MMP13
Collagenase 3
Also known as: CLG3, MMP13_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P45452
- Gene
- MMP13
- Ensembl
- ENSG00000137745
- Chromosome
- 11
- Canonical length
- 471 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
Canonical amino-acid sequenceUniProt
471 residues, UniProt reviewed canonical sequence.
>P45452|MMP13
1 MHPGVLAAFL FLSWTHCRAL PLPSGGDEDD LSEEDLQFAE RYLRSYYHPT NLAGILKENA
61 ASSMTERLRE MQSFFGLEVT GKLDDNTLDV MKKPRCGVPD VGEYNVFPRT LKWSKMNLTY
121 RIVNYTPDMT HSEVEKAFKK AFKVWSDVTP LNFTRLHDGI ADIMISFGIK EHGDFYPFDG
181 PSGLLAHAFP PGPNYGGDAH FDDDETWTSS SKGYNLFLVA AHEFGHSLGL DHSKDPGALM
241 FPIYTYTGKS HFMLPDDDVQ GIQSLYGPGD EDPNPKHPKT PDKCDPSLSL DAITSLRGET
301 MIFKDRFFWR LHPQQVDAEL FLTKSFWPEL PNRIDAAYEH PSHDLIFIFR GRKFWALNGY
361 DILEGYPKKI SELGLPKEVK KISAAVHFED TGKTLLFSGN QVWRYDDTNH IMDKDYPRLI
421 EEDFPGIGDK VDAVYEKNGY IYFFNGPIQF EYSIWSNRIV RVMPANSILW CLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MMP13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 11 nTPM
Expression across tissuesHPA
Tissue
- urinary bladder: 11 nTPM
- lung: 0.8 nTPM
- blood vessel: 0.5 nTPM
- pituitary gland: 0.5 nTPM
- bone marrow: 0.3 nTPM
- vagina: 0.3 nTPM
Single-cell type
- respiratory basal cells: 4.6 nCPM
- basal prostatic cells: 3.3 nCPM
- gonadotrophs: 2.3 nCPM
- respiratory deuterosomal cells: 2.1 nCPM
- distal convoluted tubule cells: 2 nCPM
- basal keratinocytes: 1.9 nCPM
Immune cell
- basophil: 0.6 nTPM
- neutrophil: 0.2 nTPM
- NK-cell: 0.2 nTPM
- eosinophil: 0.1 nTPM
- gdT-cell: 0.1 nTPM
- MAIT T-cell: 0.1 nTPM
Brain region
- medulla oblongata: 0.9 nTPM
- hypothalamus: 0.8 nTPM
- pons: 0.8 nTPM
- white matter: 0.8 nTPM
- basal ganglia: 0.7 nTPM
- midbrain: 0.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MMP13.
Disease | AllUniProt
Conditions MMP13 is implicated in, by any mechanism.
- Spondyloepimetaphyseal dysplasia, Missouri type (SEMDM) MIM:602111
- Metaphyseal anadysplasia 1 (MANDP1) MIM:602111
- Metaphyseal dysplasia, Spahr type (MDST) MIM:250400
Disease | GeneticClinVar
31 pathogenic / likely-pathogenic of 390 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spondyloepimetaphyseal dysplasia, Missouri type
- Metaphyseal chondrodysplasia, Spahr type
- Metaphyseal anadysplasia 1, autosomal dominant
- MMP13-related disorder
- Lung cancer
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.52
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.21
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bone mineralization
- bone morphogenesis
- collagen catabolic process
- endochondral ossification
- extracellular matrix disassembly
- extracellular matrix organization
- growth plate cartilage development
- proteolysis
- response to amyloid-beta
Molecular functions
- calcium ion binding
- collagen binding
- endopeptidase activity
- metalloendopeptidase activity
- serine-type endopeptidase activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Hemopexin-like domain
- Peptidase M10, metallopeptidase
- Peptidoglycan binding-like
- Peptidase, metallopeptidase
- Hemopexin, conserved site
- Hemopexin-like repeats
- Peptidase M10A, cysteine switch, zinc binding site
- Peptidase M10A
- Metallopeptidase, catalytic domain superfamily
- Peptidase M10A, catalytic domain
- PGBD-like superfamily
- Hemopexin-like domain superfamily
- Hemopexin
- Matrixin
- Putative peptidoglycan binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MMP13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MMP13 as an antibody target. Whether an autoantibody or antibody against MMP13 could matter depends on whether native MMP13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MMP13 is annotated as secreted, so native MMP13 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label MMP13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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