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| PNN | Pinin; Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5’CAGGTG-3’. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulatio [...] (717 aa) | |||
| SRSF6 | Serine/arginine-rich splicing factor 6; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing; Belongs to the splicing factor SR family (344 aa) | |||
| FUS | RNA-binding protein FUS; Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single- stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity; Belongs to the RRM TET family (526 aa) | |||
| SRSF1 | Serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5’- and 3’-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5’-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5’-RGAAGAAC-3’ (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5’- CGAGGCG-3’ motif in vitro. Three copies of the octame [...] (248 aa) | |||
| LUC7L | Putative RNA-binding protein Luc7-like 1; May bind to RNA via its Arg/Ser-rich domain; Belongs to the Luc7 family (371 aa) | |||
| NCSTN | Nicastrin; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma- secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (709 aa) | |||
| SNIP1 | Smad nuclear-interacting protein 1; Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3’end of the CCND1 gene and its mRNA (396 aa) | |||
| TCERG1 | Transcription elongation regulator 1; Transcription factor that binds RNA polymerase II and inhibits the elongation of transcripts from target promoters. Regulates transcription elongation in a TATA box-dependent manner. Necessary for TAT-dependent activation of the human immunodeficiency virus type 1 (HIV-1) promoter (1098 aa) | |||
| TRA2A | Transformer-2 protein homolog alpha; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing (282 aa) | |||
| VASN | Vasorin; May act as an inhibitor of TGF-beta signaling (673 aa) | |||
| U2AF2 | Splicing factor U2AF 65 kDa subunit; Necessary for the splicing of pre-mRNA. By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the [...] (475 aa) | |||
| ZNF687 | Zinc finger protein 687; May be involved in transcriptional regulation (1237 aa) | |||
| TRIM55 | Tripartite motif-containing protein 55; May regulate gene expression and protein turnover in muscle cells; Ring finger proteins (548 aa) | |||
| SREK1 | Splicing regulatory glutamine/lysine-rich protein 1; Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity); RNA binding motif containing (624 aa) | |||
| CLK2 | Dual specificity protein kinase CLK2; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Acts as a suppressor of hepatic gluconeogenesis and glucose output by repressing PPARGC1A transcriptional activity on gluconeogenic genes via its phosphorylation. Phosphory [...] (499 aa) | |||
| PHGDH | D-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D- glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family (533 aa) | |||
| BCAS2 | Pre-mRNA-splicing factor SPF27; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) (225 aa) | |||
| SRSF4 | Serine/arginine-rich splicing factor 4; Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10; RNA binding motif containing (494 aa) | |||
| CLK3 | Dual specificity protein kinase CLK3; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells; CDC like kinases (638 aa) | |||
| ZC3H18 | Zinc finger CCCH-type containing 18 (977 aa) | |||
| TRA2B | Transformer-2 protein homolog beta; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre- mRNA; Belongs to the splicing factor SR family (288 aa) | |||
| SRSF10 | Serine/arginine-rich splicing factor 10; Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing. Seems to interfere with the U1 snRNP 5’-splice recognition of SNRNP70. Required for splicing repression in M-phase cells and after heat shock. Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, lead [...] (262 aa) | |||
| LUC7L2 | Putative RNA-binding protein Luc7-like 2; May bind to RNA via its Arg/Ser-rich domain (458 aa) | |||
| TUBGCP2 | Gamma-tubulin complex component 2; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome (930 aa) | |||
| SNRNP70 | U1 small nuclear ribonucleoprotein 70 kDa; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5’ splice-site and the subsequent assembly of the spliceosome. SNRNP70 binds to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA; RNA binding motif containing (437 aa) | |||
| SAP18 | Histone deacetylase complex subunit SAP18; Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during [...] (172 aa) | |||
