Homo sapiens Protein: MMP13 | |||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00413
PF01471 PF00045 |
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PRINTS |
PR00138
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PIRSF |
PIRSF001191
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SMART |
SM00235
SM00120 |
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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 | ||||||||||||||||||||||