Property Summary

NCBI Gene PubMed Count 123
Grant Count 9
R01 Count 2
Funding $4,881,067
PubMed Score 136.86
PubTator Score 139.16

Knowledge Summary

Patent (1,805)

Expression

Gene RIF (87)

PMID Text
26845851 GLRA1 and GLRB mutations are responsible for abnormal startled reactions in humans. (Review)
26079326 the TM3-4 loop length is critical for glycine receptor alpha1 desensitization and a direct neighborhood of both basic stretches changes receptor properties from non-desensitizing to desensitizing.
25730860 The first X-ray structure of the TMD of the alpha1GlyR solved here using GLIC as a scaffold paves the way for mechanistic investigation and design of allosteric modulators of a human receptor.
25572390 Data indicate that alpha1Q-26'E-containing glycine receptors have longer active periods and lower conductances.
25568133 In GlyRA1 mutants, a portion of them can be transported to the plasma membrane but don't form funtional channels; a possible cause for hyperekplexia.
25356525 Mutations in the GLRA1 were identified in 16 Japanese patients with hyperekplexia.
25079583 in two sisters with hyperekplexia a compound heterozygosis of 2 novel mutations of GLRA1 gene was found - heterozygous for a C-to-G base transition resulting in a phenylalanine to leucine amino acid change in position 235 and for a T-to-C base transition resulting in a cysteine to arginine amino acid change in position 237
24970905 Self-declared ethnicity can predict gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.
24108130 p.E375X truncated subunits are incorporated into functional hGlyRs together with unmutated alpha1 or alpha1 plus beta subunits.
24097980 Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation.
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AA Sequence

MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCN      1 - 70
IFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEIT     71 - 140
TDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGL    141 - 210
TLPQFILKEEKDLRYCTKHYNTGKFTCIEARFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPAR    211 - 280
VGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRR    281 - 350
HHKSPMLNLFQEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRA    351 - 420
KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ                                     421 - 457
//

Text Mined References (128)

PMID Year Title
26845851 2015 [GLYCINE RECEPTOR: MOLECULAR ORGANIZATION AND PATHOLOGY].
26079326 2015 Length of the TM3-4 loop of the glycine receptor modulates receptor desensitization.
25973519 2015 Ethanol Modulation is Quantitatively Determined by the Transmembrane Domain of Human ?1 Glycine Receptors.
25730860 2015 Allosteric and hyperekplexic mutant phenotypes investigated on an ?1 glycine receptor transmembrane structure.
25572390 2015 Correlating structural and energetic changes in glycine receptor activation.
25568133 2015 Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
25445488 2015 Functional reconstitution of glycinergic synapses incorporating defined glycine receptor subunit combinations.
25356525 2015 Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
25079583 2014 Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia.
24970905 2015 Ethnicity can predict GLRA1 genotypes in hyperekplexia.
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