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| MTHFD1 | C-1-tetrahydrofolate synthase, cytoplasmic; Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1; In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family (935 aa) | |||
| PLIN3 | Perilipin-3; Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network; Perilipins (434 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) | |||
| GPD1L | Glycerol-3-phosphate dehydrogenase 1-like protein; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L (351 aa) | |||
| SMARCA5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5; Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. [...] (1052 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) | |||
| NUDT9 | ADP-ribose pyrophosphatase, mitochondrial; Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5’- phosphate; Nudix hydrolase family (350 aa) | |||
| VASN | Vasorin; May act as an inhibitor of TGF-beta signaling (673 aa) | |||
| TYMS | Thymidylate synthase; Contributes to the de novo mitochondrial thymidylate biosynthesis pathway (313 aa) | |||
| UBE2N | Ubiquitin-conjugating enzyme E2 N; The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical ’Lys-63’-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the ’Lys-63’-linked poly-ubiquitination of P [...] (152 aa) | |||
| TRIM55 | Tripartite motif-containing protein 55; May regulate gene expression and protein turnover in muscle cells; Ring finger proteins (548 aa) | |||
| PROSC | Pyridoxal phosphate homeostasis protein; Pyridoxal 5’-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5’-phosphate (PLP), the active form of vitamin B6 (275 aa) | |||
| USP7 | Ubiquitin carboxyl-terminal hydrolase 7; Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53- dependent transcription regulation, cell growth repression and apoptosis. Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of [...] (1102 aa) | |||
| THRAP3 | Thyroid hormone receptor-associated protein 3; Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin-D1/CCND1 mRNA s [...] (955 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) | |||
| SRSF11 | Serine/arginine-rich splicing factor 11; May function in pre-mRNA splicing; RNA binding motif containing (484 aa) | |||
| PGAM1 | Phosphoglycerate mutase 1; Interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity (254 aa) | |||
| CDC5L | Cell division cycle 5-like protein; DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR); Myb/SANT domain containing (802 aa) | |||
| PSAT1 | Phosphoserine aminotransferase; Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily (370 aa) | |||
| SMU1 | WD40 repeat-containing protein SMU1; Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis. Required for normal accumulation of IK; Belongs to the WD repeat SMU1 family (513 aa) | |||
| IK | Protein Red; Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression. Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint. Required for normal accumulation of SMU1 (557 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) | |||
| MYL6 | Myosin light polypeptide 6; Regulatory light chain of myosin. Does not bind calcium; EF-hand domain containing (151 aa) | |||
| GDPGP1 | GDP-D-glucose phosphorylase 1; Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells (385 aa) | |||
| RAD23A | UV excision repair protein RAD23 homolog A; Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to ’Lys-48’-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to ’Lys-63’-linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome; Nucleotide excision repair (363 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) | |||
