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Aliases for GABBR1 Gene

Aliases for GABBR1 Gene

  • Gamma-Aminobutyric Acid Type B Receptor Subunit 1 2 3 5
  • Gamma-Aminobutyric Acid (GABA) B Receptor, 1 2 3
  • 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 Asthenopia and Persistent Vegetative State. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. 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 GABBR2.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F029660 0.7 ENCODE 11.3 -28.5 -28480 3.2 HDGF ARNT SIN3A GLI4 FEZF1 ZNF2 ETS1 GLIS2 KLF7 KLF13 ZFP57 IFITM4P HLA-A HCG4P5 GNL1 GABBR1 SUMO2P1 OR2H2 HLA-K MICD
GH06F029665 0.6 ENCODE 11.1 -33.2 -33170 3.1 HDGF PKNOX1 ZNF76 KLF17 ZBTB40 ZNF335 GLIS2 KLF7 EGR2 SMARCA5 IFITM4P HLA-A GNL1 HCG4P5 ZFP57 HLA-H HLA-J GABBR1 SUMO2P1 OR2H2
GH06F030162 0.9 ENCODE 11.1 -529.8 -529790 2.8 HDGF PKNOX1 ARNT ZFP64 SIN3A ARID4B FEZF1 DMAP1 ZNF2 YY1 HCG18 GTF2H4 PPP1R10 ETF1P1 DHX16 PAIP1P1 HLA-U ZNRD1ASP HCG4P7 TCF19
GH06F030194 0.4 ENCODE 11.1 -561.4 -561352 1.6 ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF302 SP3 SP5 MXD4 ZHX2 HCG18 GTF2H4 PPP1R10 ETF1P1 DHX16 PAIP1P1 ZNRD1ASP HCG4P7 TRIM31 GNL1
GH06F030324 0.5 ENCODE 11.1 -692.5 -692452 3.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 HCG18 RPL23AP1 MICD GABBR1 HLA-E HCG17 GNL1 ZFP57 HLA-G TRIM39
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000487534 976 2001 GLI4 GLIS2 KLF7 KDM4B ZNF263 SP3 SP5 REST ZNF610 SMARCA4

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

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)
  • Cloud-Clone Corp. Antibodies for 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.

Gene Ontology (GO) - Molecular Function for GABBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004965 contributes_to G-protein coupled GABA receptor activity IDA,TAS 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:

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9872316
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:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
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
genes like me logo Genes that share ontologies with GABBR1: view

Drugs & Compounds for GABBR1 Gene

(139) 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 95
Progabide Approved, Investigational Pharma agonist, Target 0
Vigabatrin Approved Pharma Inhibition, Inhibitor, inhibitor, Target, agonist GABA transaminase inhibitor, GABA-T inhibitor 21
Gabapentin Approved, Investigational Pharma GABA enhancer 289
Potassium Approved Pharma 0

(25) Additional Compounds for GABBR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
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

(93) ApexBio Compounds for GABBR1 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide 40709-69-1
(-)-Bicuculline methobromide 73604-30-5
(-)-Bicuculline methochloride 53552-05-9
(±)-Nipecotic acid 60252-41-7
(R)-baclofen 69308-37-8
(R)-Baclofen hydrochloride GABAB receptor agonist 63701-55-3
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
17-PA 694438-95-4
2-Hydroxysaclofen 117354-64-0
3-Methyl-GABA 71424-95-8
Alphaxalone 23930-19-0
Baicalin 21967-41-9
Bretazenil 84379-13-5
CGP 13501 Positive modulator of GABAB receptors,allosteric 56189-68-5
CGP 35348 Selective GABAB antagonist, brain penetrant 123690-79-9
CGP 36216 hydrochloride Selective GABAB antagonist 123691-29-2
CGP 46381 123691-14-5
CGP 52432 139667-74-6
CGP 54626 hydrochloride 149184-21-4
CGP 55845 hydrochloride GABAB receptor antagonist 149184-22-5
CGP 7930 57717-80-3
CGS 20625 111205-55-1
Chlormethiazole hydrochloride 6001-74-7
CI 966 hydrochloride 110283-66-4
CL 218872 66548-69-4
Dihydroergotoxine mesylate 8067-24-1
DMCM hydrochloride 1215833-62-7
DS2 374084-31-8
Etomidate General anesthetic with GABA modulatory and GABA-mimetic actions 33125-97-2
Etomidate hydrochloride 53188-20-8
FG 7142 78538-74-6
FGIN-1-27 142720-24-9
FGIN-1-43 145040-29-5
Flumazenil Benzodiazepine antagonist 78755-81-4
Flunitrazepam 1622-62-4
Gabapentin GABA enhancer 60142-96-3
Ganaxolone 38398-32-2
Ginkgolide A 15291-75-5
GS 39783 39069-52-8
Guvacine hydrochloride 6027-91-4
Hispidulin 1447-88-7
Indiplon 325715-02-4
Isoguvacine hydrochloride 68547-97-7
L-655,708 130477-52-0
L-838,417 286456-42-6
Lorazepam 846-49-1
Loreclezole hydrochloride 117857-45-1
MK 0343 233275-76-8
MRK 016 783331-24-8
N-ArachidonylGABA 128201-89-8
NCS-382 520505-01-5
Nefiracetam 77191-36-7
Niflumic acid Ca2+-activated Cl- channel blocker 4394-00-7
NNC 05-2090 hydrochloride 184845-18-9
NNC 711 145645-62-1
Ocinaplon 96604-21-6
Org 20599 156685-94-8
Pentobarbital sodium salt 57-33-0
Pentylenetetrazole 54-95-5
Phaclofen 114012-12-3
Phenobarbital sodium salt 57-30-7
PHP 501 trifluoroacetate 1236105-75-1
PK 11195 85532-75-8
Pregnanolone 128-20-1
rac BHFF 123557-91-5
Retigabine dihydrochloride Antiepileptic compound 150812-13-8
Ro 15-4513 91917-65-6
Ro 19-4603 99632-94-7
RuBi GABA trimethylphosphine
RuBi-GABA 1028141-88-9
Rufinamide 106308-44-5
Saclofen 125464-42-8
SCH 50911 733717-87-8
SCS 3232-36-8
SKF 89976A hydrochloride 85375-15-1
SKF 97541 127729-35-5
SR 95531 hydrobromide 104104-50-9
TACA 38090-53-8
TB 21007 207306-50-1
TCS 1105 185391-33-7
TCS 1205 355022-97-8
THIP hydrochloride 85118-33-8
TP 003 628690-75-5
TPMPA 182485-36-5
Tracazolate hydrochloride 1135210-68-2
trans-4-Hydroxycrotonic acid 24587-49-3
U 89843A 157013-85-9
U 90042 134516-99-7
U 93631 152273-12-6
Valerenic acid 3569-10-6
ZAPA sulfate 371962-01-5
ZK 93426 hydrochloride 1216792-30-1
β-CCB 84454-35-3
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:

Clone Products

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



Protein tissue co-expression partners for GABBR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABBR1 Gene:

GABBR1

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

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
chimpanzee
(Pan troglodytes)
Mammalia GABBR1 34
  • 95.89 (n)
cow
(Bos Taurus)
Mammalia GABBR1 34 35
  • 93.41 (n)
rat
(Rattus norvegicus)
Mammalia Gabbr1 34
  • 91.56 (n)
mouse
(Mus musculus)
Mammalia Gabbr1 34 16 35
  • 91.39 (n)
dog
(Canis familiaris)
Mammalia GABBR1 34 35
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GABBR1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABBR1 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABBR1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabbr1 34
  • 72.52 (n)
zebrafish
(Danio rerio)
Actinopterygii gabbr1a 34 35
  • 69.84 (n)
gabbr1b 35
  • 68 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta GABA-B-R1 36 34 35
  • 55.85 (n)
GABA-B-R3 36
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRGBB1 34
  • 53.07 (n)
worm
(Caenorhabditis elegans)
Secernentea gbb-1 34 35
  • 52.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
Species where no ortholog for GABBR1 was found in the sources mined by GeneCards:
  • 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
rs10946999 -- 29,603,832(+) TGTAG(G/T)GGGAG intron-variant
rs111334070 -- 29,631,913(+) TCTTT(-/AA)AAAAA intron-variant
rs111467293 -- 29,620,900(+) TTTTT(C/T)TTCTC intron-variant
rs111603715 -- 29,608,810(+) ATACC(-/AC)ACGCA intron-variant
rs111656212 -- 29,620,901(+) TTTTT(C/T)TCTCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1724e212 CNV loss 25503493
esv2759411 CNV gain+loss 17122850
esv3570839 CNV loss 25503493
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1145096 CNV deletion 24896259
nsv462671 CNV loss 19166990
nsv526617 CNV loss 19592680
nsv528285 CNV gain 19592680
nsv601229 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABBR1

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

Disorders for GABBR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
asthenopia
  • accommodative strain
persistent vegetative state
childhood absence epilepsy
  • absence seizure
temporal lobe epilepsy
  • epilepsy, temporal lobe
paralytic squint
  • incomitant dissociation
- 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. 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 22 46 64
  2. GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence. (PMID: 18255321) Kauffman M.A. … Kochen S. (Seizure 2008) 3 22 46 64
  3. Association between the gamma-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial temporal lobe epilepsy in a Han Chinese population. (PMID: 18653317) Wang X. … Liu Y. (Epilepsy Res. 2008) 3 22 46 64
  4. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. (PMID: 15799783) Ma S. … Hedera P. (BMC Med. Genet. 2005) 3 22 46 64
  5. Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia. (PMID: 15820424) Zai G. … Kennedy J.L. (Eur Neuropsychopharmacol 2005) 3 22 46 64

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