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RSPO4 | R-spondin 4; Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (By similarity) (234 aa) | |||
SETX | senataxin (2677 aa) | |||
DDX39A | DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A; Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus (427 aa) | |||
PCSK2 | proprotein convertase subtilisin/kexin type 2 (638 aa) | |||
FRAS1 | Fraser syndrome 1 (4012 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) | |||
JAZF1 | JAZF zinc finger 1; Potential transcription factor (243 aa) | |||
APP | amyloid beta (A4) precursor protein (770 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) | |||
HSPA4 | heat shock 70kDa protein 4 (840 aa) | |||
PCSK6 | proprotein convertase subtilisin/kexin type 6 (968 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) | |||
GGA2 | golgi-associated, gamma adaptin ear containing, ARF binding protein 2; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif (613 aa) | |||
BACE1 | beta-site APP-cleaving enzyme 1; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase (501 aa) | |||
HSPH1 | heat shock 105kDa/110kDa protein 1; Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity) (858 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) | |||
BACE2 | beta-site APP-cleaving enzyme 2; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C- terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672 (518 aa) | |||
RBPJL | recombination signal binding protein for immunoglobulin kappa J region-like; Putative transcription factor, which cooperates with EBNA2 to activate transcription (By similarity) (517 aa) | |||
GGA1 | golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (639 aa) | |||
RBPJ | recombination signal binding protein for immunoglobulin kappa J region; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of c [...] (500 aa) | |||
RSPO1 | R-spondin 1; Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination (263 aa) | |||
RSPO3 | R-spondin 3; Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (By similarity) (272 aa) | |||
DDX39B | DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (428 aa) | |||
ENSG00000223931 | annotation not available (97 aa) | |||
ENSG00000228325 | Uncharacterized protein (130 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) |