Property Summary

NCBI Gene PubMed Count 114
PubMed Score 55.72
PubTator Score 97.18

Knowledge Summary

Patent (2,369)

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
ependymoma 2514 1.56365685485068E-23
atypical teratoid / rhabdoid tumor 4369 1.83661721751673E-19
oligodendroglioma 2849 5.5108432253146E-19
pilocytic astrocytoma 3086 5.46529765738311E-12
pediatric high grade glioma 2712 7.88668100352886E-9
glioblastoma 5572 1.37968615301783E-8
medulloblastoma, large-cell 6234 8.76503976842985E-7
primitive neuroectodermal tumor 3031 1.48586633081919E-6
medulloblastoma 1524 1.15469893570889E-5
astrocytic glioma 2241 0.00160718140475003
subependymal giant cell astrocytoma 2287 0.00314355203445283
Parkinson's disease 364 0.0376764401818703
Pick disease 1893 0.0456433833524908
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Juvenile myoclonic epilepsy 17 0.0 5.0
Disease Target Count Z-score Confidence
Alcohol dependence 107 3.408 1.7

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

Synonym

Accession P14867 D3DQK6 Q8N629
Symbols EJM
ECA4
EJM5
EIEE19

Gene

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid

  TechDev Info (2)

Jing-Ruey Yeh gRNA validated for zebrafish model
Susumu Tomita Biochemical interactoin

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...