| Tclin | Gamma-aminobutyric acid type B receptor subunit 1 |
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.
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]
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]
Comments
| Disease | Target Count |
|---|---|
| Alcoholic Intoxication, Chronic | 41 |
| Autistic Disorder | 320 |
| Cocaine-Related Disorders | 88 |
| Hyperactive behavior | 31 |
| Disease | Target Count |
|---|---|
| Cataplexy and narcolepsy | 3 |
| Muscle Spasticity of Cerebral Origin | 8 |
| Muscle spasticity of spinal origin | 8 |
| Narcolepsy | 69 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group A ependymoma | 1511 | 2.81891058722558E-18 |
| atypical teratoid/rhabdoid tumor | 1095 | 2.10990712899666E-9 |
| medulloblastoma, large-cell | 6234 | 9.49150452637952E-8 |
| tuberculosis | 1563 | 2.54884135713968E-7 |
| adult high grade glioma | 2148 | 7.73560032651542E-7 |
| pilocytic astrocytoma | 3086 | 2.6849057388736E-6 |
| group 3 medulloblastoma | 2254 | 1.97762871038638E-5 |
| osteosarcoma | 7933 | 2.14290491855708E-5 |
| lung cancer | 4473 | 2.48676634192273E-5 |
| psoriasis | 6685 | 8.35541442423569E-5 |
| glioblastoma | 5572 | 2.43982004390721E-4 |
| Pick disease | 1893 | 6.20866999558827E-4 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 7.37297554660292E-4 |
| primitive neuroectodermal tumor | 3031 | 9.22491428873472E-4 |
| Waldenstrons macroglobulinemia | 765 | 0.00599574845831156 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 0.0078736319063083 |
| subependymal giant cell astrocytoma | 2287 | 0.0140311219445883 |
| Disease | log2 FC | p |
|---|---|---|
| Waldenstrons macroglobulinemia | -1.031 | 0.006 |
| psoriasis | -2.700 | 0.000 |
| glioblastoma | -2.300 | 0.000 |
| osteosarcoma | -2.535 | 0.000 |
| posterior fossa group A ependymoma | -2.800 | 0.000 |
| group 3 medulloblastoma | -3.500 | 0.000 |
| atypical teratoid/rhabdoid tumor | -3.200 | 0.000 |
| medulloblastoma, large-cell | -3.700 | 0.000 |
| primitive neuroectodermal tumor | -1.500 | 0.001 |
| tuberculosis | 2.000 | 0.000 |
| intraductal papillary-mucinous carcinoma... | -1.100 | 0.001 |
| intraductal papillary-mucinous neoplasm ... | -1.100 | 0.008 |
| lung cancer | -2.100 | 0.000 |
| adult high grade glioma | -2.400 | 0.000 |
| pilocytic astrocytoma | 1.200 | 0.000 |
| subependymal giant cell astrocytoma | -3.477 | 0.014 |
| Pick disease | -1.500 | 0.001 |
| Species | Source |
|---|---|
| Mouse | OMA Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA Inparanoid |
| Cow | OMA Inparanoid |
| Opossum | OMA Inparanoid |
| Anole lizard | OMA Inparanoid |
| Zebrafish | OMA Inparanoid |
| C. elegans | OMA Inparanoid |
| AID | Type | Active / Inconclusive / Inactive | Description |
|---|---|---|---|
| 1788 | other |
0 / 0 / 0 | Discovery of novel allosteric modulators of the M1 muscarinic receptor: Agonist Ancillary Activity |
| 1921 | other |
2 / 0 / 0 | Discovery of a Highly Selective in vitro and in vivo M4 Positive Allosteric Modulator: Ancillary Activity |
| 624355 | other |
0 / 0 / 0 | Late stage results from the probe development efforts to identify dual inhibitors of signal transducer and activator of transcription 3 (STAT3) and nuclear factor NF-kappa-B (NF-kB): Cell-based radioligand binding assay to determine the binding affinities for selected transporters, receptors, and GPCRs |
| 624406 | other |
0 / 0 / 0 | Late stage results from the probe development effort to identify inhibitors of Hepatitis C Virus (HCV) core protein dimerization: Cell-based radioligand binding assay to determine the binding affinities for selected transporters, receptors, and GPCRs |
| 686924 | other |
0 / 0 / 1 | ML347 Eurofin Panel Assay for BMP Inhibitor (Probe Compound) |
| 686925 | other |
0 / 0 / 1 | ML352 Eurofin Panel Assay for Choline Transporter Inhibitor (Probe Compound) |
| 686926 | other |
0 / 0 / 1 | ML354 Eurofin Panel Assay for PAR4 Antagonists Inhibitor (Probe Compound) |
| 686927 | other |
0 / 0 / 1 | ML353 Eurofin Panel Assay for mGlu5 SAM Inhibitor (Probe Compound) |
| 743249 | screening |
1 / 0 / 0 | Development of the First Potent, Selective and CNS penetrant M5 Negative Allosteric Modulator (NAM) |
| 743250 | screening |
1 / 0 / 0 | Discovery and characterization of a small molecule allosteric agonists of mas-related G-Protein coupled receptor X1 ( MrgX1) |
| More... |
| PMID | Text |
|---|---|
| 26817839 | Cell surface ubiquitination precedes endocytosis, after which USP14 acts as an ubiquitin-binding protein that targets the ubiquitinated GABA B receptor to lysosomal degradation and promotes its deubiquitination. |
| 26727527 | Results show that GABBR1 minor genotypes/alleles were protective against risk for alcoholism in 3 ethnically diverse cohorts. |
| 25725285 | GABA(B)R stimulation promotes chemotaxis in RBL cells which is dependent on signaling via PI3-K/Akt, Src kinases and on rearrangement of both microtubules and actin cytoskeleton. |
| 25465316 | the first report of abnormal levels of GABA+ and Glx in mood-related brain regions of women with PMDD, indicating that dysregulation of the amino acid neurotransmitter system may be an important neurobiological mechanism in the pathogenesis of PMDD. |
| 24778228 | The endoplasmic reticulum retention signal of GBR1 is not part of the core coiled-coil structure, suggesting that it is sterically shielded by GBR2 upon heterodimer formation. |
| 24682435 | GABBR1 receptors are expressed in aortic smooth muscle cells and regulate the [Ca(2+)]i via a Gi/o-coupled receptor pathway and a phospholipase C activation pathway. |
| 24209778 | Chronic alcohol altered exon/intron expression and splice junction levels. |
| 24006265 | GABBR1 protein involved in phenylthiourea bitter taste detection. |
| 23391219 | Authors suggest GABBR1, GABA receptor B1, is implicated in schizophrenia based on a Human endogenous retrovirus long terminal repeat (HERV-W LTR) in the regulatory region of GABBR1. |
| 23192081 | Activation of GABA(B) receptors significantly inhibits Akt/GSK-3 signaling in a beta-arrestin-dependent pathway. |
| More... |
MLLLLLLAPLFLRPPGAGGAQTPNATSEGCQIIHPPWEGGIRYRGLTRDQVKAINFLPVDYEIEYVCRGE 1 - 70 REVVGPKVRKCLANGSWTDMDTPSRCVRICSKSYLTLENGKVFLTGGDLPALDGARVDFRCDPDFHLVGS 71 - 140 SRSICSQGQWSTPKPHCQVNRTPHSERRAVYIGALFPMSGGWPGGQACQPAVEMALEDVNSRRDILPDYE 141 - 210 LKLIHHDSKCDPGQATKYLYELLYNDPIKIILMPGCSSVSTLVAEAARMWNLIVLSYGSSSPALSNRQRF 211 - 280 PTFFRTHPSATLHNPTRVKLFEKWGWKKIATIQQTTEVFTSTLDDLEERVKEAGIEITFRQSFFSDPAVP 281 - 350 VKNLKRQDARIIVGLFYETEARKVFCEVYKERLFGKKYVWFLIGWYADNWFKIYDPSINCTVDEMTEAVE 351 - 420 GHITTEIVMLNPANTRSISNMTSQEFVEKLTKRLKRHPEETGGFQEAPLAYDAIWALALALNKTSGGGGR 421 - 490 SGVRLEDFNYNNQTITDQIYRAMNSSSFEGVSGHVVFDASGSRMAWTLIEQLQGGSYKKIGYYDSTKDDL 491 - 560 SWSKTDKWIGGSPPADQTLVIKTFRFLSQKLFISVSVLSSLGIVLAVVCLSFNIYNSHVRYIQNSQPNLN 561 - 630 NLTAVGCSLALAAVFPLGLDGYHIGRNQFPFVCQARLWLLGLGFSLGYGSMFTKIWWVHTVFTKKEEKKE 631 - 700 WRKTLEPWKLYATVGLLVGMDVLTLAIWQIVDPLHRTIETFAKEEPKEDIDVSILPQLEHCSSRKMNTWL 701 - 770 GIFYGYKGLLLLLGIFLAYETKSVSTEKINDHRAVGMAIYNVAVLCLITAPVTMILSSQQDAAFAFASLA 771 - 840 IVFSSYITLVVLFVPKMRRLITRGEWQSEAQDTMKTGSSTNNNEEEKSRLLEKENRELEKIIAEKEERVS 841 - 910 ELRHQLQSRQQLRSRRHPPTPPEPSGGLPRGPPEPPDRLSCDGSRVHLLYK 911 - 961 //
| PMID | Year | Title |
|---|---|---|
| 26817839 | 2016 | Post-endocytotic Deubiquitination and Degradation of the Metabotropic ?-Aminobutyric Acid Receptor by the Ubiquitin-specific Protease 14. |
| 26727527 | 2016 | GABBR1 and SLC6A1, Two Genes Involved in Modulation of GABA Synaptic Transmission, Influence Risk for Alcoholism: Results from Three Ethnically Diverse Populations. |
| 25725285 | 2015 | Cytoskeletal rearrangement and Src and PI-3K-dependent Akt activation control GABA(B)R-mediated chemotaxis. |
| 25465316 | 2015 | Alterations of GABA and glutamate-glutamine levels in premenstrual dysphoric disorder: a 3T proton magnetic resonance spectroscopy study. |
| 24778228 | 2014 | Heterodimeric coiled-coil interactions of human GABAB receptor. |
| 24682435 | 2015 | GABAB receptors are expressed in human aortic smooth muscle cells and regulate the intracellular Ca(2+) concentration. |
| 24658140 | 2014 | The mammalian-membrane two-hybrid assay (MaMTH) for probing membrane-protein interactions in human cells. |
| 24305054 | 2013 | Structural mechanism of ligand activation in human GABA(B) receptor. |
| 24209778 | 2014 | Altered gamma-aminobutyric acid type B receptor subunit 1 splicing in alcoholics. |
| 24006265 | 2013 | A novel human receptor involved in bitter tastant detection identified using Dictyostelium discoideum. |
| More... |
