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	2560
Gene name	Gamma-aminobutyric acid type A receptor subunit beta1
Gene symbol	GABRB1
Synonyms (NCBI Gene)	DEE45EIEE45
Chromosome	4
Chromosome location	4p12
Summary	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 i

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886039817	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886039818	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135401786	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant

174

Show/Hide all (174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT724049	hsa-miR-3140-5p	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT658012	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658011	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT658010	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT638698	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT638697	hsa-miR-1208	HITS-CLIP	23824327
MIRT638696	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT638695	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT638694	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT638693	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT638692	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT638690	hsa-miR-4420	HITS-CLIP	23824327
MIRT638691	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT638689	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT638688	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT615000	hsa-miR-107	HITS-CLIP	23824327
MIRT614999	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT614998	hsa-miR-96-5p	HITS-CLIP	23824327
MIRT614997	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT614996	hsa-miR-1271-5p	HITS-CLIP	23824327
MIRT614995	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614994	hsa-miR-4307	HITS-CLIP	23824327
MIRT614993	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT614992	hsa-miR-7150	HITS-CLIP	23824327
MIRT476522	hsa-miR-4438	HITS-CLIP	23824327
MIRT613011	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT613010	hsa-miR-31-3p	HITS-CLIP	23824327
MIRT613009	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT613008	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT613007	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT497806	hsa-miR-5003-3p	PAR-CLIP	22291592
MIRT497805	hsa-miR-1224-3p	PAR-CLIP	22291592
MIRT497804	hsa-miR-188-3p	PAR-CLIP	22291592
MIRT497803	hsa-miR-1260a	PAR-CLIP	22291592
MIRT497802	hsa-miR-1260b	PAR-CLIP	22291592
MIRT497801	hsa-miR-3156-3p	PAR-CLIP	22291592
MIRT497800	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT497799	hsa-miR-4452	PAR-CLIP	22291592
MIRT497798	hsa-miR-4446-5p	PAR-CLIP	22291592
MIRT476522	hsa-miR-4438	PAR-CLIP	23592263
MIRT476521	hsa-miR-3622a-5p	PAR-CLIP	23592263
MIRT476520	hsa-miR-4269	PAR-CLIP	23592263
MIRT476519	hsa-miR-6715b-5p	PAR-CLIP	23592263
MIRT476518	hsa-miR-4329	PAR-CLIP	23592263
MIRT476517	hsa-miR-873-3p	PAR-CLIP	23592263
MIRT476515	hsa-miR-5095	PAR-CLIP	23592263
MIRT476516	hsa-miR-7151-3p	PAR-CLIP	23592263
MIRT476514	hsa-miR-3672	PAR-CLIP	23592263
MIRT476513	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448807	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT448806	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448805	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT614999	hsa-miR-103a-3p	HITS-CLIP	27418678
MIRT615000	hsa-miR-107	HITS-CLIP	27418678
MIRT614996	hsa-miR-1271-5p	HITS-CLIP	27418678
MIRT614997	hsa-miR-182-5p	HITS-CLIP	27418678
MIRT614993	hsa-miR-885-3p	HITS-CLIP	27418678
MIRT614998	hsa-miR-96-5p	HITS-CLIP	27418678
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT724049	hsa-miR-3140-5p	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT711254	hsa-miR-3646	HITS-CLIP	19536157
MIRT448805	hsa-miR-203a-3p	HITS-CLIP	19536157
MIRT711253	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT711252	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT711251	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT658012	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT658011	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT658010	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT638698	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT638697	hsa-miR-1208	HITS-CLIP	23824327
MIRT638696	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT638695	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT638694	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT638693	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT638692	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT638690	hsa-miR-4420	HITS-CLIP	23824327
MIRT638691	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT638689	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT638688	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT615000	hsa-miR-107	HITS-CLIP	23824327
MIRT614999	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT614998	hsa-miR-96-5p	HITS-CLIP	23824327
MIRT614997	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT614996	hsa-miR-1271-5p	HITS-CLIP	23824327
MIRT614995	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614994	hsa-miR-4307	HITS-CLIP	23824327
MIRT614993	hsa-miR-885-3p	HITS-CLIP	23824327
MIRT614992	hsa-miR-7150	HITS-CLIP	23824327
MIRT476522	hsa-miR-4438	HITS-CLIP	23824327
MIRT613011	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT613010	hsa-miR-31-3p	HITS-CLIP	23824327
MIRT613009	hsa-miR-1251-3p	HITS-CLIP	23824327
MIRT613008	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT613007	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT497806	hsa-miR-5003-3p	PAR-CLIP	22291592
MIRT497805	hsa-miR-1224-3p	PAR-CLIP	22291592
MIRT497804	hsa-miR-188-3p	PAR-CLIP	22291592
MIRT497803	hsa-miR-1260a	PAR-CLIP	22291592
MIRT497802	hsa-miR-1260b	PAR-CLIP	22291592
MIRT497801	hsa-miR-3156-3p	PAR-CLIP	22291592
MIRT497800	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT497799	hsa-miR-4452	PAR-CLIP	22291592
MIRT497798	hsa-miR-4446-5p	PAR-CLIP	22291592
MIRT476522	hsa-miR-4438	PAR-CLIP	23592263
MIRT476521	hsa-miR-3622a-5p	PAR-CLIP	23592263
MIRT476520	hsa-miR-4269	PAR-CLIP	23592263
MIRT476519	hsa-miR-6715b-5p	PAR-CLIP	23592263
MIRT476518	hsa-miR-4329	PAR-CLIP	23592263
MIRT476517	hsa-miR-873-3p	PAR-CLIP	23592263
MIRT476515	hsa-miR-5095	PAR-CLIP	23592263
MIRT476516	hsa-miR-7151-3p	PAR-CLIP	23592263
MIRT476514	hsa-miR-3672	PAR-CLIP	23592263
MIRT476513	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448813	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT448812	hsa-miR-5586-3p	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448811	hsa-miR-4790-3p	PAR-CLIP	22100165
MIRT448810	hsa-miR-3148	PAR-CLIP	22100165
MIRT448809	hsa-miR-6124	PAR-CLIP	22100165
MIRT448808	hsa-miR-411-5p	PAR-CLIP	22100165
MIRT448807	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT448806	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448805	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT755889	hsa-miR-384	Luciferase reporter assayWestern blottingqRT-PCR	35416273
MIRT2232855	hsa-miR-30a	CLIP-seq
MIRT2232856	hsa-miR-30b	CLIP-seq
MIRT2232857	hsa-miR-30c	CLIP-seq
MIRT2232858	hsa-miR-30d	CLIP-seq
MIRT2232859	hsa-miR-30e	CLIP-seq

Show/Hide all (60)

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	IDA	16412217
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005886	Component	Plasma membrane	IDA	26950270
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:0006811	Process	Monoatomic ion transport	ISS
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2465923
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	26950270
GO:0009636	Process	Response to toxic substance	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	2538761, 9039914, 16412217
GO:0022851	Function	GABA-gated chloride ion channel activity	IMP	26950270
GO:0030425	Component	Dendrite	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042698	Process	Ovulation cycle	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050811	Function	GABA receptor binding	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0071420	Process	Cellular response to histamine	IEA
GO:0071420	Process	Cellular response to histamine	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	26950270
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	26950270
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	26950270
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:0150047	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IDA	9039914, 26950270
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
137190	4081	ENSG00000163288

P18505

Protein name

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

Protein function

Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:16412217, PubMed:26950270). GABA-gated chloride channels, also

PDB

9CTV , 9CXB , 9CXD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	37 → 243	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	250 → 469	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPP
VDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPD
TYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIE
SYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLK
RNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKI
PYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQ
VDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDR
HGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH

Sequence length

474

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 45	Pathogenic; Likely pathogenic	rs886039817, rs886039818, rs1135401786, rs1728584859, rs1728474004	RCV000256298 RCV000256350 RCV000496103 RCV001262679 RCV001264781

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GABRB1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs147587936, rs2110051822, rs112142100, rs145050185, rs779124452, rs977009229, rs557614816, rs1243699366, rs41311286, rs115114447, rs80178222, rs74488269, rs147553239	RCV003921054 RCV003401660 RCV003923505 RCV003948887 RCV003916717 RCV003900930 RCV003899050 RCV003904028 RCV003935348 RCV003913258 RCV003918461 RCV003940394 RCV003925782

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agnosia	Associate	38482990
Amnesia	Associate	39334212
Amnesia Anterograde	Associate	39334212
Autistic Disorder	Associate	16770606, 20066485, 25124326
Bipolar Disorder	Associate	19078961, 19567891, 38482990
Brain Diseases	Associate	37518907
Cognition Disorders	Associate	38482990
Epilepsy	Associate	37518907
Epilepsy Idiopathic Generalized	Associate	36842888
Fabry Disease	Associate	40233852
Intellectual Disability	Associate	38482990
Lennox Gastaut Syndrome	Associate	37518907
Myasthenia Gravis	Associate	24719132
Myoclonic Epilepsy Juvenile	Associate	36842888
Neurocognitive Disorders	Associate	38482990
Prostatic Neoplasms	Associate	38482990
Psychotic Disorders	Associate	19567891
Pulmonary Disease Chronic Obstructive	Associate	28416970
Seizures	Associate	16770606, 31618474, 37518907
Status Epilepticus	Associate	37518907

GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)