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MMP12 matrix metallopeptidase 12 [ Homo sapiens (human) ]

Gene ID: 4321, updated on 10-Oct-2019

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

Genomic context

See MMP12 in Genome Data Viewer
Location:
11q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102862736..102874982, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102733464..102745764, 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

NHGRI GWAS Catalog

Description
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
NHGRI GWA Catalog
Genome-wide association study of Alzheimer's disease.
NHGRI GWA Catalog
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
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NHGRI GWA Catalog

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 BioSystems

  • 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...
  • 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...
  • 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...
  • 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...
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...

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

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 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 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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