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| SKP1 | S-phase kinase-associated protein 1; Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC [...] (163 aa) | |||
| ABTB1 | Ankyrin repeat and BTB/POZ domain-containing protein 1; May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes; Ankyrin repeat domain containing (478 aa) | |||
| ATIC | Bifunctional purine biosynthesis protein PURH; Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis; Belongs to the PurH family (592 aa) | |||
| GDA | Guanine deaminase; Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia; Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family (471 aa) | |||
| ATAD2B | ATPase family, AAA domain containing 2B (1458 aa) | |||
| GRWD1 | Glutamate-rich WD repeat-containing protein 1; Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness; WD repeat domain containing (446 aa) | |||
| GMPR | GMP reductase 1; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides; Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily (345 aa) | |||
| PREB | Prolactin regulatory element-binding protein; Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitement of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER; WD repeat domain containing (417 aa) | |||
| MESDC2 | LRP chaperone MESD; Chaperone specifically assisting the folding of beta- propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell- surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By sim [...] (234 aa) | |||
| DNAJA3 | DnaJ homolog subfamily A member 3, mitochondrial; Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma- mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway; DNAJ heat shock proteins (480 aa) | |||
| PPAT | Amidophosphoribosyltransferase; Phosphoribosyl pyrophosphate amidotransferase; In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family (517 aa) | |||
| AMDHD1 | Probable imidazolonepropionase; Amidohydrolase domain containing 1 (426 aa) | |||
| NVL | Nuclear valosin-containing protein-like; Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT. May play a role in 60S ribosomal subunit biogenesis; Belongs to the AAA ATPase family (856 aa) | |||
| ADK | Adenosine kinase; ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides; Belongs to the carbohydrate kinase PfkB family (362 aa) | |||
| ADORA2B | Adenosine receptor A2b; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (332 aa) | |||
| RBKS | Ribokinase; Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5- phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway; Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily (322 aa) | |||
| BACE2 | Beta-secretase 2; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C- terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672 (518 aa) | |||
| SDHC | Succinate dehydrogenase cytochrome b560 subunit, mitochondrial; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q); Belongs to the cytochrome b560 family (169 aa) | |||
| APRT | Adenine phosphoribosyltransferase; Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis (180 aa) | |||
| NSF | Vesicle-fusing ATPase; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity); Belongs to the AAA ATPase family (744 aa) | |||
| ADAL | Adenosine deaminase-like protein; Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity) (328 aa) | |||
| DOHH | Deoxyhypusine hydroxylase; Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)- L-lysine intermediate to form hypusine, an essential post- translational modification only found in mature eIF-5A factor; Belongs to the deoxyhypusine hydroxylase family (302 aa) | |||
| ENSG00000272772 | Uncharacterized protein; Belongs to the SKP1 family (91 aa) | |||
| WDR18 | WD repeat-containing protein 18; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit; Belongs to the WD repeat IPI3/WDR18 family (432 aa) | |||
| PCID2 | PCI domain containing 2; Transcription and export complex 2 (453 aa) | |||
| ANKRD36B | Ankyrin repeat domain-containing protein 36B; Ankyrin repeat domain containing; Belongs to the ANKRD36 family (1353 aa) | |||
