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

Gene

• Entrez ID: 2550
• Gene name: Gamma-aminobutyric acid type B receptor subunit 1
• Gene symbol: GABBR1
• Synonyms: GABABR1, GABBR1-3, GB1, GPRC3A, NEDLC
• 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IBA	21873635
GO:0004965	Function	G protein-coupled GABA receptor activity	IBA	21873635
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	10328880
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	9872316
GO:0005515	Function	Protein binding	IPI	16724110, 17474147, 20195357, 24658140, 28298427, 32555460
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	9872316
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	10328880
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA	21873635
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	9872316
GO:0030425	Component	Dendrite	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IBA	21873635
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IPI	9872316
GO:0042734	Component	Presynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099579	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	IEA
GO:0150099	Process	Neuron-glial cell signaling	ISS

Other IDs

• MIM: 603540
• HGNC: 4070
• e!Ensembl: ENSG00000204681

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 961

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
GABAergic synapse
Taste transduction
Estrogen signaling pathway
GnRH secretion
Morphine addiction

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	19002745, 16770606
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	19836008
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	22899653, 19654303
Myasthenia gravis	Myasthenia Gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	23055271
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	rs200046052	23209447, 20512145
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	19503088
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17412563, 27922604, 23391219

Unknown
Disease name	Disease term	dbSNP ID	References
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	21971053
Development disorder	Child Development Disorders, Pervasive		30804558
Lupus erythematosus	Lupus Erythematosus, Systemic		24871463
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	29662059, 29942085
Mood disorder	Mood Disorders		29942085
Psoriatic arthritis	Arthritis, Psoriatic		30552173