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Nuclear fragile X mental retardation protein interacting protein 1

NUFIP, NUFIP1, nuclear FMRP interacting protein 1, nuclear FMRP interacting protein
This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012] (from NCBI)
Top mentioned proteins: CAN, 15.5K, Hsp90, FMR1, NOP17
Papers on NUFIP
Zfrp8 forms a complex with fragile-X mental retardation protein and regulates its localization and function.
Steward et al., United States. In Dev Biol, Feb 2016
In this study, we identified FMRP, Nufip (Nuclear Fragile-X Mental Retardation Protein-interacting Protein) and Tral (Trailer Hitch) as components of a Zfrp8 protein complex.
NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins.
Bertrand et al., Montpellier, France. In Nucleic Acids Res, Nov 2015
Biogenesis of box C/D snoRNPs involves NUFIP and the HSP90/R2TP chaperone system and here, we explore the function of this machinery in U4 RNP assembly.
Structure/Function Analysis of Protein-Protein Interactions Developed by the Yeast Pih1 Platform Protein and Its Partners in Box C/D snoRNP Assembly.
Manival et al., Vandœuvre-lès-Nancy, France. In J Mol Biol, Sep 2015
They contain one guide RNA and four core proteins and their in vivo assembly requires numerous factors including (HUMAN/Yeast) BCD1/Bcd1p, NUFIP1/Rsa1p, ZNHIT3/Hit1p, the R2TP complex composed of protein PIH1D1/Pih1p and RPAP3/Tah1p that bridges the R2TP complex to the HSP90/Hsp82 chaperone and two AAA+ ATPases.
Proteomic and 3D structure analyses highlight the C/D box snoRNP assembly mechanism and its control.
Bertrand et al., Montpellier, France. In J Cell Biol, 2014
In vivo, however, assembly factors are required (NUFIP, BCD1, and the HSP90-R2TP complex), and it is unknown whether a similar sequential scheme applies.
Characterization of the interaction between protein Snu13p/15.5K and the Rsa1p/NUFIP factor and demonstration of its functional importance for snoRNP assembly.
Branlant et al., Illkirch-Graffenstaden, France. In Nucleic Acids Res, 2014
They also bind the Rsa1p/NUFIP assembly factor, proposed to scaffold immature snoRNPs and to recruit the Hsp90-R2TP chaperone complex.
Protein Hit1, a novel box C/D snoRNP assembly factor, controls cellular concentration of the scaffolding protein Rsa1 by direct interaction.
Charpentier et al., Vandœuvre-lès-Nancy, France. In Nucleic Acids Res, 2013
This stabilizing activity is likely to be general across eukaryotic species, as the human protein ZNHIT3(TRIP3) showing sequence homology with Hit1p regulates the abundance of NUFIP1, the Rsa1p functional homolog.
Massively parallel sequencing reveals an accumulation of de novo mutations and an activating mutation of LPAR1 in a patient with metastatic neuroblastoma.
Khan et al., Bethesda, United States. In Plos One, 2012
Furthermore, transcriptome sequencing on the 3 tumors demonstrated only 3 out of the 15 commonly mutated genes (LPAR1, GATA2, and NUFIP1) had high level of expression of the mutant alleles, suggesting potential oncogenic driver roles of these mutated genes.
Bone mineral density-associated polymorphisms are associated with obesity-related traits in Korean adults in a sex-dependent manner.
Kim et al., Taejŏn, South Korea. In Plos One, 2011
Among 5 selected polymorphisms (rs9594738 of RANKL, rs17066364 of NUFIP1, rs7227401 of OSBPL1A, and rs1856057 and rs2982573 of ESR1) analyzed, 2 polymorphisms (rs9594738 and rs17066364) were associated with obesity-related traits.
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
Lohmann et al., Leipzig, Germany. In Eur J Hum Genet, 2011
Our data suggest that hemizygous loss of NUFIP1 and PCDH8 may contribute to psychomotor delay, deletion of MTLR1 to microcephaly and loss of EDNRB to feeding difficulties and deafness.
AtNUFIP, an essential protein for plant development, reveals the impact of snoRNA gene organisation on the assembly of snoRNPs and rRNA methylation in Arabidopsis thaliana.
Echeverría et al., Perpignan, France. In Plant J, 2011
Recent data in HeLa cells and yeast have revealed that assembly of these snoRNPs is directed by NUFIP protein and other auxiliary factors.
Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis.
Watkins et al., Newcastle upon Tyne, United Kingdom. In Mol Cell Biol, 2009
Our data imply that the snoRNP assembly factor NUFIP can regulate the interactions between TIP48 and TIP49 and the core box C/D proteins.
Screening a genome-wide S. pombe deletion library identifies novel genes and pathways involved in genome stability maintenance.
Hartsuiker et al., Brighton, United Kingdom. In Dna Repair (amst), 2009
Among these, we identified genes showing extensive homology to CtIP, Stra13, Ybp1/Ybp2, Human Fragile X mental retardation interacting protein NUFIP1, and Aprataxin.
The Hsp90 chaperone controls the biogenesis of L7Ae RNPs through conserved machinery.
Charpentier et al., Montpellier, France. In J Cell Biol, 2008
In this study, we show that Nufip and its yeast homologue Rsa1 are key components of the machinery that assembles these RNPs.
A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly.
Watkins et al., Newcastle upon Tyne, United Kingdom. In Mol Cell Biol, 2007
We have characterized four novel human biogenesis factors (BCD1, NOP17, NUFIP, and TAF9) which, along with the ATPases TIP48 and TIP49, are likely to be involved in the formation of the pre-snoRNP.
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Mari et al., Siena, Italy. In J Hum Genet, 2006
Four genes appear to be good functional candidates for the neurological phenotype: NUFIP1 (nuclear fragile X mental retardation protein 1), HTR2A (serotonin receptor 2A), PCDH8 (prothocaderin 8) and PCDH17 (prothocaderin 17).
BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II.
Murphy et al., Oxford, United Kingdom. In Oncogene, 2004
NUFIP is associated with preinitiation complexes, open transcription complexes, and elongation complexes and facilitates ATP-dependent dissociation of hyperphosphorylated pol II from open transcription complexes in vitro
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