U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    MMP13 matrix metallopeptidase 13 [ Homo sapiens (human) ]

    Gene ID: 4322, updated on 23-Nov-2023

    Summary

    Official Symbol
    MMP13provided by HGNC
    Official Full Name
    matrix metallopeptidase 13provided by HGNC
    Primary source
    HGNC:HGNC:7159
    See related
    Ensembl:ENSG00000137745 MIM:600108; AllianceGenome:HGNC:7159
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MMP13 in Genome Data Viewer
    Location:
    11q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102942995..102955732, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102946765..102959501, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102813724..102826461, 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 BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093 Neighboring gene NANOG hESC enhancer GRCh37_chr11:102852196-102852783 Neighboring gene ribosomal protein L21 pseudogene 96 Neighboring gene defective in cullin neddylation 1 domain containing 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:102962009-102962626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:102962627-102963244

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI 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.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in collagen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in growth plate cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amyloid-beta TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    collagenase 3
    Names
    matrix metalloproteinase 13 (collagenase 3)
    NP_002418.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5003..17740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002427.4NP_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
      A8K846, B2RCZ3, P45452, Q6NWN6
      UniProtKB/TrEMBL
      Q53H33
      Related
      ENSP00000260302.3, ENST00000260302.8
      Conserved Domains (3) 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 ...
      pfam00413
      Location:112267
      Peptidase_M10; Matrixin
      pfam01471
      Location:3291
      PG_binding_1; Putative peptidoglycan binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      102942995..102955732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      102946765..102959501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)