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    Mmp12 matrix metallopeptidase 12 [ Mus musculus (house mouse) ]

    Gene ID: 17381, updated on 6-May-2021

    Summary

    Official Symbol
    Mmp12provided by MGI
    Official Full Name
    matrix metallopeptidase 12provided by MGI
    Primary source
    MGI:MGI:97005
    See related
    Ensembl:ENSMUSG00000049723
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MME; MMP1; Mmel; AV378681
    Summary
    This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See Mmp12 in Genome Data Viewer
    Location:
    9 A1; 9 2.46 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (7344397..7360461)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (7344397..7360461)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (7347374..7360461)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31639 Neighboring gene matrix metallopeptidase 13 Neighboring gene matrix metallopeptidase 1b (interstitial collagenase) Neighboring gene matrix metallopeptidase 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables collagen binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables core promoter sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metalloendopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metallopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within bronchiole development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within bronchiole development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in collagen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in elastin catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within lung alveolus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endothelial cell-matrix adhesion via fibronectin ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation involved in wound healing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interferon-alpha production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of trophoblast cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in wound healing, spreading of epidermal cells ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    macrophage metalloelastase
    Names
    macrophage elastase
    matrix metalloproteinase 12
    NP_001307005.1
    NP_001307006.1
    NP_032631.3
    XP_017168649.1

    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.

    mRNA and Protein(s)

    1. NM_001320076.1NP_001307005.1  macrophage metalloelastase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start site, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC169512, AK155748, AK155841, BY195619, BY539785
      UniProtKB/Swiss-Prot
      P34960
      Conserved Domains (4) summary
      cd00094
      Location:236420
      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:59214
      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:59214
      Peptidase_M10; Matrixin
      pfam01471
      Location:1138
      PG_binding_1; Putative peptidoglycan binding domain
    2. NM_001320077.1NP_001307006.1  macrophage metalloelastase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start site, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC169512, AK089509, AK155748, AK155841, BY539785
      Consensus CDS
      CCDS85639.1
      UniProtKB/Swiss-Prot
      P34960
      UniProtKB/TrEMBL
      Q3TCW6
      Related
      ENSMUSP00000114129.2, ENSMUST00000120655.8
      Conserved Domains (4) summary
      cd00094
      Location:219403
      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:42197
      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:42197
      Peptidase_M10; Matrixin
      pfam01471
      Location:121
      PG_binding_1; Putative peptidoglycan binding domain
    3. NM_008605.3NP_032631.3  macrophage metalloelastase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_032631.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK155748, AK155841, AK171428, BY195619, BY539785
      Consensus CDS
      CCDS22804.1
      UniProtKB/Swiss-Prot
      P34960
      Related
      ENSMUSP00000005950.6, ENSMUST00000005950.12
      Conserved Domains (4) summary
      cd00094
      Location:289473
      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:3191
      PG_binding_1; Putative peptidoglycan binding domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      7344397..7360461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313160.2XP_017168649.1  macrophage metalloelastase isoform X1

      Conserved Domains (3) summary
      cd00094
      Location:259443
      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:82237
      Peptidase_M10; Matrixin
      pfam01471
      Location:161
      PG_binding_1; Putative peptidoglycan binding domain
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