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Nephronophthisis 1

NPHP1, NPH1, phot1, nephrocystin, phototropin 1
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, ACID, V1a, Inv
Papers using NPHP1 antibodies
Biochemical characterization of plasma membrane H+-ATPase activation in guard cell protoplasts of Arabidopsis thaliana in response to blue light
Shimazaki Ken-ichiro et al., In Plant Physiology, 2004
... gl1 phot1-5 phot2-1 mutant and all of the transgenic plants were grown on ...
Papers on NPHP1
Arabidopsis phot1 and phot2 phosphorylate BLUS1 kinase with different efficiencies in stomatal opening.
Shimazaki et al., Fukuoka, Japan. In J Plant Res, Feb 2016
UNASSIGNED: In Arabidopsis thaliana, phototropins (phot1 and phot2), light-activated receptor kinases, redundantly regulate various photoresponses such as phototropism, chloroplast photorelocation movement, stomatal opening, and leaf flattening.
The linker between LOV2-Jα and STK plays an essential role in the kinase activation by blue light in Arabidopsis phototropin1, a plant blue light receptor.
Tokutomi et al., Sakai, Japan. In Febs Lett, Jan 2016
Phototropin (phot), a blue light receptor in plants, is composed of several domains: LOV1, LOV2, and a serine/threonine kinase (STK).
Reconstitution of an Initial Step of Phototropin Signaling in Stomatal Guard Cells.
Shimazaki et al., Sakai, Japan. In Plant Cell Physiol, Jan 2016
Here, we succeeded in reproducing a primary step of phototropin signaling in vitro using a physiological substrate of phototropin, the BLUS1 (BLUE LIGHT SIGNALING1) kinase of guard cells.
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Lupski et al., Houston, United States. In Plos Genet, Dec 2015
Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within the human 2q13 region where low copy repeats (LCRs) are abundant.
Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
Liu et al., Changchun, China. In Genet Mol Res, 2014
The involved genes include EDDM3A, EDDM3B, HLA-DRB1, HLA-DQA1, POTE B, GOLGA8C, DNMT3L, ALF, NPHP1, NRG1, RID2, ADAMTS20, TWF1, COX10, MAK, and DNEL1.
Chloroplast movement.
Wada, Fukuoka, Japan. In Plant Sci, 2013
Avoidance from the strong light is mediated by blue light receptor phototropin 2 (phot2) plausibly localized on the chloroplast envelop and accumulation at the week light-irradiated area is mediated by phot1 and phot2 localized on the plasma membrane.
Decoding the role of phosphoinositides in phototropin signaling involved in chloroplast movements.
Gabryś et al., Kraków, Poland. In Plant Signal Behav, 2013
The two photoreceptors of Arabidopsis thaliana, phot1 and phot2, have overlapping roles in the control of these movements.
Phototropism: translating light into directional growth.
Fankhauser et al., Lausanne, Switzerland. In Am J Bot, 2013
The direction of incident light is sensed by the phototropin family of blue light photoreceptors (phot1 and phot2 in Arabidopsis), which are light-activated protein kinases.
Uncoordinated (UNC)119: coordinating the trafficking of myristoylated proteins.
Baehr et al., Salt Lake City, United States. In Vision Res, 2013
UNC119B knockdown in IMCD3 cells prevents trafficking ofmyristoylated nephrocystin-3 (NPHP3), a protein associated with nephronophthisis, to cilia.
Phytochrome Kinase Substrate 4 is phosphorylated by the phototropin 1 photoreceptor.
Fankhauser et al., Lausanne, Switzerland. In Embo J, 2012
Phytochrome Kinase Substrate 4 (PKS4), a known element of phot1 signalling, is a substrate of phot1 kinase activity in vitro and is phosphorylated in a phot1-dependent manner in vivo.
[Joubert syndrome and related disorders].
Jamroz et al., Katowice, Poland. In Neurol Neurochir Pol, 2012
The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome.
TULIPs: tunable, light-controlled interacting protein tags for cell biology.
Glotzer et al., Chicago, United States. In Nat Methods, 2012
We developed tunable light-inducible dimerization tags (TULIPs) based on a synthetic interaction between the LOV2 domain of Avena sativa phototropin 1 (AsLOV2) and an engineered PDZ domain (ePDZ).
Phototropins but not cryptochromes mediate the blue light-specific promotion of stomatal conductance, while both enhance photosynthesis and transpiration under full sunlight.
Casal et al., Mendoza, Argentina. In Plant Physiol, 2012
Leaf epidermal peels of Arabidopsis mutants lacking phototropins 1 and 2 exposed to a background of red light show severely impaired stomatal opening responses to blue light.
The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1.
Schermer et al., Philadelphia, United States. In Plos One, 2011
Plk1 colocalizes with nephrocystin-1 and induces it's phosphorylation in the transition zone of primary cilia in epithelial cells.
LOV2-linker-kinase phosphorylates LOV1-containing N-terminal polypeptide substrate via photoreaction of LOV2 in Arabidopsis phototropin1.
Tokutomi et al., Sakai, Japan. In Febs Lett, 2011
photoregulation of the kinase in phototropin1 (phot1)
Modulation of phototropic responsiveness in Arabidopsis through ubiquitination of phototropin 1 by the CUL3-Ring E3 ubiquitin ligase CRL3(NPH3).
Liscum et al., Columbia, United States. In Plant Cell, 2011
The plasma membrane-associated phototropic receptor phot1 is ubiquitinated in response to blue light activation. Ubiquitination of phot1 is dependent upon both the phot1-interacting proteins NPH3 and CUL3.
Rationally improving LOV domain-based photoswitches.
Sosnick et al., Chicago, United States. In Nat Methods, 2010
Here we report a method that increases the dynamic range of an artificial photoswitch based on the LOV2 domain of Avena sativa phototropin 1 (AsLOV2).
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Gleeson et al., San Diego, United States. In Nat Genet, 2010
This phenotype also shows dosage-sensitive genetic interactions with Nphp1, another ciliopathy-related gene.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Roepman et al., Nijmegen, Netherlands. In Nat Genet, 2007
We show that RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4) that are known to cause SLSN disrupt this interaction.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Saunier et al., Paris, France. In Nat Genet, 2007
In addition, the RPGRIP1L missense mutations found in CORS individuals diminishes the interaction between RPGRIP1L and nephrocystin-4.
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