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SPR | sepiapterin reductase (7,8-dihydrobiopterin-NADP+ oxidoreductase); Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin (261 aa) | |||
SBDS | Shwachman-Bodian-Diamond syndrome; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prol [...] (250 aa) | |||
SUGP1 | SURP and G patch domain containing 1; Plays a role in pre-mRNA splicing (645 aa) | |||
NDUFA2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (99 aa) | |||
SCO2 | SCO2 cytochrome c oxidase assembly protein; Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2) (266 aa) | |||
ASS1 | argininosuccinate synthase 1; Is indirectly involved in the control of blood pressure (By similarity) (412 aa) | |||
MRPL53 | mitochondrial ribosomal protein L53 (112 aa) | |||
PRKG2 | protein kinase, cGMP-dependent, type II (762 aa) | |||
PPM1G | protein phosphatase, Mg2+/Mn2+ dependent, 1G (546 aa) | |||
PTS | 6-pyruvoyltetrahydropterin synthase; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6- pyruvoyl tetrahydropterin (145 aa) | |||
QDPR | quinoid dihydropteridine reductase; The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases (244 aa) | |||
CRK | v-crk sarcoma virus CT10 oncogene homolog (avian); The Crk-I and Crk-II forms differ in their biological activities. Crk-II has less transforming activity than Crk-I. Crk- II mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4. May regulate the EFNA5-EPHA3 signaling (304 aa) | |||
CAMK2G | calcium/calmodulin-dependent protein kinase II gamma (556 aa) | |||
UBC | ubiquitin C (685 aa) | |||
RAD23B | RAD23 homolog B (S. cerevisiae); Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to 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. May play a role in endoplasmic reticulum- associated degradation (ERAD) of misfolded glycoproteins by association with PNGase and delivering deglycosylated proteins to the proteasome (409 aa) | |||
AHCYL1 | adenosylhomocysteinase-like 1 (530 aa) | |||
EXOSC1 | exosome component 1; Non-catalytic component of the RNA exosome complex which has 3’->5’ exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding ’pervasive’ transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The R [...] (195 aa) | |||
DHFR | dihydrofolate reductase; Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1 (187 aa) | |||
SRPRB | signal recognition particle receptor, B subunit; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity) (271 aa) |