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RB1CC1 | RB1-inducible coiled-coil 1; Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111. Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double- membrane structure that surrounds the Salmonella-containing vacuole (SCV) duting S.typhimurium infection and subsequent xenophagy. Autophagy positively regulates repair of DNA damage induced by ionizing radiation and negatively regulates apoptosis. Plays an indispensib [...] (1594 aa) | |||
CCDC53 | coiled-coil domain containing 53; Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting (194 aa) | |||
SMARCB1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; Core component of the BAF (hSWI/SNF) complex. This ATP- dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric st [...] (385 aa) | |||
TP53 | tumor protein p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression (By similarity) (393 aa) | |||
SH3GL1 | SH3-domain GRB2-like 1; Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity) (368 aa) | |||
LONP2 | lon peptidase 2, peroxisomal; ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1 (852 aa) | |||
WDR41 | WD repeat domain 41 (459 aa) | |||
RPTOR | regulatory associated protein of MTOR, complex 1; Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1- mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signa [...] (1335 aa) | |||
SLC22A18 | solute carrier family 22, member 18; May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney (424 aa) | |||
RBMXL1 | RNA binding motif protein, X-linked-like 1; RNA-binding protein which may be involved in pre-mRNA splicing (By similarity) (390 aa) | |||
ULK1 | unc-51-like kinase 1 (C. elegans); Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3- kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy- acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading [...] (1050 aa) | |||
C12orf44 | chromosome 12 open reading frame 44; Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation (218 aa) | |||
ATG5 | autophagy related 5; Required for autophagy. Conjugates to ATG12 and associates with isolation membrane to form cup-shaped isolation membrane and autophagosome. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity) (275 aa) | |||
UBC | ubiquitin C (685 aa) | |||
HNRNPA2B1 | heterogeneous nuclear ribonucleoprotein A2/B1; Involved with pre-mRNA processing. Forms complexes (ribonucleosomes) with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus (353 aa) | |||
MAP1LC3C | microtubule-associated protein 1 light chain 3 gamma; Probably involved in formation of autophagosomal vacuoles (autophagosomes) (By similarity) (147 aa) | |||
TRIM33 | tripartite motif containing 33; Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed-16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts as a [...] (1127 aa) | |||
MTOR | mechanistic target of rapamycin (serine/threonine kinase); Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initi [...] (2549 aa) | |||
NFS1 | NFS1 nitrogen fixation 1 homolog (S. cerevisiae); Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron- sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor (457 aa) | |||
C9orf72 | chromosome 9 open reading frame 72 (481 aa) | |||
ATG16L1 | autophagy related 16-like 1 (S. cerevisiae) (607 aa) | |||
MLST8 | MTOR associated protein, LST8 homolog (S. cerevisiae) (326 aa) | |||
C6orf170 | chromosome 6 open reading frame 170; Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity) (1257 aa) | |||
SMCR8 | Smith-Magenis syndrome chromosome region, candidate 8 (937 aa) | |||
HSBP1 | heat shock factor binding protein 1; Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process (76 aa) | |||
ATG13 | autophagy related 13; Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1- RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation (550 aa) |