Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2554
Gene name	Gamma-aminobutyric acid type A receptor subunit alpha1
Gene symbol	GABRA1
Synonyms (NCBI Gene)	DEE19ECA4EIEE19EJMEJM5
Chromosome	5
Chromosome location	5q34
Summary	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be mo

Show/Hide all (38)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41308303	C>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121434579	C>A	Risk-factor	Coding sequence variant, missense variant
rs188133840	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs190024862	G>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200750234	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs374616425	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587777307	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777308	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587777309	A>C	Pathogenic	Coding sequence variant, missense variant
rs587777364	G>A	Risk-factor	Coding sequence variant, missense variant
rs727503940	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs769743354	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs775157869	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727962	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796052488	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796052491	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs796052492	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796052493	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796052494	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796052495	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052496	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052497	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863225292	G>A	Pathogenic	Coding sequence variant, missense variant
rs879253748	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039373	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1060499553	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793933	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064794681	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795283	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795805	A>G	Likely-pathogenic	Splice acceptor variant
rs1131691884	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1313965409	A>G	Likely-pathogenic	Splice acceptor variant
rs1376907797	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554087620	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1561584736	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1561587715	TGCTCACCATGACAACATTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581220163	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1581220270	C>-	Risk-factor	Coding sequence variant, frameshift variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019183	hsa-miR-335-5p	Microarray	18185580
MIRT668229	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT668228	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT668227	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT668226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT668225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT668224	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT668223	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT668222	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT668221	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT668220	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT668219	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT668218	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT668217	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT668216	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT668229	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT668228	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT668227	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT668226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT668225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT668224	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT668223	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT668222	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT668221	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT668220	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT668219	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT668218	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT668217	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT668216	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT1009759	hsa-miR-1237	CLIP-seq
MIRT1009760	hsa-miR-153	CLIP-seq
MIRT1009761	hsa-miR-3613-3p	CLIP-seq
MIRT1009762	hsa-miR-374a	CLIP-seq
MIRT1009763	hsa-miR-374b	CLIP-seq
MIRT1009764	hsa-miR-4276	CLIP-seq
MIRT1009765	hsa-miR-4302	CLIP-seq
MIRT1009766	hsa-miR-433	CLIP-seq
MIRT1009767	hsa-miR-4421	CLIP-seq
MIRT1009768	hsa-miR-4659a-3p	CLIP-seq
MIRT1009769	hsa-miR-4659b-3p	CLIP-seq
MIRT1009770	hsa-miR-4724-3p	CLIP-seq
MIRT1009771	hsa-miR-4729	CLIP-seq
MIRT1009772	hsa-miR-494	CLIP-seq
MIRT1009773	hsa-miR-515-5p	CLIP-seq
MIRT1009774	hsa-miR-544	CLIP-seq
MIRT1009775	hsa-miR-561	CLIP-seq
MIRT1009776	hsa-miR-1324	CLIP-seq
MIRT1009761	hsa-miR-3613-3p	CLIP-seq
MIRT1009777	hsa-miR-4428	CLIP-seq
MIRT1549141	hsa-miR-192	CLIP-seq
MIRT1549142	hsa-miR-215	CLIP-seq
MIRT1549143	hsa-miR-595	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IDA	23909897, 30602789
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0004890	Function	GABA-A receptor activity	TAS	2465923
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2465923
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	29950725, 30602789
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	2465923
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	ISS
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	23909897
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	2538761, 9039914, 30602789
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	23909897
GO:0051932	Process	Synaptic transmission, GABAergic	ISS
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	29950725, 30602789
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914, 29950725, 30602789
GO:1902710	Component	GABA receptor complex	ISS
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IDA	9039914, 30266951
GO:1902711	Component	GABA-A receptor complex	IPI	29950725, 30602789
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IBA
GO:1904862	Process	Inhibitory synapse assembly	IDA	23909897, 25489750
GO:1904862	Process	Inhibitory synapse assembly	IEA

MIM	HGNC	e!Ensembl
137160	4075	ENSG00000022355

P14867

Protein name

Gamma-aminobutyric acid receptor subunit alpha-1 (GABA(A) receptor subunit alpha-1) (GABAAR subunit alpha-1)

Protein function

Alpha subunit of the heteropentameric ligand-gated chloride channel gated by Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725, PubMed:30602789). GABA-gated chlori

PDB

6CDU , 6D1S , 6D6T , 6D6U , 6HUG , 6HUJ , 6HUK , 6HUO , 6HUP , 6I53 , 6X3S , 6X3T , 6X3U , 6X3V , 6X3W , 6X3X , 6X3Z , 6X40 , 7PBD , 7PBZ , 7PC0 , 7QNE , 7T0W , 7T0Z , 8DD2 , 8DD3 , 8SGO , 8SI9 , 8SID , 8VQY , 8VRN , 9CRS , 9CRV , 9CSB , 9CT0 , 9CTJ , 9CTP , 9CTV , 9CX7 , 9CXA , 9CXB , 9CXC , 9CXD , 9DRX , 9EQG , 9H9E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	42 → 250	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	257 → 348	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG
LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC
PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM
TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP
LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ

Sequence length

456

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Taste transduction Morphine addiction Nicotine addiction		GABA receptor activation

1406

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 19	Pathogenic; Likely pathogenic	rs587777307, rs587777309, rs2532239106, rs2532280628, rs2532261903, rs863225292, rs879253748, rs727503940, rs886039373, rs1060499553, rs796052493, rs1561587715, rs1376907797, rs1561584736, rs1554086436 View all (4 more)	RCV000114936 RCV000114938 RCV002463875 RCV002466326 RCV002468713 RCV000201943 RCV000234849 RCV002500957 RCV000417089 RCV000454498 RCV002063860 RCV003225952 RCV000995773 RCV001004743 RCV001089902 RCV005243497 RCV001261518 RCV001283749 RCV001293028
Epilepsy, childhood absence 4	Likely pathogenic; Pathogenic	rs2113307162, rs587777307, rs2113380903, rs2113446665, rs2113464798, rs2113293570, rs2113446442, rs796052491, rs2532280566, rs2532295501, rs2532292255, rs2532261654, rs727503940, rs886039373, rs2532239421 View all (11 more)	RCV001376940 RCV002514572 RCV002004390 RCV001928544 RCV002051050 RCV002014007 RCV002029482 RCV003060019 RCV002825122 RCV002889410 RCV002857149 RCV003032298 RCV000817598 RCV000525742 RCV003785591 RCV003781039 RCV003808067 RCV003807397 RCV003766707 RCV000688675 RCV001869391 RCV001064692 RCV001058754 RCV001048463 RCV001222313 RCV001236606
Epilepsy, idiopathic generalized, susceptibility to, 13	Likely pathogenic; Pathogenic	rs2113307162, rs587777307, rs2113380903, rs2113446665, rs2113464798, rs2113293570, rs2113446442, rs2113389254, rs2532204989, rs1264701196, rs796052491, rs2532280566, rs2532295501, rs2532292255, rs2532261654 View all (15 more)	RCV001376940 RCV002514572 RCV002004390 RCV001928544 RCV002051050 RCV002014007 RCV002029482 RCV002250002 RCV002466325 RCV002466327 RCV003060019 RCV002825122 RCV002889410 RCV002857149 RCV003032298 RCV000817598 RCV000525742 RCV003315153 RCV003785591 RCV003781039 RCV003808067 RCV003807397 RCV003766707 RCV000688675 RCV001869391 RCV001064692 RCV001058754 RCV001048463 RCV001222313 RCV001236606
Epileptic encephalopathy	Likely pathogenic	rs1429197938	RCV003484999
Idiopathic generalized epilepsy	Likely pathogenic; Pathogenic	rs2113307162, rs587777307, rs2113380903, rs2113446665, rs2113464798, rs2113293570, rs2113446442, rs796052491, rs2532280566, rs2532295501, rs2532292255, rs2532261654, rs727503940, rs886039373, rs2532239421 View all (11 more)	RCV001376940 RCV002514572 RCV002004390 RCV001928544 RCV002051050 RCV002014007 RCV002029482 RCV003060019 RCV002825122 RCV002889410 RCV002857149 RCV003032298 RCV000817598 RCV000525742 RCV003785591 RCV003781039 RCV003808067 RCV003807397 RCV003766707 RCV000688675 RCV001869391 RCV001064692 RCV001058754 RCV001048463 RCV001222313 RCV001236606
Intellectual disability	Likely pathogenic	rs1173578471, rs1755334003	RCV001260771 RCV001260770
Intractable seizure	Likely pathogenic; Pathogenic	rs727503940	RCV000678794
Juvenile myoclonic epilepsy	Likely pathogenic	rs796052488, rs1581220163	RCV000987626 RCV000987627

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Epilepsy	Conflicting classifications of pathogenicity	rs587777308	RCV004798780
GABRA1-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs190024862, rs200750234, rs41308303, rs1323709924, rs113886269, rs375475234, rs2532280428, rs2532261788, rs3214859, rs1755409878, rs1312078830	RCV004730878 RCV003925239 RCV003925240 RCV003951117 RCV003927638 RCV003982936 RCV003391540 RCV003896542 RCV003926798 RCV003398950 RCV004698858
Marfanoid habitus and intellectual disability	Uncertain significance	rs775157869	RCV000850482
Neurodevelopmental abnormality	Likely benign	rs1755416622	RCV001264659
Seizure	Uncertain significance	rs1561571575	RCV000767857
Sensorineural hearing loss disorder	Uncertain significance	rs1561571575	RCV000767857

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	37434477
Autistic Disorder	Associate	18821008, 25124326
Brain Diseases	Associate	26918889, 31056671, 31568673, 31707987, 32047208
Carcinogenesis	Associate	11454992
Chromosome Aberrations	Associate	20551311
Developmental Disabilities	Associate	37088138
Disease Resistance	Associate	20356767
Drug Resistant Epilepsy	Associate	24613745
Early Onset Glaucoma	Associate	40180227
Epilepsies Myoclonic	Associate	24623842, 26918889
Epilepsies Partial	Associate	37434477
Epilepsy	Associate	20356767, 20551311, 27245092, 28837158, 29056246, 30185235, 30977854, 31568673, 31653223, 32047208, 34740144, 37434477, 40180227
Epilepsy Absence	Associate	26918889, 31568673
Epilepsy Benign Neonatal	Associate	26918889
Epilepsy Generalized	Associate	31568673
Epilepsy Idiopathic Generalized	Associate	26918889, 34740144
Epileptic Syndromes	Associate	32047208
Eyelid Diseases	Associate	38088023
Glioma	Associate	34001135
Infantile Epileptic Dyskinetic Encephalopathy	Associate	26918889
Myoclonic Epilepsy Juvenile	Associate	15201329, 20551311, 26918889
Neoplasms	Associate	11454992, 35485764
Neoplasms Second Primary	Associate	31568673
Nervous System Diseases	Associate	25124326
Neurodegenerative Diseases	Associate	28837158
Schizophrenia	Associate	29032150
Seizures	Associate	20356767, 23782156, 27245092, 31568673, 31618474, 32047208
Seizures	Inhibit	37814294
Spasms Infantile	Associate	26918889, 28864462
Status Epilepticus	Associate	24613745
Urinary Bladder Diseases	Associate	11454992

GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1)