Property Summary

NCBI Gene PubMed Count 114
Grant Count 26
R01 Count 15
Funding $3,711,232.26
PubMed Score 55.72
PubTator Score 97.18

Knowledge Summary

Patent (2,369)

TINX Plot

  Disease Relevance (80)

Disease Z-score Confidence
Epilepsy 346 5.052 2.5
Alcohol dependence 107 3.408 1.7
AMYOTROPHIC LATERAL SCLEROSIS 1 49
Absence seizure 12
Alcohol withdrawal delirium 9
Alcohol withdrawal syndrome 9
Alcoholism 14
Anxiety 24
Anxiety associated with Menopause 7
Ataxia 15
Atonic seizure 4
Autistic Disorder 320
Benign intracranial hypertension 3
Benzodiazepine Induced Sedation 8
Benzodiazepine Maintained Anesthesia 8
Benzodiazepine Toxicity 8
Bipolar disorder in remission 19
Carcinoma 2,147 1.0
Cerebral ischemia 12
Conscious sedation 10
Disorders of initiating and maintaining ... 8 
Dysuria 24
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEP... 1 
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBI... 1 
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... 1 
Epilepsy characterized by intractable co... 28 
Epilepsy, Childhood Absence, Susceptibil... 1 
Essential tremor 30
Feeling agitated 7
General anesthesia 53
Generalized anxiety disorder 29
Hepatic encephalopathy 25
Induce Anterograde Amnesia 9
Initial insomnia 8
Insomnia 20
Irritable bowel syndrome 59
Juvenile myoclonic epilepsy 17 5.0
Lennox-Gastaut syndrome 34
Local anesthesia 40
Localization-related epilepsy 13
Migraine Prevention 22
Mixed anxiety and depressive disorder 10
Myoclonic Epilepsy, Juvenile 7
Myoclonic seizure 4
Narcoanalysis 3
Ovarian Cysts 34
Pain with Tension and Anxiety 6
Panic disorder 55
Parkinson's disease 364
Partial Epilepsy Treatment Adjunct 16
Peptic ulcer 22
Pick disease 1,893
Pre-Op Apprehension 10
Preoperative Anxiety 9
Sedation 11
Sedation as Adjunct to Anesthesia 15
Sedation in Intubated Patients 8
Seizure disorder 4
Severe Insomnia 7
Severe anxiety (panic) 7
Simple partial seizure 26
Spasticity 26
Status Epilepticus 85
Tension-type headache 10
Tetanus 66
Tetanus Adjunct Treatment 8
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Urinary Tract Irritation 24
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
ependymoma 2,514
glioblastoma 5,572
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -3.500 0.002
ependymoma -6.100 0.000
oligodendroglioma -3.400 0.000
glioblastoma -6.700 0.000
medulloblastoma -4.900 0.000
atypical teratoid / rhabdoid tumor -7.100 0.000
medulloblastoma, large-cell -5.000 0.000
primitive neuroectodermal tumor -6.200 0.000
Parkinson's disease -1.400 0.038
pediatric high grade glioma -5.600 0.000
pilocytic astrocytoma -5.900 0.000
subependymal giant cell astrocytoma -4.894 0.003
Pick disease -2.100 0.046

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
434974 screening 0 / 0 / 0 Late-stage radioligand binding assay to identify inhibitors of NADPH oxidase 1 (NOX1): PDSP screen

Gene RIF (102)

PMID Text
26945068 This study clarifies a Grp94-mediated ERAD pathway for GABAA receptors, which provides a novel way to finely tune their function in physiological and pathophysiological conditions.
26918889 GABRA1 missense mutations were linked to early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome.
26321868 Both GABAAalpha1 and GABAArho1 mRNAs and proteins were identified in cultured retinal pigment epithelial cells; antibody staining was mainly localized to the cell membrane and was also present in the cytoplasm but not in the nucleus.
26249742 Polymorphism rs4263535 in GABRA1 intron 4 was associated with deeper sedation by intravenous midazolam.
26016529 The role of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors was most prominent in the alpha1 subunit. Deletion reduced the number of functional receptors.
25675822 It is a neurotransmitter and plays a role in chloride ion influx of neurons by binding to GABA-A receptors.
25453062 Tobacco smoking, but not nicotine interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal.
25437558 These results suggest that ARG1 and GABA influence both neural development and neuroblastoma and that benzodiazepines in clinical use may have potential applications for neuroblastoma therapy.
25086038 Propofol, AziPm, and o-PD Inhibit [3H]Azietomidate and R-[3H]mTFD-MPAB Photolabeling of alpha1beta3 GABAAR.
24923912 Putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex.
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AA Sequence

MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKT      1 - 70
DIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMT     71 - 140
MPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAE    141 - 210
DGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVP    211 - 280
ARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVV    281 - 350
PEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID    351 - 420
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ                                      421 - 456
//

Text Mined References (115)

PMID Year Title
26945068 2016 Grp94 Protein Delivers ?-Aminobutyric Acid Type A (GABAA) Receptors to Hrd1 Protein-mediated Endoplasmic Reticulum-associated Degradation.
26918889 2016 De novo GABRA1 mutations in Ohtahara and West syndromes.
26321868 2015 GABAA?1 and GABAA?1 subunits are expressed in cultured human RPE cells and GABAA receptor agents modify the intracellular calcium concentration.
26249742 2015 Polymorphism rs4263535 in GABRA1 intron 4 was related to deeper sedation by intravenous midazolam.
26016529 2015 Assembly, trafficking and function of ?1?2?2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner.
25675822 2014 [Excitatory GABA signaling in epilepsy].
25453062 2014 Tobacco smoking interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal.
25437558 2014 Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma.
25086038 2014 Multiple propofol-binding sites in a ?-aminobutyric acid type A receptor (GABAAR) identified using a photoreactive propofol analog.
24923912 2014 Identification of a novel protein complex containing ASIC1a and GABAA receptors and their interregulation.
More...