MMP12 matrix metallopeptidase 12 (macrophage elastase) [Homo sapiens] - Gene

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Summary

Official Symbol: MMP12provided by HGNC
Official Full Name: matrix metallopeptidase 12 (macrophage elastase)provided by HGNC
Primary source: HGNC:7158
See related: HPRD:03027; 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; MGC138506
Summary: Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q22.3

Sequence :: Chromosome: 11; NC_000011.9 (102733464..102745764, complement)

See MMP12 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Report MMP11/12 expression in cervical scrapes cells from cervical precursor lesions.
Title: Co-expression of metalloproteinases 11 and 12 in cervical scrapes cells from cervical precursor lesions.
Surfaces of MMP-12 far from its active site have been found to affect degradation and affinity for elastin substrates; main exosite 1 has been extended to Asp-124 that binds calcium while exosite 2 comprises residues near the back of the catalytic domain.
Title: Remote exosites of the catalytic domain of matrix metalloproteinase-12 enhance elastin degradation.
Expression of genes for metalloproteinases (MMP-1, MMP-2, MMP-9, and MMP-12) associated with psoriasis
Title: [Expression of genes for metalloproteinases (MMP-1, MMP-2, MMP-9, and MMP-12) associated with psoriasis].
Suggest a tendency of the GG-A haplotype of MMP-1 G-1607GG and MMP-12 A1082G to predict future clinical events in patients with coronary artery disease.
Title: Matrix metalloproteinase-1 and matrix metalloproteinase-12 gene polymorphisms and the outcome of coronary artery disease.
rs652438 SNP alters MMP-12 activity with the A allele being more active, which is associated with increased macrophage infiltration and emphysema in the lungs of patients with COPD. These findings further implicate MMP-12 and this SNP in COPD
Title: Matrix metalloproteinase-12 (MMP-12) SNP affects MMP activity, lung macrophage infiltration and protects against emphysema in COPD.
MMP-12 mRNA may be a valuable prognostic marker for both overall survival and tumour recurrence of hepatocellular patients after liver resection.
Title: Overexpression of matrix metalloproteinase-12 (MMP-12) correlates with poor prognosis of hepatocellular carcinoma.
genetic variations within the MMP-3/MMP-12 locus influence susceptibility of DN in type 1 diabetes.
Title: Genetic variation in the matrix metalloproteinase genes and diabetic nephropathy in type 1 diabetes.
High expression of MMP-12 in squamous laryngeal carcinoma was related to significant hyperplasia.
Title: [Study on the expression of matrix metalloproteinase-12 and NM_002426 in squamous laryngeal carcinoma].
Data suggest that the matrix metalloproteinase-12 rs2276109 gene polymorphism may contribute to susceptibility to systemic sclerosis (SSc), and in particular to diffuse cutaneous SSc and pulmonary fibrosis.
Title: Association of a functional polymorphism in the matrix metalloproteinase-12 promoter region with systemic sclerosis in an Italian population.
Tissue present at the site of hypertrophic nonunions commonly expresses significantly higher levels of MMP-7 and MMP-12 in relation to mineralized fracture callus.
Title: Matrix metalloproteinases that associate with and cleave bone morphogenetic protein-2 in vitro are elevated in hypertrophic fracture nonunion tissue.

Submit: New GeneRIF Correction See all (71)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs
P39900	P00748	F12	HPRD	PubMed
P39900	P08519	LPA	HPRD	PubMed
P39900	Q03405	PLAUR	HPRD	PubMed
P39900	P10646	TFPI	HPRD	PubMed

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
endopeptidase activity	TAS Traceable Author Statement more info	PubMed
metalloendopeptidase activity	TAS Traceable Author Statement more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
metabolic process	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
proteolysis	IEA Inferred from Electronic Annotation more info
wound healing, spreading of epidermal cells	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: macrophage metalloelastase

Names: macrophage metalloelastase; macrophage elastase; matrix metalloproteinase-12; matrix metalloproteinase 12 (macrophage elastase)

NP_002417.2

EC 3.4.24.65

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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.

mRNA and Protein(s)

NM_002426.4 → NP_002417.2 macrophage metalloelastase preproprotein

Status: REVIEWED

Source sequence(s)

AI352562, BC112301

UniProtKB/Swiss-Prot

P39900

Conserved Domains (3) summary

cd00094
Location:279 – 470
Blast Score: 583

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:109 – 263
Blast Score: 571

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 ...

cl15437
Location:28 – 87
Blast Score: 137

PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

102733464..102745764, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

98661485..98673788, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP000789.5 (30966..43214)	None
genomic	AY856072.1	AAW29944.1
genomic	CH471065.1	EAW67033.1
genomic	U25346.1	AAB06314.1
genomic	U78045.1	AAB36943.1
mRNA	AI343504.1	None
mRNA	AI352562.1	None
mRNA	AK313959.1	BAG36675.1
mRNA	AW172994.1	None
mRNA	BC112301.1	AAI12302.1
mRNA	BC143773.1	AAI43774.1
mRNA	BE440047.1	None
mRNA	BE813419.1	None
mRNA	L23808.1	AAA58658.1
other-genetic	HQ258263.1	ADR83017.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P39900.1	GenPept	UniProtKB/Swiss-Prot:P39900
Q13165	GenPept	UniProtKB/TrEMBL:Q13165
Q99745	GenPept	UniProtKB/TrEMBL:Q99745