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	2550
Gene name	Gamma-aminobutyric acid type B receptor subunit 1
Gene symbol	GABBR1
Synonyms (NCBI Gene)	GABABR1GABBR1-3GB1GPRC3ANEDLC
Chromosome	6
Chromosome location	6p22.1
Summary	This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie bra

121

Show/Hide all (121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017808	hsa-miR-335-5p	Microarray	18185580
MIRT017808	hsa-miR-335-5p	Microarray	18185580
MIRT029420	hsa-miR-26b-5p	Microarray	19088304
MIRT029420	hsa-miR-26b-5p	Microarray	19088304
MIRT440596	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440595	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440596	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727615	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727614	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727613	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727612	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440595	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT1009471	hsa-miR-1270	CLIP-seq
MIRT1009472	hsa-miR-1273f	CLIP-seq
MIRT1009473	hsa-miR-202	CLIP-seq
MIRT1009474	hsa-miR-3177-5p	CLIP-seq
MIRT1009475	hsa-miR-3200-5p	CLIP-seq
MIRT1009476	hsa-miR-4257	CLIP-seq
MIRT1009477	hsa-miR-4276	CLIP-seq
MIRT1009478	hsa-miR-4303	CLIP-seq
MIRT1009479	hsa-miR-4422	CLIP-seq
MIRT1009480	hsa-miR-4468	CLIP-seq
MIRT1009481	hsa-miR-4643	CLIP-seq
MIRT1009482	hsa-miR-466	CLIP-seq
MIRT1009483	hsa-miR-4666-5p	CLIP-seq
MIRT1009484	hsa-miR-4668-5p	CLIP-seq
MIRT1009485	hsa-miR-4681	CLIP-seq
MIRT1009486	hsa-miR-4683	CLIP-seq
MIRT1009487	hsa-miR-4690-3p	CLIP-seq
MIRT1009488	hsa-miR-4712-3p	CLIP-seq
MIRT1009489	hsa-miR-4722-5p	CLIP-seq
MIRT1009490	hsa-miR-4768-3p	CLIP-seq
MIRT1009491	hsa-miR-4789-3p	CLIP-seq
MIRT1009492	hsa-miR-620	CLIP-seq
MIRT1009493	hsa-miR-625	CLIP-seq
MIRT1009494	hsa-miR-1193	CLIP-seq
MIRT1009471	hsa-miR-1270	CLIP-seq
MIRT1009495	hsa-miR-134	CLIP-seq
MIRT1009496	hsa-miR-2278	CLIP-seq
MIRT1009497	hsa-miR-2467-3p	CLIP-seq
MIRT1009498	hsa-miR-3118	CLIP-seq
MIRT1009499	hsa-miR-3136-5p	CLIP-seq
MIRT1009500	hsa-miR-3164	CLIP-seq
MIRT1009474	hsa-miR-3177-5p	CLIP-seq
MIRT1009501	hsa-miR-3185	CLIP-seq
MIRT1009502	hsa-miR-3605-5p	CLIP-seq
MIRT1009503	hsa-miR-3607-5p	CLIP-seq
MIRT1009504	hsa-miR-3691-5p	CLIP-seq
MIRT1009505	hsa-miR-3911	CLIP-seq
MIRT1009477	hsa-miR-4276	CLIP-seq
MIRT1009479	hsa-miR-4422	CLIP-seq
MIRT1009506	hsa-miR-4428	CLIP-seq
MIRT1009507	hsa-miR-4439	CLIP-seq
MIRT1009508	hsa-miR-4455	CLIP-seq
MIRT1009480	hsa-miR-4468	CLIP-seq
MIRT1009509	hsa-miR-4501	CLIP-seq
MIRT1009510	hsa-miR-4513	CLIP-seq
MIRT1009481	hsa-miR-4643	CLIP-seq
MIRT1009482	hsa-miR-466	CLIP-seq
MIRT1009511	hsa-miR-4663	CLIP-seq
MIRT1009484	hsa-miR-4668-5p	CLIP-seq
MIRT1009485	hsa-miR-4681	CLIP-seq
MIRT1009486	hsa-miR-4683	CLIP-seq
MIRT1009489	hsa-miR-4722-5p	CLIP-seq
MIRT1009512	hsa-miR-4724-5p	CLIP-seq
MIRT1009513	hsa-miR-4752	CLIP-seq
MIRT1009514	hsa-miR-4758-3p	CLIP-seq
MIRT1009490	hsa-miR-4768-3p	CLIP-seq
MIRT1009491	hsa-miR-4789-3p	CLIP-seq
MIRT1009492	hsa-miR-620	CLIP-seq
MIRT2232801	hsa-miR-4660	CLIP-seq
MIRT2232802	hsa-miR-646	CLIP-seq
MIRT2232803	hsa-miR-671-5p	CLIP-seq
MIRT1009480	hsa-miR-4468	CLIP-seq
MIRT1009494	hsa-miR-1193	CLIP-seq
MIRT2536414	hsa-miR-1205	CLIP-seq
MIRT2536415	hsa-miR-1276	CLIP-seq
MIRT2536416	hsa-miR-1909	CLIP-seq
MIRT1009497	hsa-miR-2467-3p	CLIP-seq
MIRT2536417	hsa-miR-28-5p	CLIP-seq
MIRT2536418	hsa-miR-3139	CLIP-seq
MIRT2536419	hsa-miR-3147	CLIP-seq
MIRT2536420	hsa-miR-3170	CLIP-seq
MIRT2536421	hsa-miR-342-5p	CLIP-seq
MIRT1009504	hsa-miR-3691-5p	CLIP-seq
MIRT2536422	hsa-miR-3714	CLIP-seq
MIRT1009505	hsa-miR-3911	CLIP-seq
MIRT2536423	hsa-miR-3978	CLIP-seq
MIRT2536424	hsa-miR-4260	CLIP-seq
MIRT2536425	hsa-miR-4425	CLIP-seq
MIRT1009506	hsa-miR-4428	CLIP-seq
MIRT2536426	hsa-miR-4434	CLIP-seq
MIRT1009508	hsa-miR-4455	CLIP-seq
MIRT2536427	hsa-miR-4516	CLIP-seq
MIRT2536428	hsa-miR-4531	CLIP-seq
MIRT2536429	hsa-miR-4645-3p	CLIP-seq
MIRT2536430	hsa-miR-4651	CLIP-seq
MIRT2536431	hsa-miR-4664-5p	CLIP-seq
MIRT1009513	hsa-miR-4752	CLIP-seq
MIRT1009514	hsa-miR-4758-3p	CLIP-seq
MIRT2536432	hsa-miR-548an	CLIP-seq
MIRT2536433	hsa-miR-558	CLIP-seq
MIRT2536434	hsa-miR-608	CLIP-seq
MIRT2536435	hsa-miR-708	CLIP-seq
MIRT2536414	hsa-miR-1205	CLIP-seq
MIRT2536416	hsa-miR-1909	CLIP-seq
MIRT1009497	hsa-miR-2467-3p	CLIP-seq
MIRT2536417	hsa-miR-28-5p	CLIP-seq
MIRT2536418	hsa-miR-3139	CLIP-seq
MIRT2536420	hsa-miR-3170	CLIP-seq
MIRT2536421	hsa-miR-342-5p	CLIP-seq
MIRT2536422	hsa-miR-3714	CLIP-seq
MIRT2536423	hsa-miR-3978	CLIP-seq
MIRT2536424	hsa-miR-4260	CLIP-seq
MIRT1009506	hsa-miR-4428	CLIP-seq
MIRT2536430	hsa-miR-4651	CLIP-seq
MIRT2536431	hsa-miR-4664-5p	CLIP-seq
MIRT2536432	hsa-miR-548an	CLIP-seq
MIRT2536433	hsa-miR-558	CLIP-seq
MIRT2536434	hsa-miR-608	CLIP-seq
MIRT2536435	hsa-miR-708	CLIP-seq

Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	IBA
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	9872316
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	10328880
GO:0004965	Function	G protein-coupled GABA receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	IMP	36103875
GO:0004965	Function	G protein-coupled GABA receptor activity	TAS	9069281
GO:0005515	Function	Protein binding	IPI	16724110, 17474147, 20195357, 24305054, 24658140, 28298427, 32555460, 32580208, 32581365
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	9872316
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9753614
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	987231, 10328880
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	987231, 9872316
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	9069281
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0014048	Process	Regulation of glutamate secretion	IEA
GO:0014049	Process	Positive regulation of glutamate secretion	IEA
GO:0014053	Process	Negative regulation of gamma-aminobutyric acid secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030673	Component	Axolemma	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032811	Process	Negative regulation of epinephrine secretion	IEA
GO:0033602	Process	Negative regulation of dopamine secretion	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0038037	Component	G protein-coupled receptor dimeric complex	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IBA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IPI	9872316
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	987231
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099579	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	IEA
GO:0150047	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	IEA
GO:0150099	Process	Neuron-glial cell signaling	IEA
GO:0150099	Process	Neuron-glial cell signaling	ISS
GO:1902710	Component	GABA receptor complex	IEA
GO:1902712	Component	G protein-coupled GABA receptor complex	IEA
GO:1902712	Component	G protein-coupled GABA receptor complex	IPI	24305054
GO:1990430	Function	Extracellular matrix protein binding	IEA

MIM	HGNC	e!Ensembl
603540	4070	ENSG00000204681

Q9UBS5

Protein name

Gamma-aminobutyric acid type B receptor subunit 1 (GABA-B receptor 1) (GABA-B-R1) (GABA-BR1) (GABABR1) (Gb1)

Protein function

Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:36103875, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA re

PDB

4MQE , 4MQF , 4MR7 , 4MR8 , 4MR9 , 4MRM , 4MS1 , 4MS3 , 4MS4 , 4PAS , 6HKC , 6UO8 , 6UO9 , 6UOA , 6VJM , 6W2X , 6W2Y , 6WIV , 7C7Q , 7C7S , 7CA3 , 7CA5 , 7CUM , 7EB2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	101 → 157	Sushi repeat (SCR repeat)	Domain
PF01094	ANF_receptor	187 → 546	Receptor family ligand binding region	Family
PF00003	7tm_3	603 → 859	7 transmembrane sweet-taste receptor of 3 GCPR	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain (PubMed:9753614, PubMed:9844003, PubMed:9872744). Weakly expressed in heart, small intestine and uterus. Isoform 1A: Mainly expressed in granular cell and molecular layer (PubMed:9844003). Isoform 1B: Mainly e

Sequence

MLLLLLLAPLFLRPPGAGGAQTPNATSEGCQIIHPPWEGGIRYRGLTRDQVKAINFLPVD
YEIEYVCRGEREVVGPKVRKCLANGSWTDMDTPSRCVRICSKSYLTLENGKVFLTGGDLP
ALDGARVDFRCDPDFHLVGSSRSICSQGQWSTPKPHCQVNRTPHSERRAVYIGALFPMSG
GWPGGQACQPAVEMALEDVNSRRDILPDYELKLIHHDSKCDPGQATKYLYELLYNDPIKI
ILMPGCSSVSTLVAEAARMWNLIVLSYGSSSPALSNRQRFPTFFRTHPSATLHNPTRVKL
FEKWGWKKIATIQQTTEVFTSTLDDLEERVKEAGIEITFRQSFFSDPAVPVKNLKRQDAR
IIVGLFYETEARKVFCEVYKERLFGKKYVWFLIGWYADNWFKIYDPSINCTVDEMTEAVE
GHITTEIVMLNPANTRSISNMTSQEFVEKLTKRLKRHPEETGGFQEAPLAYDAIWALALA
LNKTSGGGGRSGVRLEDFNYNNQTITDQIYRAMNSSSFEGVSGHVVFDASGSRMAWTLIE
QLQGGSYKKIGYYDSTKDDLSWSKTDKWIGGSPPADQTLVIKTFRFLSQKLFISVSVLSS
LGIVLAVVCLSFNIYNSHVRYIQNSQPNLNNLTAVGCSLALAAVFPLGLDGYHIGRNQFP
FVCQARLWLLGLGFSLGYGSMFTKIWWVHTVFTKKEEKKEWRKTLEPWKLYATVGLLVGM
DVLTLAIWQIVDPLHRTIETFAKEEPKEDIDVSILPQLEHCSSRKMNTWLGIFYGYKGLL
LLLGIFLAYETKSVSTEKINDHRAVGMAIYNVAVLCLITAPVTMILSSQQDAAFAFASLA
IVFSSYITLVVLFVPKMRRLITRGEWQSEAQDTMKTGSSTNNNEEEKSRLLEKENRELEK
IIAEKEERVSELRHQLQSRQQLRSRRHPPTPPEPSGGLPRGPPEPPDRLSCDGSRVHLLY
K

Sequence length

961

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse Taste transduction Estrogen signaling pathway GnRH secretion Morphine addiction		Activation of G protein gated Potassium channels G alpha (i) signalling events Class C/3 (Metabotropic glutamate/pheromone receptors) GABA B receptor activation Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atypical behavior	Likely pathogenic	rs2483298866	RCV002468885
Delayed speech and language development	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV002468885 RCV002468890 RCV002468891 RCV002468892
Global developmental delay	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV002468885 RCV002468890 RCV002468891 RCV002468892
Intellectual disability	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV002468885 RCV002468890 RCV002468891 RCV002468892
Motor delay	Likely pathogenic	rs2483298866	RCV002468885
Neurodevelopmental disorder with language delay and variable cognitive abnormalities	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV003327569 RCV003327570 RCV003327571 RCV003327572
Neurofibromatosis, type 1	Likely pathogenic	rs2483339912	RCV003228788

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GABBR1-associated neurodevelopmental disorder	Uncertain significance	rs2482835205	RCV003322736

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	28467444
Alcoholism	Associate	26727527
Anxiety	Associate	29026448
Aphasia	Associate	28087732
Attention Deficit Disorder with Hyperactivity	Associate	36103875
Autism Spectrum Disorder	Associate	29028941
Autistic Disorder	Associate	19002745, 36103875
Bipolar Disorder	Inhibit	21303731, 24022508
Carcinogenesis	Associate	19664746
Celiac Disease	Associate	31554915
Chemical and Drug Induced Liver Injury	Associate	27367049
Cognition Disorders	Associate	19002745
Colorectal Neoplasms	Associate	27230463
Colorectal Neoplasms	Inhibit	34131398
COVID 19	Inhibit	35279013
Cytomegalovirus Infections	Stimulate	20025986
Cytomegalovirus Infections	Associate	23841715, 30810104, 31438890
Death	Associate	9292549
Depressive Disorder Major	Inhibit	21303731, 24022508
Developmental Disabilities	Associate	28087732
Epilepsy	Associate	36103875
Epilepsy Familial Mesial Temporal Lobe	Associate	18255321
Epilepsy Temporal Lobe	Associate	15799783, 16278087, 16499773, 18255321
Epileptic Encephalopathy Early Infantile 3	Associate	31957018
Gaucher Disease	Associate	39596090
Glomerulonephritis IGA	Associate	33462083
Hypersensitivity Delayed	Associate	36103875
Idiopathic Pulmonary Fibrosis	Associate	22761659
Infections	Associate	30810104
Intellectual Disability	Associate	36103875
Language Development Disorders	Associate	36103875
Learning Disabilities	Associate	36103875
Leukoencephalopathies	Associate	16776375
Muscle Hypotonia	Associate	36103875
Nasopharyngeal Carcinoma	Associate	19664746, 21283797, 23209447, 25180181
Nasopharyngeal Carcinoma	Inhibit	21283797
Neoplasms	Inhibit	21283797, 34131398
Niemann Pick Disease Type C	Stimulate	22880099
Oculodentodigital Dysplasia	Associate	36103875
Overweight	Associate	27509181
Prostatic Neoplasms	Associate	23773523, 29980692
Schizophrenia	Inhibit	21303731, 24022508
Sleep Apnea Obstructive	Associate	27509181, 32711518
Sleep Wake Disorders	Associate	36103875
Squamous Cell Carcinoma of Head and Neck	Associate	25242135
Substance Related Disorders	Associate	26727527

GABBR1 (gamma-aminobutyric acid type B receptor subunit 1)