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SRSF6 | Serine/arginine-rich splicing factor 6; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing; Belongs to the splicing factor SR family (344 aa) | |||
ATXN1 | Ataxin-1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. In concert with CIC and ATXN1L, involved in brain development (By similarity) (815 aa) | |||
STX6 | Syntaxin-6; Involved in intracellular vesicle trafficking; Syntaxins (255 aa) | |||
VPS26B | Vacuolar protein sorting-associated protein 26B; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for carg [...] (336 aa) | |||
VPS35 | Vacuolar protein sorting-associated protein 35; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may [...] (796 aa) | |||
STX8 | Syntaxin-8; Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER; Belongs to the syntaxin family (236 aa) | |||
PSAPL1 | Proactivator polypeptide-like 1; May activate the lysosomal degradation of sphingolipids (521 aa) | |||
PSMD4 | 26S proteasome non-ATPase regulatory subunit 4; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin- [...] (377 aa) | |||
NGF | Beta-nerve growth factor; Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades through those receptor tyrosine kinase to regulate neuronal proliferation, differentiation and survival. Inhibits metalloproteinase dependent proteolysis of platelet glycoprotein VI; Neurotrophins (241 aa) | |||
SORCS3 | Sortilin related VPS10 domain containing receptor 3; Belongs to the VPS10-related sortilin family. SORCS subfamily (1222 aa) | |||
ALDH18A1 | Delta-1-pyrroline-5-carboxylate synthase; Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine (795 aa) | |||
VPS26A | Vacuolar protein sorting-associated protein 26A; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for carg [...] (327 aa) | |||
SRSF4 | Serine/arginine-rich splicing factor 4; Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10; RNA binding motif containing (494 aa) | |||
PQLC2 | Lysosomal amino acid transporter 1 homolog; Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes (291 aa) | |||
SF1 | Splicing factor 1; Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5’-UACUAAC-3’ of the pre-mRNA. May act as transcription repressor; Spliceosomal A complex (673 aa) | |||
PSAP | Prosaposin; Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases; Endogenous ligands (524 aa) | |||
PQLC1 | PQ-loop repeat-containing protein 1; PQ loop repeat containing 1 (271 aa) | |||
RBM33 | RNA-binding protein 33; RNA binding motif containing (1170 aa) | |||
CLHC1 | Clathrin heavy chain linker domain containing 1 (586 aa) | |||
SFTPB | Pulmonary surfactant-associated protein B; Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter (393 aa) | |||
PSMA1 | Proteasome subunit alpha type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] (269 aa) | |||
CLTCL1 | Clathrin heavy chain 2; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity) (1640 aa) | |||
SRSF5 | Serine/arginine-rich splicing factor 5; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites; RNA binding motif containing (272 aa) | |||
STX10 | Syntaxin-10; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network; Belongs to the syntaxin family (249 aa) | |||
CLTC | Clathrin heavy chain 1; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch- TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter- microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. Plays a role in early autophagosome formation; Belongs to the clathrin heavy chain [...] (1679 aa) | |||
VPS29 | Vacuolar protein sorting-associated protein 29; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo [...] (214 aa) |