsⁱ	GABRA1.
MIMⁱ	611136. phenotype. 615744. phenotype.
Open Targets More...OpenTargetsⁱ	ENSG00000022355.
Orphanetⁱ	64280. Childhood absence epilepsy. 33069. Dravet syndrome. 307. Juvenile myoclonic epilepsy.
PharmGKBⁱ	PA28489.

Chemistry databases

ChEMBLⁱ	CHEMBL1962.
Drug and drug target database More...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.
IUPHAR/BPS Guide to PHARMACOLOGY More...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	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, Glycoprotein

Proteomic databases

EPDⁱ	P14867.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P14867.
PaxDbⁱ	P14867.
PeptideAtlas More...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

Human Protein Atlas More...HPAⁱ	CAB022502. HPA055746.

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.
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 helix

Phylogenomic databases

eggNOGⁱ	KOG3642. Eukaryota. ENOG410XNQG. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119010.
HOGENOMⁱ	HOG000231337.
HOVERGENⁱ	HBG051707.
InParanoidⁱ	P14867.
KEGG Orthology (KO) More...KOⁱ	K05175.
Database of Orthologous Groups More...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. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS.
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.
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.

Sequenceⁱ

Sequence statusⁱ: Complete.

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

P14867-1 [UniParc]FASTA Add 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 key	Position(s)	DescriptionActions	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	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4357.1.
PIRⁱ	A31588. A60652.
NCBI Reference Sequences More...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

Ensemblⁱ	ENST00000023897; ENSP00000023897; ENSG00000022355. ENST00000393943; ENSP00000377517; ENSG00000022355. ENST00000428797; ENSP00000393097; ENSG00000022355. ENST00000437025; ENSP00000415441; ENSG00000022355. ENST00000635880; ENSP00000489738; ENSG00000022355. ENST00000636573; ENSP00000490320; ENSG00000022355. ENST00000637827; ENSP00000490804; ENSG00000022355. ENST00000638112; ENSP00000489839; ENSG00000022355.
GeneIDⁱ	2554.
KEGGⁱ	hsa:2554.
UCSC genome browser More...UCSCⁱ	uc003lyx.5. human.

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4357.1.
PIRⁱ	A31588. A60652.
NCBI Reference Sequences More...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.

3D structure databases

ProteinModelPortalⁱ	P14867.
SMRⁱ	P14867.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108828. 8 interactors.
IntActⁱ	P14867. 1 interactor.
STRINGⁱ	9606.ENSP00000023897.

Chemistry databases

BindingDBⁱ	P14867.
ChEMBLⁱ	CHEMBL1962.
Drug and drug target database More...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.
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	404.

Protein family/group databases

TCDBⁱ	1.A.9.5.4. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

TCDBⁱ

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

PTM databases

iPTMnetⁱ	P14867.
PhosphoSitePlusⁱ	P14867.

Polymorphism and mutation databases

BioMutaⁱ	GABRA1.
DMDMⁱ	27808653.

Proteomic databases

EPDⁱ	P14867.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P14867.
PaxDbⁱ	P14867.
PeptideAtlas More...PeptideAtlasⁱ	P14867.
PRIDEⁱ	P14867.

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2554.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000023897; ENSP00000023897; ENSG00000022355. ENST00000393943; ENSP00000377517; ENSG00000022355. ENST00000428797; ENSP00000393097; ENSG00000022355. ENST00000437025; ENSP00000415441; ENSG00000022355. ENST00000635880; ENSP00000489738; ENSG00000022355. ENST00000636573; ENSP00000490320; ENSG00000022355. ENST00000637827; ENSP00000490804; ENSG00000022355. ENST00000638112; ENSP00000489839; ENSG00000022355.
GeneIDⁱ	2554.
KEGGⁱ	hsa:2554.
UCSC genome browser More...UCSCⁱ	uc003lyx.5. human.

Organism-specific databases

CTDⁱ	2554.
DisGeNET More...DisGeNETⁱ	2554.
GeneCardsⁱ	GABRA1.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4075. GABRA1.
Human Protein Atlas More...HPAⁱ	CAB022502. HPA055746.
MalaCards human disease database More...MalaCardsⁱ	GABRA1.
MIMⁱ	137160. gene. 611136. phenotype. 615744. phenotype.
neXtProtⁱ	NX_P14867.
Open Targets More...OpenTargetsⁱ	ENSG00000022355.
Orphanetⁱ	64280. Childhood absence epilepsy. 33069. Dravet syndrome. 307. Juvenile myoclonic epilepsy.
PharmGKBⁱ	PA28489.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3642. Eukaryota. ENOG410XNQG. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119010.
HOGENOMⁱ	HOG000231337.
HOVERGENⁱ	HBG051707.
InParanoidⁱ	P14867.
KEGG Orthology (KO) More...KOⁱ	K05175.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0805.
PhylomeDBⁱ	P14867.
TreeFamⁱ	TF315453.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-112314. Neurotransmitter receptors and postsynaptic signal transmission. R-HSA-975298. Ligand-gated ion channel transport. R-HSA-977441. GABA A receptor activation.

Reactomeⁱ

R-HSA-112314. Neurotransmitter receptors and postsynaptic signal transmission.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Miscellaneous databases

GeneWikiⁱ	Gamma-aminobutyric_acid_(GABA)_A_receptor,_alpha_1. Gamma-aminobutyric_acid_receptor_subunit_alpha-1.
GenomeRNAiⁱ	2554.
Protein Ontology More...PROⁱ	PR:P14867.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000022355.
CleanExⁱ	HS_GABRA1.
ExpressionAtlasⁱ	P14867. baseline and differential.
Genevisibleⁱ	P14867. HS.

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. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS.
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.
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.
ProtoNetⁱ	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:	June 7, 2017
	This is version 189 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.

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Complete proteome, Reference proteome

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Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
SIMILARITY comments
Index of protein domains and families

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UniProtKB - P14867 (GBRA1_HUMAN)

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Gamma-aminobutyric acid receptor subunit alpha-1

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<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

<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

<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 - Biological processi

Enzyme and pathway databases

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<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

Organism-specific databases

<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

Topology

<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 - Cellular componenti

<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

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<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

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<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

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<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 length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

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<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_references_section">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

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<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequenceⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ