LMPD Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP006777

UniProt Annotations

Entry Information
Gene Namemembrane-bound transcription factor peptidase, site 2
Protein EntryMBTP2_HUMAN
UniProt IDO43462
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCleaves several transcription factors that are type-2 transmembrane proteins within membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2 and forms of the transcriptional activator ATF6. SREBP-2 is cleaved at the site 477-DRSRILL-|- CVLTFLCLSFNPLTSLLQWGGA-505. The residues Asn-Pro, 11 residues distal to the site of cleavage in the membrane-spanning domain, are important for cleavage by S2P endopeptidase. Replacement of either of these residues does not prevent cleavage, but there is no cleavage if both of these residues are replaced.
CofactorName=Zn(2+); Xref=ChEBI
DiseaseIFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM
DiseaseKeratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM
DiseaseOlmsted syndrome, X-linked (OLMSX) [MIM
FunctionIntramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.
SimilarityBelongs to the peptidase M50A family.
Subcellular LocationMembrane ; Multi-pass membrane protein . Cytoplasm .
Tissue SpecificityExpressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.