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

Summary

Official Symbol: Mmp12provided by MGI
Official Full Name: matrix metallopeptidase 12provided by MGI
Primary source: MGI:MGI:97005
See related: Ensembl:ENSMUSG00000049723 AllianceGenome:MGI:97005
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; Mmel
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: human all
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Genomic context

Location:: 9 A1; 9 2.46 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Limited Alleviation of Lysosomal Acid Lipase Deficiency by Deletion of Matrix Metalloproteinase 12.
Title: Limited Alleviation of Lysosomal Acid Lipase Deficiency by Deletion of Matrix Metalloproteinase 12.
RNA Expression of MMP12 Is Strongly Associated with Inflammatory Bowel Disease and Is Regulated by Metabolic Pathways in RAW 264.7 Macrophages.
Title: RNA Expression of MMP12 Is Strongly Associated with Inflammatory Bowel Disease and Is Regulated by Metabolic Pathways in RAW 264.7 Macrophages.
Genetic deletion of MMP12 ameliorates cardiometabolic disease by improving insulin sensitivity, systemic inflammation, and atherosclerotic features in mice.
Title: Genetic deletion of MMP12 ameliorates cardiometabolic disease by improving insulin sensitivity, systemic inflammation, and atherosclerotic features in mice.
Macrophage-derived MMP12 promotes fibrosis through sustained damage to endothelial cells.
Title: Macrophage-derived MMP12 promotes fibrosis through sustained damage to endothelial cells.
MMP-12 knockdown prevents secondary brain damage after ischemic stroke in mice.
Title: MMP-12 knockdown prevents secondary brain damage after ischemic stroke in mice.
Deletion of matrix metalloproteinase-12 compromises mechanical homeostasis and leads to an aged aortic phenotype in young mice.
Title: Deletion of matrix metalloproteinase-12 compromises mechanical homeostasis and leads to an aged aortic phenotype in young mice.
Macrophage elastase (MMP12) critically contributes to the development of subretinal fibrosis.
Title: Macrophage elastase (MMP12) critically contributes to the development of subretinal fibrosis.
Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
Title: Lung emphysema and impaired macrophage elastase clearance in mucolipin 3 deficient mice.
The M2a Macrophage Phenotype Accompanies Pulmonary Granuloma Resolution in Mmp12 Knock-Out Mice Instilled with Multiwall Carbon Nanotubes.
Title: The M2a Macrophage Phenotype Accompanies Pulmonary Granuloma Resolution in Mmp12 Knock-Out Mice Instilled with Multiwall Carbon Nanotubes.
MMP-12 siRNA improves the homeostasis of the small intestine and metabolic dysfunction in high-fat diet feeding-induced obese mice.
Title: MMP-12 siRNA improves the homeostasis of the small intestine and metabolic dysfunction in high-fat diet feeding-induced obese mice.

Submit: New GeneRIF Correction See all GeneRIFs (97)

Variation

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Alleles

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

Endonuclease-mediated (5)
Targeted (3) 1 citation

General gene information

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Markers

px-35d2 (e-PCR)
- UniSTS:257633

px-72g5 (e-PCR)
- UniSTS:258181

M82831 (e-PCR)
- UniSTS:179857

Mmp12 (e-PCR), detects polymorphism
- UniSTS:265618

px-24g4 (e-PCR)
- UniSTS:257458

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables collagen binding	IEA Inferred from Electronic Annotation more info
enables collagen binding	ISO Inferred from Sequence Orthology more info
enables core promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation 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
involved_in elastin catabolic process	IEA Inferred from Electronic Annotation more info
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
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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in wound healing, spreading of epidermal cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
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	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	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

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Preferred Names: macrophage metalloelastase

Names: macrophage elastase; matrix metalloproteinase 12

NP_001307005.1

EC 3.4.24.65

NP_001307006.1

EC 3.4.24.65

NP_032631.3

EC 3.4.24.65

XP_017168649.1

EC 3.4.24.65

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)

NM_001320076.1 → NP_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:236 → 420

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:59 → 214

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:59 → 214

Peptidase_M10; Matrixin

pfam01471
Location:11 → 38

PG_binding_1; Putative peptidoglycan binding domain
NM_001320077.1 → NP_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/TrEMBL

Q3TCW6

Related

ENSMUSP00000114129.2, ENSMUST00000120655.8

Conserved Domains (4) summary

cd00094
Location:219 → 403

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:42 → 197

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:42 → 197

Peptidase_M10; Matrixin

pfam01471
Location:1 → 21

PG_binding_1; Putative peptidoglycan binding domain
NM_008605.3 → NP_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, Q3TB28, Q3TBV6, Q3TBV9, Q3TD61, Q3U1S8, Q3U1S9, Q3U2R8, Q3UBC5, Q4FJM7, Q8BJ92, Q8BJB3, Q8BJB6, Q8BJB8, Q8BJB9, Q8VED6

Related

ENSMUSP00000005950.6, ENSMUST00000005950.12

Conserved Domains (4) summary

cd00094
Location:289 → 473

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:112 → 267

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:112 → 267

Peptidase_M10; Matrixin

pfam01471
Location:31 → 91

PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

7344397..7360461

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313160.2 → XP_017168649.1 macrophage metalloelastase isoform X1

Conserved Domains (3) summary

cd00094
Location:259 → 443

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:82 → 237

Peptidase_M10; Matrixin

pfam01471
Location:1 → 61

PG_binding_1; Putative peptidoglycan binding domain