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matrilin-3 (MATN3)
Function:
- major component of the extracellular matrix of cartilage
- may play a role in the formation of extracellular filamentous networks
- can form homooligomers (monomers, dimers, trimers & tetramers) & heterooligomers with matrilin-1 (putative)
- interacts with COMP
Structure:
- contains 4 EGF-like domains
- contains 1 VWFA domain
Compartment: secreted
Expression:
- expressed only in cartilagenous tissues, such as vertebrae, ribs & shoulders
Pathology:
- defects in MATN3 are the cause of
a) multiple epiphyseal dysplasia type 5
b) spondyloepimetaphyseal dysplasia MATN3-related
- genetic variations in MATN3 are associated with susceptibility to osteoarthritis type 2
General
matrilin
Properties
SIZE: entity length = 486 aa
MW = 53 kD
COMPARTMENT: extracellular matrix
MOTIF: signal sequence {1-28}
VWFA domain {83-258}
EGF domain {264-431} (4)
MOTIF: cysteine residue {C268}
MODIFICATION: cysteine residue {C279}
cysteine residue {C275}
MODIFICATION: cysteine residue {C289}
cysteine residue {C279}
MODIFICATION: cysteine residue {C268}
cysteine residue {C289}
MODIFICATION: cysteine residue {C275}
cysteine residue {C291}
MODIFICATION: cysteine residue {C304}
Tyr phosphorylation site {Y295}
cysteine residue {C304}
MODIFICATION: cysteine residue {C291}
coiled coil {456-480}
Database Correlations
OMIM correlations
MORBIDMAP 602109
UniProt O15232
PFAM correlations
Entrez Gene 4148
Kegg hsa:4148
References
- UniProt :accession O15232
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/MATN3