Entrez Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].
UniProt Summary: Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis.
Pfam DomainsGO Terms
Pfam Domains
ADAM spacer1
Pep M12B propep
TSP 1
Reprolysin
GO Terms
collagen catabolic process
collagen fibril organization
metallopeptidase activity
collagen metabolic process
metalloendopeptidase activity
protein processing
lung development
respiratory tube development
respiratory system development
protein maturation
extracellular matrix organization
collagen-containing extracellular matrix
skin development
extracellular structure organization
supramolecular fiber organization
spermatogenesis
male gamete generation
gamete generation
multicellular organismal reproductive process
sexual reproduction
zinc ion binding
multicellular organism reproduction
tube development
multi-organism reproductive process
proteolysis
reproductive process
reproduction
protein-containing complex subunit organization
extracellular region
gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)