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

Gene ID: 17381, updated on 20-Jul-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
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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 
involved_in 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)

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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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