Entrez Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
TSP 1
ADAM spacer1
PLAC
GO Terms
microfibril binding
lobar bronchus epithelium development
lobar bronchus development
bronchus development
lung epithelium development
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of cellular response to transforming growth factor beta stimulus
peptidase activity
regulation of transforming growth factor beta receptor signaling pathway
regulation of cellular response to transforming growth factor beta stimulus
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
negative regulation of cellular response to growth factor stimulus
lung development
respiratory tube development
respiratory system development
extracellular matrix
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway
regulation of cellular response to growth factor stimulus
extracellular matrix organization
extracellular structure organization
tube development
epithelium development
negative regulation of signal transduction
proteolysis
negative regulation of cell communication
negative regulation of signaling
negative regulation of response to stimulus
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)