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ATP6V1B1 | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (513 aa) | |||
AMOTL2 | angiomotin like 2; Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC (780 aa) | |||
NIP7 | nuclear import 7 homolog (S. cerevisiae); Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly (180 aa) | |||
GPN1 | GPN-loop GTPase 1; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. May be involved in nuclear localization of XPA (388 aa) | |||
ATP6V1B2 | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (511 aa) | |||
KBTBD5 | kelch repeat and BTB (POZ) domain containing 5 (621 aa) | |||
UBE2I | ubiquitin-conjugating enzyme E2I; Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3 and SUMO4 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2 or CBX4. Can catalyze the formation of poly- SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at ’Lys-386’ (By similarity) (158 aa) | |||
DGCR6 | DiGeorge syndrome critical region gene 6; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches (220 aa) | |||
UBC | ubiquitin C (685 aa) | |||
LRRC20 | leucine rich repeat containing 20 (184 aa) | |||
C1orf109 | chromosome 1 open reading frame 109 (203 aa) | |||
UCHL5 | ubiquitin carboxyl-terminal hydrolase L5; Protease that specifically cleaves ’Lys-48’-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1 (329 aa) | |||
UBE2A | ubiquitin-conjugating enzyme E2A; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at ’Lys-120’ to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes ’Lys-11’, as well as ’Lys-48’-linked polyubiquitination. Require [...] (152 aa) | |||
ATRX | alpha thalassemia/mental retardation syndrome X-linked (2492 aa) | |||
SSX2B | synovial sarcoma, X breakpoint 2B; Could act as a modulator of transcription (188 aa) | |||
FANCG | Fanconi anemia, complementation group G; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene (622 aa) | |||
SPEF1 | sperm flagellar 1 (236 aa) | |||
ZBED1 | zinc finger, BED-type containing 1; Binds to 5’-TGTCG[CT]GA[CT]A-3’ DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity (694 aa) | |||
RENBP | renin binding protein; Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway- although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (427 aa) | |||
PSAP | prosaposin (524 aa) | |||
KDM1A | lysine (K)-specific demethylase 1A (876 aa) | |||
TRAPPC2 | trafficking protein particle complex 2; Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi (174 aa) | |||
SUMO2 | SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae); Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduc [...] (95 aa) | |||
TRAPPC2P1 | trafficking protein particle complex 2 pseudogene 1; Prevents transcriptional repression and induction of cell death by ENO1. May play a role in vesicular transport from endoplasmic reticulum to Golgi (140 aa) | |||
TWF1 | twinfilin, actin-binding protein, homolog 1 (Drosophila) (357 aa) | |||
PIAS2 | protein inhibitor of activated STAT, 2; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Bin [...] (621 aa) |