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Aliases for GABBR1 Gene

Aliases for GABBR1 Gene

  • Gamma-Aminobutyric Acid Type B Receptor Subunit 1 2 3
  • Gamma-Aminobutyric Acid (GABA) B Receptor, 1 2 3 5
  • GABABR1 3 4
  • GPRC3A 3 4
  • GB1 3 4
  • Seven Transmembrane Helix Receptor 3
  • GABA-B Receptor, R1 Subunit 3
  • GABA-B Receptor 1 4
  • GABA-B Receptor 2
  • GABA-B-R1 4
  • GABBR1-3 3
  • GABA-BR1 4

External Ids for GABBR1 Gene

Previous GeneCards Identifiers for GABBR1 Gene

  • GC06M029627
  • GC06M029340
  • GC06M029631
  • GC06M029664

Summaries for GABBR1 Gene

Entrez Gene Summary for GABBR1 Gene

  • 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 brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]

GeneCards Summary for GABBR1 Gene

GABBR1 (Gamma-Aminobutyric Acid Type B Receptor Subunit 1) is a Protein Coding gene. Diseases associated with GABBR1 include Temporal Lobe Epilepsy and Childhood Absence Epilepsy. Among its related pathways are Taste transduction and Inwardly rectifying K+ channels. GO annotations related to this gene include G-protein coupled receptor activity and 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 GABAA-rho receptors. They exist as heterodimers of GABAB1 and GABAB2 subunits, with both required for function.

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

Regulatory Elements for GABBR1 Gene

Enhancers for GABBR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GABBR1 on UCSC Golden Path with GeneCards custom track

Promoters for GABBR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GABBR1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for GABBR1 Gene

Chromosome:
6
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

Genes around GABBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

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

  • Glycosylation at Asn 24, Asn 84, Asn 409, Asn 440, Asn 482, Asn 502, and Asn 514
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GABBR1 (GABBR1)

No data available for DME Specific Peptides for GABBR1 Gene

Domains & Families for GABBR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBS5

UniProtKB/Swiss-Prot:

GABR1_HUMAN :
  • 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.
  • Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.
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.
  • Contains 2 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily.
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.
genes like me logo Genes that share phenotypes with GABBR1: view

Animal Models for GABBR1 Gene

MGI Knock Outs for GABBR1:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 3

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:0005887 integral component of plasma membrane IDA 9872316
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GABBR1: view

Pathways & Interactions for GABBR1 Gene

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

SIGNOR curated interactions for GABBR1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GABBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IDA 9872316
GO:0008285 negative regulation of cell proliferation IEA --
GO:0014053 negative regulation of gamma-aminobutyric acid secretion IEA --
GO:0033602 negative regulation of dopamine secretion IEA --
genes like me logo Genes that share ontologies with GABBR1: view

Drugs & Compounds for GABBR1 Gene

(53) Drugs for GABBR1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Baclofen Approved Pharma agonist, Target 94
Progabide Approved, Investigational Pharma agonist, Target 0
Vigabatrin Approved Pharma Inhibition, Inhibitor, inhibitor, Target, agonist GABA-T inhibitor 19
Gabapentin Approved, Investigational Pharma GABA enhancer 272
Etomidate Approved Pharma General anesthetic with GABA modulatory and GABA-mimetic actions 61

(34) Additional Compounds for GABBR1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
(RS)-Baclofen
1134-47-0
RuBi-GABA
1028141-88-9
SKF 97541
127729-35-5

(5) Tocris Compounds for GABBR1 Gene

Compound Action Cas Number
(R)-Baclofen Selective GABAB agonist. Active enantiomer of (RS)-Baclofen (Cat. No. 0417) 69308-37-8
(RS)-Baclofen Selective GABAB agonist 1134-47-0
GABA Endogenous agonist 56-12-2
RuBi-GABA Caged GABA; excitable by visible wavelength 1028141-88-9
SKF 97541 Extremely potent GABAB agonist 127729-35-5

(9) ApexBio Compounds for GABBR1 Gene

Compound Action Cas Number
(R)-baclofen 69308-37-8
Baicalin 21967-41-9
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Flumazenil Benzodiazepine antagonist 78755-81-4
Gabapentin GABA enhancer 60142-96-3
Ginkgolide A 15291-75-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
Rufinamide 106308-44-5
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:

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for GABBR1 Gene

This gene is overexpressed in Cervix (21.1), Frontal cortex (14.4), Fetal Brain (12.3), Plasma (8.9), and Lung (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with GABBR1: view

Protein tissue co-expression partners for GABBR1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for GABBR1 Gene

Orthologs for GABBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABBR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABBR1 35
  • 93.41 (n)
  • 99.38 (a)
GABBR1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABBR1 35
  • 90.49 (n)
  • 97.98 (a)
GABBR1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabbr1 35
  • 91.39 (n)
  • 98.75 (a)
Gabbr1 16
Gabbr1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABBR1 35
  • 95.89 (n)
  • 95.19 (a)
rat
(Rattus norvegicus)
Mammalia Gabbr1 35
  • 91.56 (n)
  • 98.75 (a)
oppossum
(Monodelphis domestica)
Mammalia GABBR1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABBR1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABBR1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabbr1 35
  • 72.52 (n)
  • 83.24 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
gabbr1a 35
  • 69.84 (n)
  • 75.53 (a)
gabbr1a 36
  • 69 (a)
OneToMany
gabbr1b 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta GABA-B-R1 37
  • 49 (a)
GABA-B-R3 37
  • 29 (a)
GABA-B-R1 35
  • 55.85 (n)
  • 51.28 (a)
GABA-B-R1 36
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGBB1 35
  • 53.07 (n)
  • 51.37 (a)
worm
(Caenorhabditis elegans)
Secernentea gbb-1 35
  • 52.49 (n)
  • 46.87 (a)
gbb-1 36
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(1) 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
rs1805056 - 29,632,327(-) CGGGG(C/T)GCAGA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1805057 - 29,613,344(-) GAGGC(A/G)GCCGT nc-transcript-variant, reference, missense
rs2076489 - 29,608,660(-) CTGTC(C/T)TCCCC intron-variant, nc-transcript-variant, reference, missense
rs1135597 -- 29,632,323(-) GCGCA(G/T)ACCCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1233381 -- 29,616,561(-) attac(A/G)ggtgc 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

Variation tolerance for GABBR1 Gene

Residual Variation Intolerance Score: 6.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.33; 81.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABBR1 Gene

Human Gene Mutation Database (HGMD)
GABBR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABBR1 Gene

Disorders for GABBR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GABBR1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABBR1

Genetic Association Database (GAD)
GABBR1
Human Genome Epidemiology (HuGE) Navigator
GABBR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABBR1
genes like me logo Genes that share disorders with GABBR1: view

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

Publications for GABBR1 Gene

  1. GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. (PMID: 9753614) Grifa A. … Gasparini P. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 67
  2. The action is at the terminal. (PMID: 10545129) Pittman Q.J. (J. Physiol. (Lond.) 1999) 23 25 26
  3. GABAB receptors in addiction and its treatment. (PMID: 20655489) Tyacke R.J. … Nutt D.J. (Adv. Pharmacol. 2010) 25 26
  4. Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3. (PMID: 19664746) Tse K.P. … Shugart Y.Y. (Am. J. Hum. Genet. 2009) 3 23
  5. GABAB receptors as drug targets to treat gastroesophageal reflux disease. (PMID: 19303900) Lehmann A. (Pharmacol. Ther. 2009) 25 26

Products for GABBR1 Gene

Sources for GABBR1 Gene

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