gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Oligophrenin 1

OPHN1, oligophrenin-1
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Rhodopsin, XLMR, RhoGAP, OUT, GDP dissociation inhibitor
Papers on OPHN1
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Gecz et al., Adelaide, Australia. In Hum Mol Genet, Jan 2016
We also show that STAG2 gains result in increased expression of OPHN1, a known X-chromosome ID gene.
Next-generation sequencing in X-linked intellectual disability.
Bauer et al., Dresden, Germany. In Eur J Hum Genet, Nov 2015
We found 18 pathogenic variants in 13 XLID genes (AP1S2, ATRX, CUL4B, DLG3, IQSEC2, KDM5C, MED12, OPHN1, SLC9A6, SMC1A, UBE2A, UPF3B and ZDHHC9) among the 150 male patients.
Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells.
Gasman et al., Paris, France. In J Neurosci, Sep 2015
Oligophrenin-1 (OPHN1) is a protein with multiple domains including a Rho family GTPase-activating (Rho-GAP) domain, and a Bin-Amphiphysin-Rvs (BAR) domain.
Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.
Antonescu et al., New York City, United States. In Am J Surg Pathol, Jun 2015
In addition, novel RAD51B gene rearrangements were identified in 3 (8%) uterine PEComas, which showed a complex fusion pattern and were fused to RRAGB/OPHN1 genes in 2 cases.
Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.
Zanni et al., Roma, Italy. In Biochem Biophys Res Commun, May 2015
We found that inhibition of the ROCK pathway in induced pluripotent stem cells, leads to nuclear export of HDAC7 and transcriptional activation of the orphan nuclear receptor NR4A1 while in cells with constitutive ROCK hyperactivity due to loss of function of the RhoGTPase activating protein Oligophrenin-1 (OPHN1), the orphan nuclear receptor NR4A1 is downregulated.
Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice.
Elvers et al., Tübingen, Germany. In J Thromb Haemost, Apr 2015
Recently, we identified oligophrenin1 (OPHN1), a RhoGAP in platelets that exhibits strong GTPase-stimulating activity towards RhoA, Cdc42 and Rac1.
RhoGAPs and Rho GTPases in platelets.
Elvers, Düsseldorf, Germany. In Hamostaseologie, Mar 2015
The recently identified RhoGAPs Oligophrenin1 (OPHN1) and Nadrin regulate the activity of RhoA, Rac1 and Cdc42 and subsequent platelet cytoskeletal reorganization, platelet activation and thrombus formation.
Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study.
Raymond et al., Cambridge, United Kingdom. In J Neurodev Disord, 2014
We compared males with X-linked ID caused by mutations in three MAGUK genes (PAK3, DLG3, OPHN1; n = 9) to males with ID caused by mutations in other X chromosome genes (n = 17).
The GRAF family member oligophrenin1 is a RhoGAP with BAR domain and regulates Rho GTPases in platelets.
Gawaz et al., Tübingen, Germany. In Cardiovasc Res, 2012
OPHN1 is a powerful regulator of Rho GTPase activity in platelets that is critical for the reorganization of the cytoskeleton, which is a major process required for stable platelet adhesion and thrombus formation to occur.
Global gene analysis of oocytes from early stages in human folliculogenesis shows high expression of novel genes in reproduction.
Lykke-Hartmann et al., Århus, Denmark. In Mol Hum Reprod, 2012
Several genes expressed at exceptionally high levels were identified associated with early oocyte development, TMEFF2, the Rho-GTPase-activating protein oligophrenin 1 (OPHN1) and the mitochondrial-encoded ATPase6 (ATP6).
Oligophrenin-1 (Ophn1) is expressed in mouse retinal vessels.
Kalinski et al., Erlangen, Germany. In Gene Expr Patterns, 2012
Ophn1 is involved in processes of normal retinal vessel function during adulthood.
Rapid synthesis of the X-linked mental retardation protein OPHN1 mediates mGluR-dependent LTD through interaction with the endocytic machinery.
Van Aelst et al., New York City, United States. In Neuron, 2011
our data establish a role for rapid OPHN1 synthesis in mGluR long-term depression.
A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα.
Passafaro et al., Milano, Italy. In Nat Neurosci, 2011
The results of this study indicated the presence of a circadian oscillator in the hippocampus, involving the clock gene Bmal1 (also known as Arntl), that is modulated by Rev-erbalpha and requires oligophrenin-1 for normal oscillation.
Could autism with mental retardation result from digenism and frequent de novo mutations?
Gomot et al., Tours, France. In World J Biol Psychiatry, 2008
Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes".
X linked mental retardation: a clinical guide.
Raymond, Cambridge, United Kingdom. In J Med Genet, 2006
The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis.
[Non-specific X-linked mental retardation].
Martínez-Castellano, Valencia, Spain. In Rev Neurol, 2006
Moreover, genes such as OPHN1, PAK3, ARHGEF6, FGD1 or TM4SF2 code for proteins that interact with rho GTPases, and play a role in the transmission of signals that regulate the development of axons and dendrites.
[Monogenic causes of X-linked mental retardation].
Glóver-López et al., Cartagena, Spain. In Rev Neurol, 2006
Cerebellar hypoplasia points towards alterations of the OPHN1 gene.
Is mental retardation a defect of synapse structure and function?
Gleeson et al., San Diego, United States. In Pediatr Neurol, 2003
Four genes mutated in families with mental retardation encode proteins known as Rho guanine nucleotide exchange factor 6, oligophrenin-1, p21-activated kinase, and guanine dissociation inhibitor 1.
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Gal et al., Hamburg, Germany. In Nat Genet, 2000
So far, seven X-chromosomal genes mutated in nonspecific mental retardation (MRX) have been identified: FMR2, GDI1, RPS6KA3, IL1RAPL, TM4SF2, OPHN1 and PAK3 (refs 2-9).
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Chelly et al., Paris, France. In Nature, 1998
This gene is highly expressed in fetal brain and encodes a protein of relative molecular mass 91K, named oligophrenin-1, which contains a domain typical of a Rho-GTPase-activating protein (rhoGAP).
share on facebooktweetadd +1mail to friends