• Gene id: 2550

Gene Summary

• Gene Symbol: GABBR1   Gene   UCSC   Ensembl
• Aliases: GABABR1, GABBR1-3, GB1, GPRC3A
• Gene name: gamma-aminobutyric acid type B receptor subunit 1
• Alternate names: gamma-aminobutyric acid type B receptor subunit 1, GABA-B receptor, R1 subunit, gamma-aminobutyric acid (GABA) B receptor, 1, seven transmembrane helix receptor,
• Gene location: 6p22.1 (29633182: 29602227)     Exons: 25     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 111680

Protein Summary

• Protein general information: Q9UBS5  
  • Name: Gamma aminobutyric acid type B receptor subunit 1 (GABA B receptor 1) (GABA B R1) (GABA BR1) (GABABR1) (Gb1)
  • Length: 961  
  • Mass: 108320
  • Tissue specificity: Highly expressed in brain (PubMed
• Sequence:

  MLLLLLLAPLFLRPPGAGGAQTPNATSEGCQIIHPPWEGGIRYRGLTRDQVKAINFLPVDYEIEYVCRGEREVVG
  PKVRKCLANGSWTDMDTPSRCVRICSKSYLTLENGKVFLTGGDLPALDGARVDFRCDPDFHLVGSSRSICSQGQW
  STPKPHCQVNRTPHSERRAVYIGALFPMSGGWPGGQACQPAVEMALEDVNSRRDILPDYELKLIHHDSKCDPGQA
  TKYLYELLYNDPIKIILMPGCSSVSTLVAEAARMWNLIVLSYGSSSPALSNRQRFPTFFRTHPSATLHNPTRVKL
  FEKWGWKKIATIQQTTEVFTSTLDDLEERVKEAGIEITFRQSFFSDPAVPVKNLKRQDARIIVGLFYETEARKVF
  CEVYKERLFGKKYVWFLIGWYADNWFKIYDPSINCTVDEMTEAVEGHITTEIVMLNPANTRSISNMTSQEFVEKL
  TKRLKRHPEETGGFQEAPLAYDAIWALALALNKTSGGGGRSGVRLEDFNYNNQTITDQIYRAMNSSSFEGVSGHV
  VFDASGSRMAWTLIEQLQGGSYKKIGYYDSTKDDLSWSKTDKWIGGSPPADQTLVIKTFRFLSQKLFISVSVLSS
  LGIVLAVVCLSFNIYNSHVRYIQNSQPNLNNLTAVGCSLALAAVFPLGLDGYHIGRNQFPFVCQARLWLLGLGFS
  LGYGSMFTKIWWVHTVFTKKEEKKEWRKTLEPWKLYATVGLLVGMDVLTLAIWQIVDPLHRTIETFAKEEPKEDI
  DVSILPQLEHCSSRKMNTWLGIFYGYKGLLLLLGIFLAYETKSVSTEKINDHRAVGMAIYNVAVLCLITAPVTMI
  LSSQQDAAFAFASLAIVFSSYITLVVLFVPKMRRLITRGEWQSEAQDTMKTGSSTNNNEEEKSRLLEKENRELEK
  IIAEKEERVSELRHQLQSRQQLRSRRHPPTPPEPSGGLPRGPPEPPDRLSCDGSRVHLLYK

• Structural information:
  • Protein Domains: (30..9-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (98..15-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302"-)
  • Interpro: IPR001828  IPR002455  IPR017978  IPR028082  IPR035976   IPR000436  
  • Prosite: PS50259 PS50923
  • CDD: cd00033
  • PDB: 4MQE 4MQF 4MR7 4MR8 4MR9 4MRM 4MS1 4MS3 4MS4 4PAS 6HKC
  • PDBsum: 4MQE 4MQF 4MR7 4MR8 4MR9 4MRM 4MS1 4MS3 4MS4 4PAS 6HKC
  • DIP: 38394
  • STRING: ENSP00000366233
• Other Databases: GeneCards:  GABBR1  Malacards:  GABBR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150099	neuron-glial cell signaling	ISS	biological process
GO:0038039	G protein-coupled receptor heterodimeric complex	IBA	cellular component
GO:0004965	G protein-coupled GABA receptor activity	IBA	molecular function
GO:0007214	gamma-aminobutyric acid signaling pathway	IBA	biological process
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0004965	G protein-coupled GABA receptor activity	IDA	molecular function
GO:0004965	G protein-coupled GABA receptor activity	IDA	contributes to
GO:0007214	gamma-aminobutyric acid signaling pathway	IDA	biological process
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0038039	G protein-coupled receptor heterodimeric complex	IPI	cellular component
GO:0004965	G protein-coupled GABA receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0004965	G protein-coupled GABA receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0099579	G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0038037	G protein-coupled receptor dimeric complex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04915	Estrogen signaling pathway
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04742	Taste transduction
hsa04929	GnRH secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881