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Aliases for GABBR1 Gene

Aliases for GABBR1 Gene

  • Gamma-Aminobutyric Acid (GABA) B Receptor, 1 2 3
  • GABA-BR1 3 4
  • GABABR1 3 4
  • GPRC3A 3 4
  • GB1 3 4
  • Gamma-Aminobutyric Acid Type B Receptor Subunit 1 3
  • Seven Transmembrane Helix Receptor 3
  • GABAB, Subunit 1c 3
  • GABA-B Receptor 1 4
  • GABA-B Receptor 2
  • DJ271M21.1.1 3
  • DJ271M21.1.2 3
  • GABA-B-R1 4
  • GABBR1-3 3

External Ids for GABBR1 Gene

Summaries for GABBR1 Gene

Entrez Gene Summary for GABBR1 Gene

  • Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jun 2009]

GeneCards Summary for GABBR1 Gene

GABBR1 (Gamma-Aminobutyric Acid (GABA) B Receptor, 1) is a Protein Coding gene. Diseases associated with GABBR1 include persistent vegetative state and withdrawal disorder. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include G-protein coupled GABA receptor activity. An important paralog of this gene is GPR156.

UniProtKB/Swiss-Prot for GABBR1 Gene

  • Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Calcium is required for high affinity binding to GABA. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked by phaclofen

  • Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2 binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites

Tocris Summary for GABBR1 Gene

  • GABAB receptors are metabotropic G-protein-coupled receptors responsible for mediating the inhibitory effects of GABA alongside ionotropic GABAA and GABAC receptors. They exist as heterodimers of GABAB1 and GABAB2 subunits and the presence of both subunits is required for receptor function. When GABAB1 is expressed alone it is non-functional and is not transported to the cell membrane. The GABAB1 subunit is responsible for binding GABA while the GABAB2 subunit interacts with the G protein. The two subunits interact allosterically, GABA increases coupling of GABAB2 to G proteins and GABAB2 increases agonist binding to GABAB1. GABAB receptors are coupled to Ca2+ and K+ channels.

Gene Wiki entry for GABBR1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABBR1 Gene

Genomics for GABBR1 Gene

Genomic Location for GABBR1 Gene

Start:
29,555,629 bp from pter
End:
29,633,976 bp from pter
Size:
78,348 bases
Orientation:
Minus strand

Genomic View for GABBR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for GABBR1 Gene

Transcription factor binding sites by QIAGEN in the GABBR1 gene promoter:

Proteins for GABBR1 Gene

  • Protein details for GABBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBS5-GABR1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid type B receptor subunit 1
    Protein Accession:
    Q9UBS5
    Secondary Accessions:
    • B0UXY7
    • O95375
    • O95468
    • O95975
    • O96022
    • Q5STL4
    • Q5SUJ8
    • Q5SUL3
    • Q71SG6
    • Q86W60
    • Q9UQQ0

    Protein attributes for GABBR1 Gene

    Size:
    961 amino acids
    Molecular mass:
    108320 Da
    Quaternary structure:
    • Heterodimer of GABBR1 and GABBR2. Homodimers may form, but are inactive. Isoform 1E (without C-terminal intracellular domain) is unable to dimerize via a coiled-coil interaction with GABBR2. Interacts with the leucine zipper of the C-terminal bZIP domain of ATF4 via its C-terminal region. Interacts with JAKMIP1.

    Three dimensional structures from OCA and Proteopedia for GABBR1 Gene

    Alternative splice isoforms for GABBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABBR1 Gene

Proteomics data for GABBR1 Gene at MOPED

Post-translational modifications for GABBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn24, Asn84, Asn409, Asn440, Asn482, Asn502, and Asn514

No data available for DME Specific Peptides for GABBR1 Gene

Domains for GABBR1 Gene

Gene Families for GABBR1 Gene

HGNC:
  • GABR :GABA receptors
  • GABBR :GPCR / Class C : GABA(B) receptors
IUPHAR :

UniProtKB/Swiss-Prot:

GABR1_HUMAN
Domain:
  • Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric interaction with GABBR2. The linker region between the transmembrane domain 3 (TM3) and the transmembrane domain 4 (TM4) probably plays a role in the specificity for G-protein coupling:
    • Q9UBS5
  • Contains 2 Sushi (CCP/SCR) domains.:
    • Q9UBS5
Family:
  • Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.:
    • Q9UBS5
genes like me logo Genes that share domains with GABBR1: view

Function for GABBR1 Gene

Molecular function for GABBR1 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA),B receptor 1a,metabotropic expressed in fetal brain,G protein coupled receptor superfamily,heterodimerizing with GABBR2 for formation of a functional receptor,producing slow prolonged inhibitory signals,with isoforms (splice variants) expressed in various peripheral tissues
UniProtKB/Swiss-Prot Function: Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-dependent calcium-channels and modulates inositol phospholipid hydrolysis. Calcium is required for high affinity binding to GABA. Plays a critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA receptor inhibits neurotransmitter release by down-regulating high-voltage activated calcium channels, whereas postsynaptic GABA receptor decreases neuronal excitability by activating a prominent inwardly rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials. Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked by phaclofen
UniProtKB/Swiss-Prot Function: Isoform 1E may regulate the formation of functional GABBR1/GABBR2 heterodimers by competing for GABBR2 binding. This could explain the observation that certain small molecule ligands exhibit differential affinity for central versus peripheral sites

Gene Ontology (GO) - Molecular Function for GABBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0004965 contributes_to G-protein coupled GABA receptor activity IDA 9872316
GO:0005515 protein binding IPI 16724110
genes like me logo Genes that share ontologies with GABBR1: view
genes like me logo Genes that share phenotypes with GABBR1: view

Animal Models for GABBR1 Gene

MGI Knock Outs for GABBR1:

miRNA for GABBR1 Gene

miRTarBase miRNAs that target GABBR1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GABBR1 Gene

Localization for GABBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABBR1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Colocalizes with ATF4 in hippocampal neuron dendritic membranes (By similarity). Coexpression of GABBR1 and GABBR2 is required for GABBR1 maturation and transport to the plasma membrane. {ECO:0000250}.
Isoform 1E: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GABBR1 Gene COMPARTMENTS Subcellular localization image for GABBR1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GABBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9872316
GO:0016020 membrane --
genes like me logo Genes that share ontologies with GABBR1: view

Pathways for GABBR1 Gene

genes like me logo Genes that share pathways with GABBR1: view

Pathways by source for GABBR1 Gene

Gene Ontology (GO) - Biological Process for GABBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IDA 10328880
GO:0007194 negative regulation of adenylate cyclase activity TAS 9069281
GO:0007214 gamma-aminobutyric acid signaling pathway IDA 9872316
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with GABBR1: view

Compounds for GABBR1 Gene

(5) Tocris Compounds for GABBR1 Gene

Compound Action Cas Number
CGP 35348 Brain penetrant, selective GABAB antagonist [123690-79-9]
CGP 52432 Potent, selective GABAB antagonist [139667-74-6]
CGP 54626 hydrochloride Potent, selective GABAB antagonist [149184-21-4]
CGP 55845 hydrochloride Potent, selective GABAB antagonist [149184-22-5]
SCH 50911 Selective, competitive, orally active GABAB antagonist [160415-07-6]

(3) HMDB Compounds for GABBR1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2
Potassium
  • K+
7440-09-7

(3) Drugbank Compounds for GABBR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Baclofen
1134-47-0 target agonist
Progabide
  • Halogabide
62666-20-0 target agonist
Vigabatrin
  • gamma-Vinyl GABA
60643-86-9 target agonist

(1) IUPHAR Ligand for GABBR1 Gene

Ligand Type Action Affinity Pubmed IDs
CGP 47656 Agonist Full agonist 5

(69) Novoseek inferred chemical compound relationships for GABBR1 Gene

Compound -log(P) Hits PubMed IDs
baclofen 94.6 114
2-hydroxysaclofen 91.8 12
gaba 90.4 154
phaclofen 89.9 19
cgp 35348 88.7 4
genes like me logo Genes that share compounds with GABBR1: view

Transcripts for GABBR1 Gene

Unigene Clusters for GABBR1 Gene

Gamma-aminobutyric acid (GABA) B receptor, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABBR1 Gene

No ASD Table

Relevant External Links for GABBR1 Gene

GeneLoc Exon Structure for
GABBR1
ECgene alternative splicing isoforms for
GABBR1

Expression for GABBR1 Gene

mRNA expression in normal human tissues for GABBR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for GABBR1 Gene

SOURCE GeneReport for Unigene cluster for GABBR1 Gene Hs.167017

mRNA Expression by UniProt/SwissProt for GABBR1 Gene

Q9UBS5-GABR1_HUMAN
Tissue specificity: Highly expressed in brain and weakly in heart, small intestine and uterus. Isoform 1A is mostly expressed in granular cell and molecular layer. Isoform 1B is mostly expressed in Purkinje cells. Isoform 1E is predominantly expressed in peripheral tissues as kidney, lung, trachea, colon, small intestine, stomach, bone marrow, thymus and mammary gland.
genes like me logo Genes that share expressions with GABBR1: view

Orthologs for GABBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABBR1 36
  • 95.89 (n)
  • 95.19 (a)
cow
(Bos Taurus)
Mammalia GABBR1 36
  • 93.41 (n)
  • 99.38 (a)
GABBR1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABBR1 36
  • 90.49 (n)
  • 97.98 (a)
GABBR1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabbr1 36
  • 91.39 (n)
  • 98.75 (a)
Gabbr1 16
Gabbr1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABBR1 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABBR1 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabbr1 36
  • 91.56 (n)
  • 98.75 (a)
lizard
(Anolis carolinensis)
Reptilia GABBR1 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabbr1 36
  • 72.52 (n)
  • 83.24 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
gabbr1a 36
  • 69.84 (n)
  • 75.53 (a)
gabbr1a 37
  • 69 (a)
OneToMany
gabbr1b 37
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGBB1 36
  • 53.07 (n)
  • 51.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta GABA-B-R1 36
  • 55.85 (n)
  • 51.28 (a)
GABA-B-R1 37
  • 43 (a)
OneToOne
GABA-B-R3 38
  • 29 (a)
GABA-B-R1 38
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea gbb-1 36
  • 52.49 (n)
  • 46.87 (a)
gbb-1 37
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToOne
Species with no ortholog for GABBR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABBR1 Gene

ENSEMBL:
Gene Tree for GABBR1 (if available)
TreeFam:
Gene Tree for GABBR1 (if available)

Paralogs for GABBR1 Gene

Paralogs for GABBR1 Gene

Selected SIMAP similar genes for GABBR1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with GABBR1: view

Variants for GABBR1 Gene

Sequence variations from dbSNP and Humsavar for GABBR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs25629 -- 29,621,624(+) ACAGA(-/GA)CATCC intron-variant
rs29219 -- 29,631,100(+) TTTGT(C/G)ATCAT intron-variant
rs29220 -- 29,621,889(-) AAGCT(C/G)TGAAG intron-variant
rs29221 -- 29,621,347(-) GATAA(C/G)ACAAA intron-variant
rs29222 -- 29,623,175(-) GTGGA(G/T)TAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABBR1 Gene

Variant ID Type Subtype PubMed ID
dgv1908e1 CNV Complex 17122850
essv18215 CNV CNV 17122850
nsv462671 CNV Loss 19166990
nsv528285 CNV Gain 19592680
nsv526617 CNV Loss 19592680

Relevant External Links for GABBR1 Gene

HapMap Linkage Disequilibrium report
GABBR1
Human Gene Mutation Database (HGMD)
GABBR1

Disorders for GABBR1 Gene

(3) University of Copenhagen DISEASES for GABBR1 Gene

(20) Novoseek inferred disease relationships for GABBR1 Gene

Disease -log(P) Hits PubMed IDs
absence seizures 74.3 22
alcohol withdrawal seizures 52.5 1
epilepsy temporal lobe 48 9
epilepsy, idiopathic generalized 42.3 4
epilepsy 41.4 8

Relevant External Links for GABBR1

Genetic Association Database (GAD)
GABBR1
Human Genome Epidemiology (HuGE) Navigator
GABBR1
genes like me logo Genes that share disorders with GABBR1: view

No data available for UniProtKB/Swiss-Prot for GABBR1 Gene

Publications for GABBR1 Gene

  1. Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. (PMID: 10402495) Sander T. … Riess O. (Am. J. Med. Genet. 1999) 3 4 23
  2. Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. (PMID: 9933300) Peters H.C. … Riess O. (Neurogenetics 1998) 3 4 23
  3. Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels. (PMID: 9844003) Kaupmann K. … Bettler B. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  4. Role of heteromer formation in GABAB receptor function. (PMID: 9872744) Kuner R. … Kornau H.-C. (Science 1999) 3 4 23
  5. Linkage disequilibrium of HLA-A11 and A1 with one of the polymorphisms of the gamma-aminobutyric acid receptor type B. (PMID: 11844143) Anaya M. … Yunis E.J. (Tissue Antigens 2001) 3 23 49

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Sources for GABBR1 Gene

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