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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2565
Gene name	Gamma-aminobutyric acid type A receptor subunit gamma1
Gene symbol	GABRG1
Synonyms (NCBI Gene)	-
Chromosome	4
Chromosome location	4p12
Summary	The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride ch

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Show/Hide all (200)

miRTarBase ID	miRNA	Experiments	Reference
MIRT545161	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545162	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545160	hsa-miR-654-3p	HITS-CLIP	21572407
MIRT545157	hsa-miR-567	HITS-CLIP	21572407
MIRT545156	hsa-let-7a-3p	HITS-CLIP	21572407
MIRT545155	hsa-let-7b-3p	HITS-CLIP	21572407
MIRT545154	hsa-let-7f-1-3p	HITS-CLIP	21572407
MIRT545153	hsa-miR-98-3p	HITS-CLIP	21572407
MIRT545152	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545151	hsa-let-7f-2-3p	HITS-CLIP	21572407
MIRT545150	hsa-miR-1185-1-3p	HITS-CLIP	21572407
MIRT545149	hsa-miR-1185-2-3p	HITS-CLIP	21572407
MIRT545148	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT545146	hsa-miR-3924	HITS-CLIP	21572407
MIRT545147	hsa-miR-297	HITS-CLIP	21572407
MIRT545161	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545162	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545160	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT545159	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT545158	hsa-miR-4264	PAR-CLIP	21572407
MIRT545157	hsa-miR-567	PAR-CLIP	21572407
MIRT545156	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT545155	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT545154	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT545153	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT545152	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545151	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT545150	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT545149	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT545148	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545146	hsa-miR-3924	PAR-CLIP	21572407
MIRT545147	hsa-miR-297	PAR-CLIP	21572407
MIRT545161	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545162	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545160	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT545159	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT545158	hsa-miR-4264	PAR-CLIP	21572407
MIRT545157	hsa-miR-567	PAR-CLIP	21572407
MIRT545156	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT545155	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT545154	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT545153	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT545152	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545151	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT545150	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT545149	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT545148	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545146	hsa-miR-3924	PAR-CLIP	21572407
MIRT545147	hsa-miR-297	PAR-CLIP	21572407
MIRT545161	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545162	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545160	hsa-miR-654-3p	HITS-CLIP	21572407
MIRT545157	hsa-miR-567	HITS-CLIP	21572407
MIRT545156	hsa-let-7a-3p	HITS-CLIP	21572407
MIRT545155	hsa-let-7b-3p	HITS-CLIP	21572407
MIRT545154	hsa-let-7f-1-3p	HITS-CLIP	21572407
MIRT545153	hsa-miR-98-3p	HITS-CLIP	21572407
MIRT545152	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545151	hsa-let-7f-2-3p	HITS-CLIP	21572407
MIRT545150	hsa-miR-1185-1-3p	HITS-CLIP	21572407
MIRT545149	hsa-miR-1185-2-3p	HITS-CLIP	21572407
MIRT545148	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT545146	hsa-miR-3924	HITS-CLIP	21572407
MIRT545147	hsa-miR-297	HITS-CLIP	21572407
MIRT545161	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545162	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545160	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT545159	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT545158	hsa-miR-4264	PAR-CLIP	21572407
MIRT545157	hsa-miR-567	PAR-CLIP	21572407
MIRT545156	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT545155	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT545154	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT545153	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT545152	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545151	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT545150	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT545149	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT545148	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545146	hsa-miR-3924	PAR-CLIP	21572407
MIRT545147	hsa-miR-297	PAR-CLIP	21572407
MIRT545161	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545162	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545160	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT545159	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT545158	hsa-miR-4264	PAR-CLIP	21572407
MIRT545157	hsa-miR-567	PAR-CLIP	21572407
MIRT545156	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT545155	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT545154	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT545153	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT545152	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545151	hsa-let-7f-2-3p	PAR-CLIP	21572407
MIRT545150	hsa-miR-1185-1-3p	PAR-CLIP	21572407
MIRT545149	hsa-miR-1185-2-3p	PAR-CLIP	21572407
MIRT545148	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT545146	hsa-miR-3924	PAR-CLIP	21572407
MIRT545147	hsa-miR-297	PAR-CLIP	21572407
MIRT1010036	hsa-miR-105	CLIP-seq
MIRT1010037	hsa-miR-106a	CLIP-seq
MIRT1010038	hsa-miR-106b	CLIP-seq
MIRT1010039	hsa-miR-1253	CLIP-seq
MIRT1010040	hsa-miR-1264	CLIP-seq
MIRT1010041	hsa-miR-1267	CLIP-seq
MIRT1010042	hsa-miR-1273e	CLIP-seq
MIRT1010043	hsa-miR-1297	CLIP-seq
MIRT1010044	hsa-miR-17	CLIP-seq
MIRT1010045	hsa-miR-1827	CLIP-seq
MIRT1010046	hsa-miR-20a	CLIP-seq
MIRT1010047	hsa-miR-20b	CLIP-seq
MIRT1010048	hsa-miR-219-2-3p	CLIP-seq
MIRT1010049	hsa-miR-2355-5p	CLIP-seq
MIRT1010050	hsa-miR-23a	CLIP-seq
MIRT1010051	hsa-miR-23b	CLIP-seq
MIRT1010052	hsa-miR-23c	CLIP-seq
MIRT1010053	hsa-miR-2682	CLIP-seq
MIRT1010054	hsa-miR-26a	CLIP-seq
MIRT1010055	hsa-miR-26b	CLIP-seq
MIRT1010056	hsa-miR-2964a-3p	CLIP-seq
MIRT1010057	hsa-miR-302a	CLIP-seq
MIRT1010058	hsa-miR-302b	CLIP-seq
MIRT1010059	hsa-miR-302c	CLIP-seq
MIRT1010060	hsa-miR-302d	CLIP-seq
MIRT1010061	hsa-miR-302e	CLIP-seq
MIRT1010062	hsa-miR-3074-3p	CLIP-seq
MIRT1010063	hsa-miR-3120-3p	CLIP-seq
MIRT1010064	hsa-miR-330-3p	CLIP-seq
MIRT1010065	hsa-miR-338-5p	CLIP-seq
MIRT1010066	hsa-miR-346	CLIP-seq
MIRT1010067	hsa-miR-3591-3p	CLIP-seq
MIRT1010068	hsa-miR-3622b-5p	CLIP-seq
MIRT1010069	hsa-miR-3646	CLIP-seq
MIRT1010070	hsa-miR-372	CLIP-seq
MIRT1010071	hsa-miR-373	CLIP-seq
MIRT1010072	hsa-miR-409-5p	CLIP-seq
MIRT1010073	hsa-miR-4251	CLIP-seq
MIRT1010074	hsa-miR-4267	CLIP-seq
MIRT1010075	hsa-miR-4288	CLIP-seq
MIRT1010076	hsa-miR-4327	CLIP-seq
MIRT1010077	hsa-miR-4465	CLIP-seq
MIRT1010078	hsa-miR-449c	CLIP-seq
MIRT1010079	hsa-miR-451b	CLIP-seq
MIRT1010080	hsa-miR-4642	CLIP-seq
MIRT1010081	hsa-miR-4680-3p	CLIP-seq
MIRT1010082	hsa-miR-4724-5p	CLIP-seq
MIRT1010083	hsa-miR-4727-5p	CLIP-seq
MIRT1010084	hsa-miR-4728-3p	CLIP-seq
MIRT1010085	hsa-miR-4769-3p	CLIP-seq
MIRT1010086	hsa-miR-4777-3p	CLIP-seq
MIRT1010087	hsa-miR-491-3p	CLIP-seq
MIRT1010088	hsa-miR-494	CLIP-seq
MIRT1010089	hsa-miR-519d	CLIP-seq
MIRT1010090	hsa-miR-520a-3p	CLIP-seq
MIRT1010091	hsa-miR-520b	CLIP-seq
MIRT1010092	hsa-miR-520c-3p	CLIP-seq
MIRT1010093	hsa-miR-520d-3p	CLIP-seq
MIRT1010094	hsa-miR-520e	CLIP-seq
MIRT1010095	hsa-miR-520f	CLIP-seq
MIRT1010096	hsa-miR-520g	CLIP-seq
MIRT1010097	hsa-miR-520h	CLIP-seq
MIRT1010098	hsa-miR-539	CLIP-seq
MIRT1010099	hsa-miR-569	CLIP-seq
MIRT1010100	hsa-miR-570	CLIP-seq
MIRT1010101	hsa-miR-586	CLIP-seq
MIRT1010102	hsa-miR-632	CLIP-seq
MIRT1010103	hsa-miR-636	CLIP-seq
MIRT1010104	hsa-miR-653	CLIP-seq
MIRT1010105	hsa-miR-656	CLIP-seq
MIRT1010106	hsa-miR-664	CLIP-seq
MIRT1010107	hsa-miR-93	CLIP-seq
MIRT1999187	hsa-miR-1298	CLIP-seq
MIRT1010050	hsa-miR-23a	CLIP-seq
MIRT1010051	hsa-miR-23b	CLIP-seq
MIRT1010052	hsa-miR-23c	CLIP-seq
MIRT1999188	hsa-miR-3691-3p	CLIP-seq
MIRT1010082	hsa-miR-4724-5p	CLIP-seq
MIRT1999189	hsa-miR-513a-3p	CLIP-seq
MIRT1999187	hsa-miR-1298	CLIP-seq
MIRT2232869	hsa-miR-2681	CLIP-seq
MIRT2232870	hsa-miR-590-3p	CLIP-seq
MIRT2232871	hsa-miR-616	CLIP-seq
MIRT2232872	hsa-miR-890	CLIP-seq
MIRT2232873	hsa-miR-935	CLIP-seq
MIRT1010064	hsa-miR-330-3p	CLIP-seq
MIRT2232869	hsa-miR-2681	CLIP-seq
MIRT2449992	hsa-miR-548a-3p	CLIP-seq
MIRT2449993	hsa-miR-548e	CLIP-seq
MIRT2449994	hsa-miR-548f	CLIP-seq
MIRT2232869	hsa-miR-2681	CLIP-seq
MIRT2449992	hsa-miR-548a-3p	CLIP-seq
MIRT2449993	hsa-miR-548e	CLIP-seq
MIRT2449994	hsa-miR-548f	CLIP-seq
MIRT2232869	hsa-miR-2681	CLIP-seq
MIRT2449992	hsa-miR-548a-3p	CLIP-seq
MIRT2449993	hsa-miR-548e	CLIP-seq
MIRT2449994	hsa-miR-548f	CLIP-seq
MIRT2232869	hsa-miR-2681	CLIP-seq
MIRT2449992	hsa-miR-548a-3p	CLIP-seq
MIRT2449993	hsa-miR-548e	CLIP-seq
MIRT2449994	hsa-miR-548f	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
GO:0004890	Function	GABA-A receptor activity	IEA
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:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
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	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0032590	Component	Dendrite membrane	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050811	Function	GABA receptor binding	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0098794	Component	Postsynapse	IBA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1904862	Process	Inhibitory synapse assembly	IBA

MIM	HGNC	e!Ensembl
137166	4086	ENSG00000163285

Q8N1C3

Protein name

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

Protein function

Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	64 → 270	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	277 → 382	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MGPLKAFLFSPFLLRSQSRGVRLVFLLLTLHLGNCVDKADDEDDEDLTVNKTWVLAPKIH
EGDITQILNSLLQGYDNKLRPDIGVRPTVIETDVYVNSIGPVDPINMEYTIDIIFAQTWF
DSRLKFNSTMKVLMLNSNMVGKIWIPDTFFRNSRKSDAHWITTPNRLLRIWNDGRVLYTL
RLTINAECYLQLHNFPMDEHSCPLEFSSYGYPKNEIEYKWKKPSVEVADPKYWRLYQFAF
VGLRNSTEITHTISGDYVIMTIFFDLSRRMGYFTIQTYIPCILTVVLSWVSFWINKDAVP
ARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFAALMEYGTLHYFTSN
QKGKTATKDRKLKNKASMTPGLHPGSTLIPMNNISVPQEDDYGYQCLEGKDCASFFCCFE
DCRTGSWREGRIHIRIAKIDSYSRIFFPTAFALFNLVYWVGYLYL

Sequence length

465

Interactions

View interactions

	KEGG
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Morphine addiction Nicotine addiction

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	31790348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	21750581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21832240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	16556609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	16556609, 25124326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19909288		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	7730370		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	7730370		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	7730370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35051171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19909288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32233732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GABRG1 (gamma-aminobutyric acid type A receptor subunit gamma1)