DISEASES

Disease-gene associations mined from literature

Literature associating MBTPS1 and Crimean-Congo hemorrhagic fever

MBTPS1 [ENSP00000344223]

Membrane-bound transcription factor site-1 protease; Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes. Involved in the regulation of M6P-dependent Golgi-to- lysosome trafficking of lysosomal enzymes . It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation. Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking .

Synonyms:  MBTPS1,  MBTPS1p,  hMBTPS1,  A0A087WXJ6,  H3BS61 ...

Linkouts:  STRING  Pharos  UniProt  OMIM