Family

Matrilin 3 (IPR030765)

Short name: Matrilin_3

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Matrilin family consists of four non-collagenous extracellular matrix (ECM) proteins [PMID: 10367731]. Matrilin-1 and matrilin-3 are expressed mainly in cartilage, while matrilin-2 and matrilin-4 are widely distributed in many connective tissues [PMID: 12009334]. Typical matrilin has the similar domain structure with two von Willebrand factor A-like (VWA) domains interconnected by a variable number of epidermal growth factor-like (EGF) domains. The subunits form trimers or tetramers via a C-terminal alpha-helical coiled-coil domain [PMID: 21163365].

Matrilin-3 has a modular structure comprising a von Willebrand factor A (vWFA) domain (A-domain), four epidermal growth factor (EGF)-like domains and a coiled-coil domain, which facilitates oligomerisation [PMID: 9287130]. Mutations in the A-domain of matrilin-3 result in multiple epiphyseal dysplasia, a disorder characterised by irregular bone growth and early onset osteoarthritis [PMID: 17881354]. Matrilin-3 plays a role in chondrocyte differentiation [PMID: 16877353, PMID: 25518444, PMID: 24934313] and is a bone morphogenetic protein-2 antagonist [PMID: 25331953].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER