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| MRPS35 | Mitochondrial ribosomal protein S35 (323 aa) | |||
| TRIP13 | Pachytene checkpoint protein 2 homolog; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for [...] (432 aa) | |||
| GCLC | Glutamate-cysteine ligase catalytic subunit (637 aa) | |||
| ATAD2B | ATPase family, AAA domain containing 2B (1458 aa) | |||
| ATP2B3 | Plasma membrane calcium-transporting ATPase 3; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting (1220 aa) | |||
| GALM | Aldose 1-epimerase; Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity) (342 aa) | |||
| SPATA5 | Spermatogenesis-associated protein 5; May be involved in morphological and functional mitochondrial transformations during spermatogenesis; Belongs to the AAA ATPase family. AFG2 subfamily (893 aa) | |||
| GLUD1 | Glutamate dehydrogenase 1, mitochondrial; Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity); Belongs to the Glu/Leu/Phe/Val dehydrogenases family (558 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) | |||
| AKR1E2 | 1,5-anhydro-D-fructose reductase; Catalyzes the NADPH-dependent reduction of 1,5-anhydro- D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10- phenanthrenequinone (in vitro) (320 aa) | |||
| GPD1 | Glycerol-3-phosphate dehydrogenase 1; Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family (349 aa) | |||
| SPATA5L1 | Spermatogenesis-associated protein 5-like protein 1; Spermatogenesis associated 5 like 1; Belongs to the AAA ATPase family. AFG2 subfamily (753 aa) | |||
| CKS1B | Cyclin-dependent kinases regulatory subunit 1; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function (79 aa) | |||
| PEX7 | Peroxisomal targeting signal 2 receptor; Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import; Belongs to the WD repeat peroxin-7 family (323 aa) | |||
| GLUD2 | Glutamate dehydrogenase 2, mitochondrial; Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission; Belongs to the Glu/Leu/Phe/Val dehydrogenases family (558 aa) | |||
| PPCDC | Phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4’- phosphopantotheine (204 aa) | |||
| ATP2B4 | Plasma membrane calcium-transporting ATPase 4; Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily (1205 aa) | |||
| VCP | Transitional endoplasmic reticulum ATPase; Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is neces [...] (806 aa) | |||
| ATP2B2 | Plasma membrane calcium-transporting ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting (1243 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) | |||
| CKS2 | Cyclin-dependent kinases regulatory subunit 2; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function (79 aa) | |||
| GALT | Galactose-1-phosphate uridylyltransferase; Plays an important role in galactose metabolism (379 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) | |||
| ATP2B1 | Plasma membrane calcium-transporting ATPase 1; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting (1220 aa) | |||
| ENSG00000258728 | Uncharacterized protein (280 aa) | |||
| GALE | UDP-glucose 4-epimerase; Catalyzes two distinct but analogous reactions- the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6- phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP- GalNAc when exogenous sources are limited. Both UDP-sugar interconver [...] (348 aa) | |||
