• SMN is critical for small nuclear ribonucleoprotein (snRNP) assembly. (ox.ac.uk)
  • Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). (cancer-genetics.org)
  • The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. (cancer-genetics.org)
  • SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). (icr.ac.uk)
  • The essential splicing signal sequences in pre-mRNA-the 5' splice site, the branch-site sequence, and the poly-pyrimidine tract (PPT) followed by the 3′ splice site-are bound by the splicing factors U1 snRNP, U2 snRNP, and U2AF 65 /U2AF 35 , respectively, which together constitute the spliceosomal A complex. (innovitaresearch.com)
  • PPIH enzyme is a precise factor of the complex that comprises pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. (prospecbio.com)
  • The large ~280-kDa U5 snRNP protein PRPF8 is central to the dynamics of spliceosome assembly [ 11 ]. (biomedcentral.com)
  • Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)
  • The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. (ox.ac.uk)
  • Protein-coding genes carry the blueprint for protein production. (innovitaresearch.com)
  • Based on a comparative analysis of BPH and SBPH after transfer, the genes associated with sugar transporters and heat-shock proteins showed similar variation. (biomedcentral.com)
  • The AU-rich element RNA-binding protein 1 (AUF1) is an RNA-binding protein, which can both stabilize and destabilize the transcripts of several cancer-related genes. (nature.com)
  • In stage 4- compared with stage 1- tumors, alternatively spliced candidate genes had little overlap with genes showing whole gene expression changes, and most of them were involved in different biological processes. (biomedcentral.com)
  • Either de novo mutations in synaptic genes, congenital abnormalities of epigenetic control (for example, Rett syndrome), or acquired alterations of epigenetic control induced by various environmental factors can lead to synaptic dysfunction and resultin autism. (biomedcentral.com)
  • Long non-coding RNA small nucleolar RNA host genes (SNHGs) play a critical role in the occurrence and development of tumors. (xiahepublishing.com)
  • The three genes encoding these proteins were inserted individually into vaccinia virus GLV-1h68 genome under the control of an identical promoter. (uni-wuerzburg.de)
  • Antioxidant genes such as ferritin are transcriptionally activated in oxidative stress via the antioxidant responsive element (ARE), to which nuclear factor-E2-related factor 2 (Nrf2) binds and activates transcription. (embl.de)
  • Arsenic exposure of human HaCaT keratinocytes induced nuclear accumulation of PRMT1 and PRMT4, histone H4R3 and H3R17 methylation proximal to the ARE, but not to the non-ARE regions of ferritin genes. (embl.de)
  • Many of these signatures are found in NP, PA, and PB2 genes (viral ribonucleoproteins [RNPs]) and are mostly located in the functional domains related to RNP-RNP interactions that are important for viral replication. (cdc.gov)
  • Although many research efforts have focused on the molecular evolution of specific genes of influenza viruses, comprehensive comparisons among the nucleotide sequences of all 8 genomic segments and among the 11 encoded protein sequences have not been extensively reported. (cdc.gov)
  • To analyze splicing activity, they selected HNRNPH1 pre-mRNA (heterogeneous nuclear ribonucleoprotein H1) including a 56-nt short intron. (innovitaresearch.com)
  • Expression of IRAK4-L is mediated by mutant U2 small nuclear RNA auxiliary factor 1 (U2AF1) and is associated with oncogenic signalling in MDS and AML. (cancer-genetics.org)
  • U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit- related protein 2 (U2(RNU2) small nuclear RNA auxiliary factor 1-like 2) (CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2) (Renal carcinoma antigen NY-REN-20). (yellowcouch.org)
  • U2 auxiliary factor 2 (U2AF2) showed strong correlation with SNHG4 , while low-expression of U2AF2 showed good prognosis. (xiahepublishing.com)
  • Small nuclear ribonucleoprotein D2 has been shown to interact with DDX20, Small nuclear ribonucleoprotein D1, Small nuclear ribonucleoprotein polypeptide F, CDC5L and SMN1. (wikipedia.org)
  • U bodies are cytoplasmic structures that contain uridine-rich small nuclear ribonucleoproteins and associate with P bodies. (ox.ac.uk)
  • This process is carried out by the human spliceosome machinery, in which over 300 proteins sequentially assemble with uridine-rich small nuclear RNA molecules (U snRNAs) to form distinct small nuclear ribonucleoprotein complexes (snRNPs). (biomedcentral.com)
  • Human pre-mRNA splicing involves dynamic stepwise reactions in a huge protein-RNA complex called "spliceosome," which includes five kinds of small nuclear ribonucleoproteins, called U snRNPs, and many protein factors. (innovitaresearch.com)
  • It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. (wikipedia.org)
  • To examine the involvement of interchromatin granule clusters (IGCs) in transcription and pre-mRNA splicing in mammalian cell nuclei, the serine-arginine (SR) protein kinase cdc2-like kinase (Clk)/STY was used as a tool to manipulate IGC integrity in vivo. (rupress.org)
  • However, both the accumulation of splicing factors at sites of pre-mRNA synthesis as well as pre-mRNA splicing are dramatically reduced, demonstrating that IGC disassembly perturbs coordination between transcription and pre-mRNA splicing in mammalian cell nuclei. (rupress.org)
  • The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins. (ox.ac.uk)
  • Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). (icr.ac.uk)
  • Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077). (icr.ac.uk)
  • Pre-mRNA splicing in a subset of human short introns is governed by a distinct mechanism involving a new splicing factor. (innovitaresearch.com)
  • As human pre-mRNA introns vary in length, the splicing mechanisms and factors involved are likely not universal. (innovitaresearch.com)
  • In higher organisms, however, most of the coding-gene transcripts, or pre-mRNAs, are separated by non-coding sequences called "introns," which must be cut out or "spliced" to make mature mRNA that can be translated into protein. (innovitaresearch.com)
  • The C55T substitution significantly reduced both M2 mRNA and protein levels regardless of the virus subtype. (biomedcentral.com)
  • evm.model.tig00001501.4","tig00001501_g9219.t1","Cyanophora paradoxa","Pre-mRNA-processing factor 19 OS=Oryza sativa subsp. (ntu.edu.sg)
  • protein_coding" "Cz03g40300.t1","No alias","Chromochloris zofingiensis","Pre-mRNA processing factor 4 (PRP4)-like [Interproscan]. (ntu.edu.sg)
  • protein_coding" "Cz05g30030.t1","No alias","Chromochloris zofingiensis","mRNA splicing factor Cwf21 domain [Interproscan]. (ntu.edu.sg)
  • Trans -acting splicing factors, pre-mRNA secondary structure and chromatin organization are now known to directly affect alternative splicing decisions [ 6 ]. (biomedcentral.com)
  • Mutations in pre-mRNA splicing factors including PRPF31 have been identified as cause for RP, raising the question how mutations in general factors lead to tissue specific defects. (uni-wuerzburg.de)
  • Multiple lines of evidence implicate SMN in the regulation of germline nuclear organization through the connection of U bodies and P bodies. (ox.ac.uk)
  • Regulation of this process is even more complicated, relying on loosely defined cis-acting regulatory sequence elements, trans-acting protein factors and cellular responses to varying environmental conditions. (ox.ac.uk)
  • Transcriptional regulation of the human ferritin gene by coordinated regulation of Nrf2 and protein arginine methyltransferases PRMT1 and PRMT4. (embl.de)
  • PRMT6 is a protein arginine methyltransferase that has been implicated in transcriptional regulation, DNA repair, and human immunodeficiency virus pathogenesis. (embl.de)
  • Chromatin target of Prmt1 (Chtop) is a vertebrate-specific chromatin-bound protein that plays an important role in transcriptional regulation. (embl.de)
  • Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. (nih.gov)
  • Our data suggest that the protein-protein interactions responsible for the clustering of interchromatin granules are disrupted when SR proteins are hyperphosphorylated and stabilized when SR proteins are hypophosphorylated. (rupress.org)
  • Its major distinguishing features are the ability to bind RNA in a very specific manner through two RNA recognition motifs (RRM) and the C-terminal portion of the protein, which includes a glycine-rich domain that is involved in most of the protein interactions described 3 . (nature.com)
  • This region contains a glutamine/asparagine (Q/N) prion-like domain that participates in protein-protein interactions and in the TDP-43 aggregation process 4 , 5 . (nature.com)
  • The nuclear trafficking of the viral components mobilizes cellular import factors at different stages, making these host-pathogen interactions promising targets for new therapeutics. (nih.gov)
  • PPIH possess PPIase activity and acts as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. (prospecbio.com)
  • WW domain-mediated interactions reveal a spliceosome-associated protein that binds a third class of proline-rich motif: the proline glycine and methionine-rich motif. (embl.de)
  • In yeast, this bridging involves interactions between the WW domains in the splicing factor PRP40 and a proline-rich domain in the branchpoint binding protein, BBP. (embl.de)
  • Interacts directly with the splicing factor U2AF (PubMed:12234937). (icr.ac.uk)
  • A study by researchers from Fujita Health University in Japan reports a subset of human short introns that are spliced by novel essential splicing factor, SPF45 (RBM17), instead of by a known splicing factor, U2AF dimer. (innovitaresearch.com)
  • A PPT sequence and the downstream 3′ splice site is required for binding of the known authentic splicing factor U2AF heterodimer (U2AF 65 /U2AF 35 ). (innovitaresearch.com)
  • The research team offers a solution to this enigma by demonstrating that SPF45 is a novel and distinct constitutive splicing factor in the early spliceosome, i.e., a subset of human short introns with truncated PPTs is spliced out with SPF45 but not with previously known authentic U2AF heterodimer. (innovitaresearch.com)
  • Using Drosophila oogenesis as a model system, we show that mutations in smn cause abnormal nuclear organization in nurse cells and oocytes. (ox.ac.uk)
  • Scope includes mutations and abnormal protein expression. (cancer-genetics.org)
  • Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. (molvis.org)
  • Missense mutations in PRPF31 have previously been shown to cause reduced protein solubility, suggesting insufficiency of functional protein as the disease mechanism. (molvis.org)
  • The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function. (molvis.org)
  • Mutations associated with these diseases are clustered in or near the stem- loop III of U12 snRNA, with three of the mutations located in the Sm protein binding site. (jcu.edu)
  • Transcription initiation factor TFIID. (wfleabase.org)
  • Gene expression, Kaplan-Meier survival, microRNA and transcription factor target analyses were performed with the University of Alabama Cancer (UALCAN) Database, Kaplan-Meier Plotter, LinkedOmics, WebGestalt and gene set enrichment analysis, respectively. (xiahepublishing.com)
  • SNHG4 is closely associated with miR-154 and miR-206, transcription factor target E2F family and the signaling pathway for MAPK/ERK and mTOR. (xiahepublishing.com)
  • To test our hypothesis that histone H4R3 and H3R17 methylation regulates ferritin transcription, H4R3 and H3R17 protein arginine (R) methyltransferases 1 and 4 (PRMT1 and PRMT4) were investigated. (embl.de)
  • The assembly of PRMT6 protein network allowed us to formulate functional hypotheses which led to the discovery of new molecular partners for the architectural transcription factor HMGA1a, a known substrate for PRMT6, and to provide evidences for a modulatory role of HMGA1a on the methyltransferase activity of PRMT6. (embl.de)
  • Programmable DNA binding proteins have emerged as an exciting platform for engineering synthetic transcription factors for modulating endogenous gene expression 5 - 11 . (cdc.gov)
  • Among the established custom DNA binding domains, Cas9 is most easily scaled to facilitate genome-scale perturbations 3 , 4 due to its simplicity of programming relative to zinc finger proteins and transcription activator-like effectors (TALEs). (cdc.gov)
  • Cas9 nuclease can be converted into an RNA-guided DNA binding protein (dCas9) via inactivation of its two catalytic domains 12 , 13 and then fused to transcription activation domains. (cdc.gov)
  • Splicing factor 3b is also a component of the minor U12-type spliceosome. (cancer-genetics.org)
  • The core spliceosome component PRPF8 is essential for spliceosome assembly through its participation in ribonucleoprotein (RNP) complexes for splice-site recognition, branch-point formation and catalysis. (biomedcentral.com)
  • Both immunofluorescence and transmission electron microscopy analyses of cells overexpressing Clk/STY indicate that IGC components are completely redistributed to a diffuse nuclear localization, leaving no residual structure. (rupress.org)
  • Germline and mitotic clonal analysis reveals that both nurse cells and oocytes require SMN to maintain normal organization of nuclear compartments including chromosomes, nucleoli, Cajal bodies and histone locus bodies. (ox.ac.uk)
  • Interleukin-1 receptor-associated kinase 4 (IRAK4) was the dominant alternatively spliced isoform in MDS and AML and is characterized by a longer isoform that retains exon 4, which encodes IRAK4-long (IRAK4-L), a protein that assembles with the myddosome, results in maximal activation of nuclear factor kappa-light-chain-enhancer of B cells (NF-κB) and is essential for leukaemic cell function. (cancer-genetics.org)
  • They downregulated these proteins' expression in a human cell line (HeLa cells) using small interfering RNAs (siRNA). (innovitaresearch.com)
  • To further confirm that SPF45 is a common splicing factor for a group of short introns, they performed whole-transcriptome sequencing with RNA prepared from the SPF45-knockdown cells. (innovitaresearch.com)
  • Stage, age, and other biological features in tumour cells are important prognostic factors for risk stratification and disease management. (biomedcentral.com)
  • Caspase 3 is a cysteine containing protein and a key enzyme in executing apoptosis in cells. (jcu.edu)
  • Explore our solutions for multiple applications - vaccines, monoclonal antibodies, recombinant proteins, cell or gene therapy. (vwr.com)
  • The viral nucleoprotein (NP) is the major component of the viral ribonucleoprotein. (nih.gov)
  • Each segment is wrapped by a nucleoprotein (NP) into a viral ribonucleoprotein (RNP) complex along with a viral RNA polymerase complex comprising polymerase basic 1 (PB1) polymerase, cap‐binding PB2 subunit, and polymerase acidic (PA) endonuclease. (biomedcentral.com)
  • Splicing of the NS segment, which encodes the host shutoff protein non-structural protein 1 (NS1), generates the nuclear export protein (NEP/NS2) that is involved in viral RNP export from the host nucleus [ 8 ]. (biomedcentral.com)
  • M1 is a structural matrix protein that stabilizes viral particles, whereas the ion channel protein M2 is embedded in the viral envelope and regulates the uncoating of vRNP [ 9 ]. (biomedcentral.com)
  • 2 Risk factors, including viral infection, alcoholic cirrhosis and fatty liver, along with chronic inflammatory disorders of the biliary tract, genetic diseases and carcinogens, contribute to the risk of HCC. (xiahepublishing.com)
  • In conclusion, by identifying a common set of proteins that are differentially expressed in a similar manner in these two different conditions, we show that TDP-43 aggregation has a comparable effect to TDP-43 knockdown. (nature.com)
  • The well-known function of AUF1 is the destabilization of mRNAs by forming complexes with other proteins. (nature.com)
  • [ 1 ] The initial definition identified patients with a specific autoantibody profile, high titers of anti-U1 ribonucleoprotein (70-kD) autoantibody (anti-RNP Ab) but without anti-Smith autoantibody (anti-Sm Ab), in association with specific clinical criteria. (medscape.com)
  • Antinuclear antibody titers were elevated (anti-smith and U1 small nuclear ribonucleoprotein) and Rheumatoid Factor was positive. (bvsalud.org)
  • [ 5 ] it has a sensitivity of 95%-100%, especially if it is found in high titers (ie, 1:1,000,000) and in isolation (ie without other extractable nuclear antigens such as anti-double stranded DNA). (medscape.com)
  • Peptides identified from different proteins by fragment ion analysis. (lu.se)
  • Epigenetics is a mechanism that regulates gene expression independently of the underlying DNA sequence, relying instead on the chemical modification of DNA and histone proteins. (biomedcentral.com)
  • Family of C2H2-type zinc fingers, present in matrin, U1 small nuclear ribonucleoprotein C and other RNA-binding proteins. (embl.de)
  • Zinc finger (Znf) domains are relatively small protein motifs which contain multiple finger-like protrusions that make tandem contacts with their target molecule. (embl.de)
  • The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway. (ox.ac.uk)
  • Survival motor neuron protein (SMN) is the determining factor for the human neurodegenerative disease spinal muscular atrophy (SMA). (ox.ac.uk)
  • The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. (nih.gov)
  • This gene encodes subunit 1 of the splicing factor 3b protein complex. (cancer-genetics.org)
  • Finally, biochemical analyses and splicing assays with various mutant SPF45 proteins helped establish the model of SPF45-dependent splicing on a short intron with a truncated PPT (Figure 1). (innovitaresearch.com)
  • However, impaired splicing affects only a subset of human transcripts, enriched for mitotic cell cycle factors, leading to mitotic arrest. (biomedcentral.com)
  • As mentioned in the Introduction, the hallmark of mixed connective tissue disease is the presence of autoantibodies to U1 small nuclear ribonucleoproteins, in particular a 70-kDa U1 protein. (medscape.com)
  • Specific anti-RNP autoantibodies that preferentially bind to the apoptotic form of the U1 protein have been demonstrated in a group of patients with mixed connective tissue disease (29 of 53 tested). (medscape.com)
  • Five friends of methylated chromatin target of protein-arginine-methyltransferase[prmt]-1 (chtop), a complex linking arginine methylation to desumoylation. (embl.de)
  • however, SPF45 is also an essential factor for cell survival and maintenance in vivo . (innovitaresearch.com)
  • With the wealth of knowledge from these studies, identification of small-molecule inhibitors that specifically disrupt the polymerase assembly or abrogate polymerase activities has emerged as an innovative and promising approach. (hku.hk)
  • DNA polymerase, Y-family, little finger domain [Interproscan]. (ntu.edu.sg)
  • IGCs are composed of particles measuring 20-25 nm in diameter, and they contain numerous factors that are involved in RNA synthesis and processing. (rupress.org)
  • In addition, CirclncRNAnet and ENCORI were used to find the correlation between SNHG4 and important proteins, while the prognostic value was assessed with the Human Protein Atlas database and Kaplan-Meier Plotter. (xiahepublishing.com)
  • Adding support to the concept of mixed connective tissue disease as a distinct entity, in 1993, Mairesse et al described an autoantibody to the constitutive 73-kD heat shock protein found at high levels exclusively in patients with mixed connective tissue disease. (medscape.com)
  • GAS2-like protein 1 (Growth arrest-specific 2-like 1) (GAS2-related protein on chromosome 22) (GAR22 protein). (yellowcouch.org)
  • Using a cell apoptosis assay based on stimulation of a RANK:Fas fusion protein, and a cellular NF-kappaB signaling assay, we showed that R12-31 was agonist for both species. (cnrs.fr)
  • We subsequently used 15,785 protein sequences from the National Center for Biotechnology Information (NCBI) to assess the robustness of these signatures and obtained 52 "species-associated" positions. (cdc.gov)
  • Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the SNRPD2 gene. (wikipedia.org)
  • Conversely, overexpression of a catalytically inactive mutant, Clk/STY(K190R), causes retention of hypophosphorylated SR proteins in nuclear speckles. (rupress.org)
  • To explore the physiological role of the various levels of M2 protein in pathogenicity, we challenged C57BL/6 mice with the H1N1 WSN wild-type strain, mutant H1N1 (55T), and chimeric viruses including H1N1 + H3wt and H1N1 + H3mut. (biomedcentral.com)
  • Following TDP-43 sequestration in insoluble aggregates, we observed higher nuclear levels of EIF4A3 and POLDIP3β, whereas nuclear levels of DNMT3A, HNRNPA3, PABPC1 and POLDIP3α dropped and cytoplasmic levels of RANBP1 dropped. (nature.com)
  • In addition, immunofluorescence signal intensity quantifications showed increased nuclear expression of HNRNPL and YARS and downregulation of cytoplasmic DPCD. (nature.com)
  • Furthermore, cytoplasmic levels of predominantly nuclear protein ALYREF increased. (nature.com)
  • How are these short introns able to accommodate the oversized complex with the known essential factors? (innovitaresearch.com)
  • adaptor related protein complex 2 subu. (gsea-msigdb.org)
  • 5FMC is a nuclear complex that can only be recruited by Chtop when the latter is arginine-methylated by Prmt1. (embl.de)
  • [ 9 ] which is made up of a complex of proteins and a small nuclear RNA named U1. (medscape.com)
  • The interrupted non-coding regions in pre-mRNAs, termed "introns," are excised by "splicing" to generate mature coding mRNAs that are translated into proteins. (innovitaresearch.com)
  • Most of these studies focus on the identification of splicing variants in tumor, while little has been explored on the role of alternative splicing in tumors of different stages and molecular subtypes. (biomedcentral.com)
  • ARVCF expression is significantly correlated with the malignant phenotype of non-small cell lung cancer. (nih.gov)
  • For the purpose of this study we selected a set of proteins that were misregulated following silencing of TDP-43 and analysed their expression in a TDP-43-aggregation model cell line HEK293 Flp-in Flag-TDP-43-12x-Q/N F4L. (nature.com)
  • During cell death or apoptosis, the 70-kDa protein is cleaved by caspase-3 into a small 40-kDa protein. (medscape.com)
  • Our work shows that the process of protein S-glutathionylation can affect cellular protein physiological functions under oxidative stress. (jcu.edu)
  • TDP-43 protein plays an important role in regulating transcriptional repression, RNA metabolism and splicing. (nature.com)
  • CircRNAs have essential functions as microRNA sponges, RNA-binding protein- and transcriptional regulators, and protein translation templates. (biomedcentral.com)
  • Protein disulfide isomerase. (wfleabase.org)
  • Protein disulfide is. (wfleabase.org)
  • S-glutathionylation is a form of post-translational modification where glutathione forms disulfide bonds with protein cysteine residues under oxidative conditions. (jcu.edu)
  • They display considerable versatility in binding modes, even between members of the same class (e.g. some bind DNA, others protein), suggesting that Znf motifs are stable scaffolds that have evolved specialised functions. (embl.de)