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| SPATA20 | Spermatogenesis-associated protein 20; May play a role in fertility regulation (802 aa) | |||
| SNTA1 | Alpha-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity); PDZ domain containing (505 aa) | |||
| PARD6A | Partitioning defective 6 homolog alpha; Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization; Belongs to the PAR6 family (346 aa) | |||
| TAX1BP3 | Tax1-binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6 (124 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) | |||
| PEPD | Xaa-Pro dipeptidase; Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen; Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily (493 aa) | |||
| COX6B1 | Cytochrome c oxidase subunit 6B1; Connects the two COX monomers into the physiological dimeric form; Mitochondrial complex IV- cytochrome c oxidase subunits (86 aa) | |||
| ATXN10 | Ataxin-10; Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis; Armadillo-like helical domain containing (475 aa) | |||
| SCO1 | Protein SCO1 homolog, mitochondrial; Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX; Belongs to the SCO1/2 family (301 aa) | |||
| GNS | N-acetylglucosamine-6-sulfatase; Glucosamine-6-sulfatase; Belongs to the sulfatase family (552 aa) | |||
| COQ9 | Ubiquinone biosynthesis protein COQ9, mitochondrial; Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7 (318 aa) | |||
| C21orf33 | ES1 protein homolog, mitochondrial; Glutamine amidotransferase like class 1 domain containing (268 aa) | |||
| KCNJ3 | G protein-activated inward rectifier potassium channel 1; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating t [...] (501 aa) | |||
| MVD | Diphosphomevalonate decarboxylase; Performs the first committed step in the biosynthesis of isoprenes (400 aa) | |||
| C19orf70 | MICOS complex subunit MIC13; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MINOS1/MIC10 into the MICOS complex (118 aa) | |||
| SFXN1 | Sideroflexin-1; Might be involved in the transport of a component required for iron utilization into or out of the mitochondria; Sideroflexins (322 aa) | |||
| GLS | Glutaminase kidney isoform, mitochondrial; Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate in the brain. Isoform 2 lacks catalytic activity; Ankyrin repeat domain containing (669 aa) | |||
| EIF5A | Eukaryotic translation initiation factor 5A-1; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF- alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an impor [...] (184 aa) | |||
| MRPL43 | Mitochondrial ribosomal protein L43 (235 aa) | |||
| METTL20 | Electron transfer flavoprotein beta subunit lysine methyltransferase; Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria. Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain (262 aa) | |||
| CFAP45 | Cilia and flagella associated protein 45; Belongs to the CFAP45 family (551 aa) | |||
| FZR1 | Fizzy-related protein homolog; Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint- its dephosphorylation and [...] (496 aa) | |||
| ATCAY | Caytaxin; Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites; BCH domain containing (371 aa) | |||
| COX4I1 | Cytochrome c oxidase subunit 4 isoform 1, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport (169 aa) | |||
| UNK | RING finger protein unkempt homolog; Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes; Zinc fingers CCCH-type (810 aa) | |||
| SIRT5 | NAD-dependent protein deacylase sirtuin-5, mitochondrial; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting- acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Modulates ketogenesis through the desuccinyl [...] (310 aa) | |||
