Summary for peptidase M12.301: procollagen I N-peptidase

Summary Alignment Tree Sequences Sequence features Distribution Literature Human EST Mouse EST Substrates Inhibitors

 

Names
MEROPS Nameprocollagen I N-peptidase
Other namesADAMTS2 g.p. (Homo sapiens), ADAMTS-3 (Tang), procollagen III N-peptidase
Domain architecture
MEROPS Classification
Classification Clan MA >> Subclan MA(M) >> Family M12 >> Subfamily B >> M12.301
Holotypeprocollagen I N-peptidase (Bos taurus), Uniprot accession P79331 (peptidase unit: 255-464), MERNUM MER0002829
History Identifier created: Handbook of Proteolytic Enzymes (1998) Academic Press, London.
Activity
Catalytic typeMetallo
PeplistIncluded in the Peplist with identifier PL00200
NC-IUBMBSubclass 3.4 (Peptidases) >> Sub-subclass 3.4.24 (Metalloendopeptidases) >> Peptidase 3.4.24.14
EnzymologyBRENDA database
Proteolytic eventsCutDB database (2 cleavages)
Activity statushuman: active (Colige, 2004)
mouse: active (Li et al., 2001)
PhysiologyRemoves N-terminal propeptide in maturation of types I and II procollagen prior to deposition in extracellular matrix. Activity is reduced in Ehlers-Danlos syndrome VIIC.
KnockoutNaturally-occurring deficiency of this enzyme leads to human Ehlers-Danlos syndrome (EDS) type VIIC, a recessively-inherited connective-tissue disorder, characterized by extreme skin fragility, joint laxity, droopy skin, umbilical hernia, and blue sclera. Similar conditions are known in other mammals (Colige et al., 1999).
Transgenic mice deficient in this enzyme were grossly normal at birth, but after 1-2 months they developed thin skin that tore after gentle handling. Much of the collagen in skin and cartilage was slowly processed, despite the deficiency of this enzyme. Female homozygous mice were fertile, but male mice were sterile with a marked decrease in testicular sperm (Li et al., 2001).
Other databases TREEFAMhttp://www.treefam.org/family/TF313537
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
ADAMTS2 5q23-q24 ENSG00000087116 9509 ADAMTS2 604539
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
Adamts2 11:B1.3 ENSMUSG00000036545 216725 MGI:1347356