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DHODH | dihydroorotate dehydrogenase (quinone); Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor (395 aa) | |||
SLC25A11 | solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11; Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism (314 aa) | |||
HDAC5 | histone deacetylase 5; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors (1123 aa) | |||
MRPL34 | mitochondrial ribosomal protein L34 (92 aa) | |||
RAPGEF2 | Rap guanine nucleotide exchange factor (GEF) 2; Guanine nucleotide exchange factor (GEF) for Rap1A, Rap1B and Rap2B GTPases. Does not interact with cAMP or cGMP (1499 aa) | |||
MRPL13 | mitochondrial ribosomal protein L13 (178 aa) | |||
MRPL11 | mitochondrial ribosomal protein L11 (192 aa) | |||
CAMKK2 | calcium/calmodulin-dependent protein kinase kinase 2, beta (588 aa) | |||
SUZ12 | suppressor of zeste 12 homolog (Drosophila); Polycomb group (PcG) protein. Component of the PRC2/EED- EZH2 complex, which methylates ’Lys-9’ (H3K9me) and ’Lys-27’ (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A (739 aa) | |||
UBC | ubiquitin C (685 aa) | |||
BABAM1 | BRISC and BRCA1 A complex member 1; Component of the BRCA1-A complex, a complex that specifically recognizes ’Lys-63’-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes ’Lys-63’-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Probably also plays a role as a component of the BRISC complex, a multiprote [...] (329 aa) | |||
CLN3 | ceroid-lipofuscinosis, neuronal 3 (438 aa) | |||
MRPL24 | mitochondrial ribosomal protein L24 (216 aa) | |||
RNF2 | ring finger protein 2; E3 ubiquitin-protein ligase that mediates monoubiquitination of ’Lys-119’ of histone H2A, thereby playing a central role in histone code and gene regulation. H2A ’Lys-119’ ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, includ [...] (336 aa) | |||
SDHC | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa; 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) (169 aa) | |||
UBL4A | ubiquitin-like 4A; Component of the BAT3 complex, a multiprotein complex involved in the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region. The complex acts by facilitating TA proteins capture by ASNA1/TRC40- it is recruited to ribosomes synthesizing membrane proteins, interacts with the transmembrane region of newly released TA proteins, and transfers them to ASNA1/TRC40 for targeting (157 aa) | |||
DPYD | dihydropyrimidine dehydrogenase (1025 aa) | |||
STAU1 | staufen, RNA binding protein, homolog 1 (Drosophila) (577 aa) | |||
BMI1 | BMI1 polycomb ring finger oncogene; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ’Lys-119’, rendering chromatin heritably changed in its expressibility. In the PRC1 complex, it is required to stimulate the E3 ubiquitin-protein ligase activity of RNF2/RING2 (326 aa) | |||
MRPL2 | mitochondrial ribosomal protein L2 (305 aa) | |||
FBXW4 | F-box and WD repeat domain containing 4; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling (412 aa) | |||
MRPL19 | mitochondrial ribosomal protein L19 (292 aa) | |||
FBXO46 | F-box protein 46; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity) (603 aa) | |||
CEBPA | CCAAT/enhancer binding protein (C/EBP), alpha; C/EBP is a DNA-binding protein that recognizes two different motifs- the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers (358 aa) | |||
MRPL22 | mitochondrial ribosomal protein L22 (206 aa) | |||
MDH1 | malate dehydrogenase 1, NAD (soluble) (352 aa) |