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VPS18 | vacuolar protein sorting 18 homolog (S. cerevisiae); May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes (973 aa) | |||
MON1B | MON1 homolog B (yeast) (547 aa) | |||
TGFBRAP1 | transforming growth factor, beta receptor associated protein 1; Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2 (860 aa) | |||
STX17 | syntaxin 17; SNAREs, Soluble N-ethylmaleimide-sensitive factor- attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane. May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum-Golgi intermediat [...] (302 aa) | |||
UTP20 | UTP20, small subunit (SSU) processome component, homolog (yeast); Involved in 18S pre-rRNA processing. Associates with U3 snoRNA (2785 aa) | |||
PCSK2 | proprotein convertase subtilisin/kexin type 2 (638 aa) | |||
SUCO | SUN domain containing ossification factor; Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity) (1254 aa) | |||
RAB7A | RAB7A, member RAS oncogene family; Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient- transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in [...] (207 aa) | |||
VPS33A | vacuolar protein sorting 33 homolog A (S. cerevisiae); May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes (By similarity) (596 aa) | |||
FURIN | furin (paired basic amino acid cleaving enzyme); Furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(K/R)R consensus motif (794 aa) | |||
CXorf48 | chromosome X open reading frame 48 (264 aa) | |||
MON1A | MON1 homolog A (yeast); Plays an important in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity) (652 aa) | |||
PCSK4 | proprotein convertase subtilisin/kexin type 4; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Plays a role in transcriptional coactivation. May be involved in stabilizing the multiprotein transcription complex (755 aa) | |||
PCSK6 | proprotein convertase subtilisin/kexin type 6 (968 aa) | |||
BPTF | bromodomain PHD finger transcription factor; Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on ’Lys-4’ (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors (2920 aa) | |||
PCSK1 | proprotein convertase subtilisin/kexin type 1; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin (753 aa) | |||
CLTB | clathrin, light chain B; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles (229 aa) | |||
VPS41 | vacuolar protein sorting 41 homolog (S. cerevisiae); Required for vacuolar assembly and vacuolar traffic (854 aa) | |||
PCSK7 | proprotein convertase subtilisin/kexin type 7; Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif (785 aa) | |||
VPS39 | vacuolar protein sorting 39 homolog (S. cerevisiae); May play a role in clustering and fusion of late endosomes and lysosomes. Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2-dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation (875 aa) | |||
VPS33B | vacuolar protein sorting 33 homolog B (yeast); May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages (617 aa) | |||
XRCC4 | X-ray repair complementing defective repair in Chinese hamster cells 4; Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends (336 aa) | |||
AP3D1 | adaptor-related protein complex 3, delta 1 subunit; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (1153 aa) | |||
VPS16 | vacuolar protein sorting 16 homolog (S. cerevisiae); May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes (839 aa) | |||
PCSK5 | proprotein convertase subtilisin/kexin type 5; Likely to represent a widespread endoprotease activity within the constitutive and regulated secretory pathway. Capable of cleavage at the RX(K/R)R consensus motif. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha- integrins (1860 aa) | |||
ENSG00000256861 | Uncharacterized protein (538 aa) |