Homo sapiens Protein: MMP13
Summary
InnateDB Protein IDBP-69329.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MMP13
Protein Name matrix metallopeptidase 13 (collagenase 3)
Synonyms CLG3; MANDP1; MMP-13;
Species Homo sapiens
Ensembl Protein ENSP00000260302
InnateDB Gene IDBG-69325 (MMP13)
Protein Structure
UniProt Annotation
Function Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CTGF. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CTGF. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion. {ECO:0000269PubMed:16167086, ECO:0000269PubMed:17623656, ECO:0000269PubMed:19422229, ECO:0000269PubMed:19615667, ECO:0000269PubMed:20726512, ECO:0000269PubMed:22689580, ECO:0000269PubMed:23810497, ECO:0000269PubMed:8207000, ECO:0000269PubMed:8576151, ECO:0000269PubMed:8603731, ECO:0000269PubMed:8663255, ECO:0000269PubMed:9065415}.
Subcellular Localization Secreted, extracellular space, extracellular matrix {ECO:0000305PubMed:8576151}. Secreted {ECO:0000269PubMed:8576151}.
Disease Associations Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. {ECO:0000269PubMed:16167086}. Note=The disease is caused by mutations affecting the gene represented in this entry.Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. {ECO:0000269PubMed:19615667}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in fetal cartilage and calvaria, in chondrocytes of hypertrophic cartilage in vertebrae and in the dorsal end of ribs undergoing ossification, as well as in osteoblasts and periosteal cells below the inner periosteal region of ossified ribs. Detected in chondrocytes from in joint cartilage that have been treated with TNF and IL1B, but not in untreated chondrocytes. Detected in T lymphocytes. Detected in breast carcinoma tissue. {ECO:0000269PubMed:8207000, ECO:0000269PubMed:8798568, ECO:0000269PubMed:9056642, ECO:0000269PubMed:9562863}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 4 [view]
Protein-DNA 8 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004222 metalloendopeptidase activity
GO:0005509 calcium ion binding
GO:0005518 collagen binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0001958 endochondral ossification
GO:0006508 proteolysis
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030282 bone mineralization
GO:0030574 collagen catabolic process
GO:0044267 cellular protein metabolic process
GO:0051216 cartilage development
GO:0060349 bone morphogenesis
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0031012 extracellular matrix
Protein Structure and Domains
PDB ID
InterPro IPR000585 Hemopexin-like domain
IPR001818 Peptidase M10, metallopeptidase
IPR002477 Peptidoglycan binding-like
IPR006026 Peptidase, metallopeptidase
IPR016293 Peptidase M10A, stromelysin-type
IPR018487 Hemopexin-like repeats
IPR021190 Peptidase M10A
PFAM PF00413
PF01471
PF00045
PRINTS PR00138
PIRSF PIRSF001191
SMART SM00235
SM00120
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P45452
PhosphoSite PhosphoSite-P45452
TrEMBL Q6LBE5
UniProt Splice Variant
Entrez Gene 4322
UniGene Hs.623032
RefSeq NP_002418
HUGO HGNC:7159
OMIM 600108
CCDS CCDS8324
HPRD 02522
IMGT
EMBL AK292211 AK315341 AY741163 BC067522 BC067523 BC074807 BC074808 X75308 X81334 X81640
GenPept AAH67522 AAH67523 AAH74807 AAH74808 AAU13907 BAF84900 BAG37740 CAA53056 CAA57108 CAA57296