Protein Name membrane bound transcription factor peptidase, site 1
Organism Homo sapiens
Gene ID 8720
Gene Symbol

MBTPS1

UniProt Q14703 (MBTP1_HUMAN)
Relationships Total Number of functionally related compound(s) : 113
Total Number of Articles : 130
Description

membrane bound transcription factor peptidase, site 1

Gene Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

synonyms
  • membrane-bound transcription factor site-1 protease
  • endopeptidase S1P
  • proprotein convertase subtilisin/kexin type 8
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Properties