ID:MMP13_HUMAN DESCRIPTION: RecName: Full=Collagenase 3; EC=3.4.24.-; AltName: Full=Matrix metalloproteinase-13; Short=MMP-13; Flags: Precursor; FUNCTION: Degrades collagen type I. Does not act on gelatin or casein. Could have a role in tumoral process. COFACTOR: Binds 4 calcium ions per subunit. COFACTOR: Binds 2 zinc ions per subunit. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (Probable). TISSUE SPECIFICITY: Seems to be specific to breast carcinomas. DOMAIN: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. DISEASE: Defects in MMP13 are the cause of 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. DISEASE: Defects in MMP13 are the cause of metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]. Metaphyseal anadysplasia consists of an abnormal bone development characterized by severe skeletal changes that, in contrast with the progressive course of most other skeletal dysplasias, 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. SIMILARITY: Belongs to the peptidase M10A family. SIMILARITY: Contains 4 hemopexin-like domains. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp13/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P45452
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
X75308 - H.sapiens mRNA for collagenase 3. AX930362 - Sequence 1 from Patent WO03087369. JD044880 - Sequence 25904 from Patent EP1572962. JD502608 - Sequence 483632 from Patent EP1572962. JD372903 - Sequence 353927 from Patent EP1572962. JD437841 - Sequence 418865 from Patent EP1572962. JD491268 - Sequence 472292 from Patent EP1572962. X81334 - H.sapiens mRNA for collagenase-3 protein. AK222748 - Homo sapiens mRNA for matrix metalloproteinase 13 preproprotein variant, clone: DMC05908. JD276907 - Sequence 257931 from Patent EP1572962. JD355836 - Sequence 336860 from Patent EP1572962. JD087461 - Sequence 68485 from Patent EP1572962. AK292211 - Homo sapiens cDNA FLJ78136 complete cds, highly similar to Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. JD516766 - Sequence 497790 from Patent EP1572962. BC067522 - Homo sapiens matrix metallopeptidase 13 (collagenase 3), mRNA (cDNA clone MGC:79422 IMAGE:7002184), complete cds. BC067523 - Homo sapiens matrix metallopeptidase 13 (collagenase 3), mRNA (cDNA clone MGC:79423 IMAGE:7002185), complete cds. BC074807 - Homo sapiens matrix metallopeptidase 13 (collagenase 3), mRNA (cDNA clone MGC:103924 IMAGE:30915315), complete cds. BC074808 - Homo sapiens matrix metallopeptidase 13 (collagenase 3), mRNA (cDNA clone MGC:104078 IMAGE:30915529), complete cds. AK315341 - Homo sapiens cDNA, FLJ96383, highly similar to Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. HQ258010 - Synthetic construct Homo sapiens clone IMAGE:100072319 matrix metallopeptidase 13 (collagenase 3) (MMP13) (MMP13) gene, encodes complete protein. KJ891629 - Synthetic construct Homo sapiens clone ccsbBroadEn_01023 MMP13 gene, encodes complete protein. KR711440 - Synthetic construct Homo sapiens clone CCSBHm_00023554 MMP13 (MMP13) mRNA, encodes complete protein. AY256443 - Homo sapiens collagenase-3 splice variant COL3-9B-2 mRNA, complete cds. AY256444 - Homo sapiens collagenase-3 deletion variant COL3-DEL mRNA, complete cds.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P45452 (Reactome details) participates in the following event(s):
R-HSA-1604732 Autocatalytic activation of proMMP13 R-HSA-1602488 Initial activation of proMMP13 by plasmin and trypsin R-HSA-1604741 Initial activation of proMMP13 by MMP14 (MT1-MMP) R-HSA-1604752 Initial activation of proMMP13 by MMP3 R-HSA-1454781 MMP1,3,13 (2, 7-12, 19) binding by Alpha-2 macroglubulin R-HSA-8942302 MMP13 cleaves OPTC R-HSA-1454822 Collagen type I degradation by MMP1,2,8,13, PRSS2 R-HSA-1474197 Collagen type II degradation by MMP1,3,8,13,PRSS2 R-HSA-1474213 Collagen type III degradation by MMP1,8,9,13 R-HSA-1564184 Collagen type IX degradation by MMP3,13 R-NUL-2482219 Collagen type IX degradation R-HSA-1564117 Collagen type XIV degradation by MMP9,13 R-NUL-2484948 Collagen XIV degradation R-HSA-2168923 Collagen type XVIII endostatin release R-NUL-2484854 Collagen type X degradation by MMP3, 13 R-HSA-2484882 Collagen type X degradation by MMP3, 13 R-HSA-2485148 Fibrillin 1, 2,(3) degradation by MMP2, 9, 12 and 13 R-HSA-1566981 Fibronectin degradation by MMP1, 3, 7, 12, 13, 19, CTSS R-HSA-2534160 HSPG2 (perlecan) degradation by MMP13, CTSS R-HSA-3791149 Brevican degradation by MMP1, 2, 3, 7,8,10,13,19 R-HSA-3791295 Aggrecan degradation by MMP1,2,3,7,9,12,13 R-NUL-3814821 Aggrecan degradation by MMP1,2,3,7,9,12,13 R-HSA-1592436 Initial activation of proMMP9 by MMPs R-HSA-1604690 Activation of MMP9 intermediate form by MMPs R-HSA-2213200 Release of endostatin-like peptides R-HSA-1566979 Laminin-332 degradation by laminin-322 degrading extracellular proteinases R-HSA-1592389 Activation of Matrix Metalloproteinases R-HSA-8941332 RUNX2 regulates genes involved in cell migration R-HSA-1474228 Degradation of the extracellular matrix R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-1442490 Collagen degradation R-HSA-1474244 Extracellular matrix organization R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-212436 Generic Transcription Pathway R-HSA-1474290 Collagen formation R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
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Common Gene Haplotype Alleles 
