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    MMP12 matrix metallopeptidase 12 [ Homo sapiens (human) ]

    Gene ID: 4321, updated on 12-Sep-2021

    Summary

    Official Symbol
    MMP12provided by HGNC
    Official Full Name
    matrix metallopeptidase 12provided by HGNC
    Primary source
    HGNC:HGNC:7158
    See related
    Ensembl:ENSG00000262406 MIM:601046
    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
    ME; HME; MME; MMP-12
    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 degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in appendix (RPKM 25.3), urinary bladder (RPKM 15.0) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MMP12 in Genome Data Viewer
    Location:
    11q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102862736..102874982, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102733467..102745712, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Wilms tumor 1 associated protein pseudogene 1 Neighboring gene casein kinase 1 alpha 1 pseudogene 2 Neighboring gene matrix metallopeptidase 3 Neighboring gene bolA family member 3 pseudogene 1 Neighboring gene RNA, U7 small nuclear 159 pseudogene

    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
    Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
    GeneReviews: Not available
    Genome-wide association study of Alzheimer's disease.
    GeneReviews: Not available
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    GeneReviews: Not available
    Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of matrix metallopeptidase 12 (MMP12) in peptide-treated PBMCs PubMed
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of matrix metallopeptidase 12 (MMP12) in primary human brain microvascular endothelial cells 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

    Homology

    Clone Names

    • MGC138506

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    macrophage metalloelastase
    Names
    matrix metallopeptidase 12 (macrophage elastase)
    matrix metalloproteinase 12 (macrophage elastase)
    NP_002417.2

    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_032936.1 RefSeqGene

      Range
      5053..17299
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002426.6NP_002417.2  macrophage metalloelastase preproprotein

      See identical proteins and their annotated locations for NP_002417.2

      Status: REVIEWED

      Source sequence(s)
      AI352562, BC112301
      Consensus CDS
      CCDS73375.1
      UniProtKB/Swiss-Prot
      P39900
      Related
      ENSP00000458585.1, ENST00000571244.3
      Conserved Domains (3) summary
      cd00094
      Location:279470
      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:109263
      Peptidase_M10; Matrixin
      pfam01471
      Location:2887
      PG_binding_1; Putative peptidoglycan binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      102862736..102874982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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