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WASL | Wiskott-Aldrich syndrome-like; Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex. Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression (505 aa) | |||
NCK2 | NCK adaptor protein 2; Adapter protein which associates with tyrosine- phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1- dependent transcriptional activation in response to activated Ras signaling (380 aa) | |||
PLCG1 | phospholipase C, gamma 1; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand- mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration (1291 aa) | |||
PISD | phosphatidylserine decarboxylase (375 aa) | |||
IQGAP1 | IQ motif containing GTPase activating protein 1; Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth (1657 aa) | |||
SPG7 | spastic paraplegia 7 (pure and complicated autosomal recessive); Putative ATP-dependent zinc metalloprotease (795 aa) | |||
AFG3L2 | AFG3 ATPase family member 3-like 2 (S. cerevisiae); ATP-dependent protease which is essential for axonal development (By similarity) (797 aa) | |||
FARS2 | phenylalanyl-tRNA synthetase 2, mitochondrial; Catalyzes direct attachment of p-Tyr (Tyr) to tRNAPhe. Permits also, with a lower efficiency, the attachment of m-Tyr to tRNAPhe, thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins (451 aa) | |||
NCK1 | NCK adaptor protein 1; Adapter protein which associates with tyrosine- phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA (377 aa) | |||
COX18 | cytochrome c oxidase assembly homolog 18 (yeast); Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of the C-terminal part of the COX2 protein into the mitochondrial intermembrane space (333 aa) | |||
XRCC6BP1 | XRCC6 binding protein 1 (246 aa) | |||
ATAD3B | ATPase family, AAA domain containing 3B; May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes (648 aa) | |||
YME1L1 | YME1-like 1 (S. cerevisiae); Putative ATP-dependent protease which plays a role in mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins. Requires to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1). Seems to act in the processing of OPA1 (773 aa) | |||
GRB2 | growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway (217 aa) | |||
UBC | ubiquitin C (685 aa) | |||
FYN | FYN oncogene related to SRC, FGR, YES; Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motilit [...] (537 aa) | |||
KIRREL | kin of IRRE like (Drosophila); Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity) (757 aa) | |||
BCS1L | BC1 (ubiquinol-cytochrome c reductase) synthesis-like; Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex (419 aa) | |||
CD2AP | CD2-associated protein; Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. May play a role in receptor clustering and cytoskeletal polarity in the junction between T- cell and antigen-presenting cell. May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (639 aa) | |||
MT-CO2 | mitochondrially encoded cytochrome c oxidase II; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1 (By similarity) (227 aa) | |||
NPHS2 | nephrosis 2, idiopathic, steroid-resistant (podocin); Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton (383 aa) | |||
LRRC47 | leucine rich repeat containing 47 (583 aa) | |||
NPHS1 | nephrosis 1, congenital, Finnish type (nephrin); Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity) (1241 aa) | |||
SH3KBP1 | SH3-domain kinase binding protein 1; Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through a association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by intera [...] (665 aa) | |||
KIRREL3 | kin of IRRE like 3 (Drosophila); Could be involved in the hematopoietic supportive capacity of stroma cells (By similarity) (778 aa) | |||
TRIAP1 | TP53 regulated inhibitor of apoptosis 1; Mediates cell survival by inhibiting activation of caspase-9 which prevents induction of apoptosis (76 aa) |