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TRMT2A | tRNA (uracil-5-)-methyltransferase homolog A; May be involved in nucleic acid metabolism and/or modifications; tRNA methyltransferases (625 aa) | |||
SPOPL | Speckle-type POZ protein-like; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, but with relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complexes containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL are less efficient than ubiquitin ligase complexes containing only SPOP. May function to down-regulate the activity of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes [...] (392 aa) | |||
ANKRD44 | Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates; Ankyrin repeat domain containing (993 aa) | |||
ATP5S | ATP synthase subunit s, mitochondrial; Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity) (215 aa) | |||
DHX34 | Probable ATP-dependent RNA helicase DHX34; Probable ATP-binding RNA helicase; DEAH-box helicases (1143 aa) | |||
PPCDC | Phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4’- phosphopantotheine (204 aa) | |||
RAD52 | DNA repair protein RAD52 homolog; Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase; Belongs to the RAD52 family (418 aa) | |||
EXO1 | Exonuclease 1; 5’->3’ double-stranded DNA exonuclease which may also possess a cryptic 3’->5’ double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch- containing DNA tracts directed by strand breaks located either 5’ or 3’ to the mismatch. Also exhibits endonuclease activity against 5’-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5’-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. E [...] (846 aa) | |||
MAN1B1 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2) (699 aa) | |||
PPCS | Phosphopantothenate--cysteine ligase; Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4’- phosphopantothenate to form 4-phosphopantothenoylcysteine; Belongs to the PPC synthetase family (311 aa) | |||
SF3A3 | Splicing factor 3A subunit 3; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex; U2 small nucleolar ribonucleoprotein (501 aa) | |||
TP53BP1 | TP53-binding protein 1; Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs si [...] (1977 aa) | |||
XRCC5 | X-ray repair cross-complementing protein 5; Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3’-5’ direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic s [...] (732 aa) | |||
SPOP | Speckle-type POZ protein; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of H2AFY and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-base [...] (374 aa) | |||
PPP6R3 | Serine/threonine-protein phosphatase 6 regulatory subunit 3; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance; Belongs to the SAPS family (879 aa) | |||
IRF7 | Interferon regulatory factor 7; Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88- independent pathway and the TLR-activated, MyD88-dependent [...] (516 aa) | |||
ENSG00000160200 | Cystathionine-beta-synthase (551 aa) | |||
CBSL | Cystathionine beta-synthase-like protein; Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L- homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (551 aa) | |||
ANKRD28 | Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation; Ankyrin repeat domain containing (1053 aa) | |||
RBM33 | RNA-binding protein 33; RNA binding motif containing (1170 aa) | |||
NOLC1 | Nucleolar and coiled-body phosphoprotein 1; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification- following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification. Involved in nucleologenesis, possibly [...] (709 aa) | |||
SSB | Lupus La protein; Binds to the 3’ poly(U) terminus of nascent RNA polymerase III transcripts, protecting them from exonuclease digestion and facilitating their folding and maturation. In case of Coxsackievirus B3 infection, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation; La ribonucleoprotein domain containing (408 aa) | |||
PPP6R1 | Serine/threonine-protein phosphatase 6 regulatory subunit 1; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6- mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha (881 aa) | |||
SMYD3 | Histone-lysine N-methyltransferase SMYD3; Histone methyltransferase. Specifically methylates ’Lys- 4’ of histone H3, inducing di- and tri-methylation, but not monomethylation. Also methylates ’Lys-5’ of histone H4. Plays an important role in transcriptional activation as a member of an RNA polymerase complex. Binds DNA containing 5’- CCCTCC-3’ or 5’-GAGGGG-3’ sequences; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family (369 aa) | |||
EXOC3 | Exocyst complex component 3; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane (745 aa) | |||
PPP6R2 | Serine/threonine-protein phosphatase 6 regulatory subunit 2; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6- mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha; Belongs to the SAPS family (959 aa) |