Property Summary

NCBI Gene PubMed Count 57
Grant Count 120
R01 Count 87
Funding $15,522,836.28
PubMed Score 370.80
PubTator Score 193.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Synonym

Accession Q9NQX3 Q96KU4 Q9H4E9 Q9P2G2
Symbols GPH
GEPH
HKPX1
GPHRYN
MOCODC

Gene

PDB

1JLJ  

Gene RIF (33)

PMID Text
27002143 these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development.
26613940 A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified.
25813846 A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution.
25755278 Results show that PKC-dependent phosphorylation of GAP43 plays a critical role in regulating postsynaptic gephyrin aggregation in developing GABAergic synapses.
25531214 The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
24561070 Structural exonic microdeletions affecting the GPHN gene constitute a rare genetic risk factor for IGE and other neuropsychiatric disorders by an impairment of the GABAergic inhibitory synaptic transmission.
24297911 The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors
24128675 abnormal accumulations of gephyrin are highly correlated with the neuropathologic diagnosis of Alzheimer disease in 17 AD versus 14 control cases. Furthermore, gephyrin accumulations were specific for AD.
23408424 Extracellular signal-regulated kinase and glycogen synthase kinase 3beta regulate gephyrin postsynaptic aggregation and GABAergic synaptic function in a calpain-dependent mechanism
23393157 Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
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AA Sequence

MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVPDEIEEIKETL      1 - 70
IDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTL     71 - 140
IINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGV    141 - 210
QCEEEEEEKKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLS    211 - 280
TASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDG    281 - 350
MGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG    351 - 420
ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGV    421 - 490
TEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNE    491 - 560
GISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVS    561 - 630
AVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRL    631 - 700
MSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL                                      701 - 736
//

Text Mined References (64)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
27002143 2016 IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation.
26613940 2015 Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
25813846 2015 Human gephyrin is encompassed within giant functional noncoding yin-yang sequences.
25755278 2015 Protein kinase C-dependent growth-associated protein 43 phosphorylation regulates gephyrin aggregation at developing GABAergic synapses.
25531214 2014 Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
24561070 2014 Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.
24297911 2013 Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24128675 2013 Abnormal gephyrin immunoreactivity associated with Alzheimer disease pathologic changes.
More...