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

2008-05-01  

Identity

HGNC
GABBR1
LOCATION
6p22.1
LOCUSID
2550
ALIAS
GABABR1,GABBR1-3,GB1,GPRC3A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2550
MIM: 603540
HGNC: 4070
Ensembl: ENSG00000204681

Variants:

dbSNP: 2550
ClinVar: 2550
TCGA: ENSG00000204681
COSMIC: GABBR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204681ENST00000355973Q9UBS5
ENSG00000204681ENST00000355973Q5SUJ9
ENSG00000204681ENST00000376977Q9UBS5
ENSG00000204681ENST00000377012Q9UBS5
ENSG00000204681ENST00000377012Q5SUJ9
ENSG00000204681ENST00000377016Q9UBS5
ENSG00000204681ENST00000377034Q9UBS5
ENSG00000204681ENST00000377034A0A1U9X7R0
ENSG00000204681ENST00000462632C9JZG6
ENSG00000204681ENST00000472823F8WF38
ENSG00000204681ENST00000476670C9J342
ENSG00000204681ENST00000485508F8WAS6
ENSG00000204681ENST00000489385F8WDC0
ENSG00000204681ENST00000491829F8WAV2
ENSG00000204681ENST00000494877Q9UBS5

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Taste transductionKEGGko04742
Neuroactive ligand-receptor interactionKEGGhsa04080
Taste transductionKEGGhsa04742
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunitsREACTOMER-HSA-997272
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
G protein gated Potassium channelsREACTOMER-HSA-1296059
Activation of G protein gated Potassium channelsREACTOMER-HSA-1296041
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class C/3 (Metabotropic glutamate/pheromone receptors)REACTOMER-HSA-420499
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
344485022022Adipose-derived stem cell-derived extracellular vesicles inhibit neuroblastoma growth by regulating GABBR1 activity through LINC00622-mediated transcription factor AR.4
359098132022Phosphonate-Modified Cellulose Nanocrystals Potentiate the Th1 Polarising Capacity of Monocyte-Derived Dendritic Cells via GABA-B Receptor.2
361038752022GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.7
344485022022Adipose-derived stem cell-derived extracellular vesicles inhibit neuroblastoma growth by regulating GABBR1 activity through LINC00622-mediated transcription factor AR.4
359098132022Phosphonate-Modified Cellulose Nanocrystals Potentiate the Th1 Polarising Capacity of Monocyte-Derived Dendritic Cells via GABA-B Receptor.2
361038752022GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.7
328819922021The neurotransmitter receptor Gabbr1 regulates proliferation and function of hematopoietic stem and progenitor cells.18
328819922021The neurotransmitter receptor Gabbr1 regulates proliferation and function of hematopoietic stem and progenitor cells.18
325554602020Structural basis of the activation of a metabotropic GABA receptor.52
325802082020Structures of metabotropic GABA(B) receptor.46
325813652020Structure of human GABA(B) receptor in an inactive state.41
330588782020Structural Basis for Activation of the Heterodimeric GABA(B) Receptor.20
325554602020Structural basis of the activation of a metabotropic GABA receptor.52
325802082020Structures of metabotropic GABA(B) receptor.46
325813652020Structure of human GABA(B) receptor in an inactive state.41

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50108/gabbr1