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    MMP13 matrix metallopeptidase 13 [ Homo sapiens (human) ]

    Gene ID: 4322, updated on 8-May-2017
    Official Symbol
    MMP13provided by HGNC
    Official Full Name
    matrix metallopeptidase 13provided by HGNC
    Primary source
    HGNC:HGNC:7159
    See related
    Ensembl:ENSG00000137745 MIM:600108; Vega:OTTHUMG00000165850
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLG3; MDST; MANDP1; MMP-13
    Summary
    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]
    Orthologs
    Location:
    11q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (102942992..102955734, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102813721..102826463, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene bolA family member 3 pseudogene 1 Neighboring gene RNA, U7 small nuclear 159 pseudogene Neighboring gene ribosomal protein L21 pseudogene 96 Neighboring gene defective in cullin neddylation 1 domain containing 5

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Metaphyseal chondrodysplasia, Spahr type
    MedGen: C0432225 OMIM: 250400 GeneReviews: Not available
    Compare labs
    Spondyloepimetaphyseal dysplasia, Missouri type
    MedGen: C1865832 OMIM: 602111 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of matrix metallopeptidase 13 (collagenase 3; MMP13) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

    Go to the HIV-1, Human Interaction Database

    • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
      AGE/RAGE pathway, organism-specific biosystemAdvanced glycation end products (AGEs) are heterogeneous group of non-enzymatic malliard reaction products of aldose sugar with proteins and lipids. Formation of AGEs is an indicator of one of the ma...
    • Activation of Matrix Metalloproteinases, organism-specific biosystem (from REACTOME)
      Activation of Matrix Metalloproteinases, organism-specific biosystemThe matrix metalloproteinases (MMPs), previously known as matrixins, are classically known to be involved in the turnover of extracellular matrix (ECM) components. However, recent high throughput pro...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Collagen degradation, organism-specific biosystem (from REACTOME)
      Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • IL-17 signaling pathway, organism-specific biosystem (from KEGG)
      IL-17 signaling pathway, organism-specific biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
    • IL-17 signaling pathway, conserved biosystem (from KEGG)
      IL-17 signaling pathway, conserved biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
    • Matrix Metalloproteinases, organism-specific biosystem (from WikiPathways)
      Matrix Metalloproteinases, organism-specific biosystemMatrix metalloproteinases (MMPs) are zinc-dependent endopeptidases; other family members are adamalysins, serralysins, and astacins. The MMPs belong to a larger family of proteases known as the metzi...
    • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    bone morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    growth plate cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    collagenase 3
    Names
    matrix metalloproteinase 13 (collagenase 3)
    NP_002418.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021404.1 RefSeqGene

      Range
      5001..17743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002427.3NP_002418.1  collagenase 3 preproprotein

      See identical proteins and their annotated locations for NP_002418.1

      Status: REVIEWED

      Source sequence(s)
      AK222748, AK292211, CA413743, X75308
      Consensus CDS
      CCDS8324.1
      UniProtKB/Swiss-Prot
      P45452
      UniProtKB/TrEMBL
      Q53H33
      Related
      ENSP00000260302.3, OTTHUMP00000231260, ENST00000260302.7, OTTHUMT00000386648
      Conserved Domains (4) summary
      cd00094
      Location:281471
      HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
      cd04278
      Location:112267
      ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...
      pfam00413
      Location:112267
      Peptidase_M10; Matrixin
      pfam01471
      Location:3291
      PG_binding_1; Putative peptidoglycan binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      102942992..102955734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      102696655..102709340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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