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Immunogen sequence: ITQTFKDQGL EVLKQETAVV ENVPILGLYQ IPAEGGGRIV LYGDSNCLDD SHRQKDCFWL LDALLQYTSY GVTPPSLSHS GNRQRPPSGA GSVTPERMEG NHLHRYSKVL EAHLGDPKPR PLPACPRLSW AKPQPLNETA PSNLWKHQKL LSIDLDKVVL PNFRSNRPQV RPLSPGESGA WDIPGGIMPG RYNQEVGQTI PVFAFLGAMV VLAFFVVQIN KAKSRPKRRK PRVKRPQLMQ QVHPPKTPSV
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.
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Protein Aliases: Endopeptidase S1P; membrane-bound transcription factor peptidase, site 1; membrane-bound transcription factor protease, site 1; Membrane-bound transcription factor site-1 protease; proprotein convertase subtilisin/kexin type 8; S1P endopeptidase; site-1 protease; SKI-1; Sterol-regulated luminal protease; subtilisin kexin isozyme 1; Subtilisin/kexin isozyme 1; subtilisin/kexin isozyme SKI-1; subtilisin/kexin isozyme-1; Subtilisin/kexin-isozyme 1
Gene Aliases: 0610038M03Rik; AV003995; KIAA0091; MBTPS1; mKIAA0091; PCSK8; S1P; SKI-1; SKI1
UniProt ID: (Human) Q14703, (Mouse) Q9WTZ2
Entrez Gene ID: (Human) 8720, (Mouse) 56453
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