Mmp20 matrix metallopeptidase 20 (enamelysin) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mmp20provided by MGI
Official Full Name: matrix metallopeptidase 20 (enamelysin)provided by MGI
Primary source: MGI:MGI:1353466
See related: Ensembl:ENSMUSG00000018620 AllianceGenome:MGI:1353466
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
Summary: This gene encodes a member of the matrix metalloproteinase family of zinc-dependent endopeptidases capable of degrading extracellular matrix proteins. This gene is expressed specifically in the ameloblasts and odontoblasts, and the encoded protein is an inactive zymogen that requires proteolytic removal of a N-terminal propeptide to become enzymatically active. Mice lacking the encoded protein display an amelogenesis imperfecta phenotype. [provided by RefSeq, Oct 2015]
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:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (7628232..7674969)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (7628231..7674968)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Mobility gene expression differences among wild-type, Mmp20 null and Mmp20 over-expresser mice plus visualization of 3D mouse ameloblast directional movement.
Title: Mobility gene expression differences among wild-type, Mmp20 null and Mmp20 over-expresser mice plus visualization of 3D mouse ameloblast directional movement.
MMP20-generated amelogenin cleavage products prevent formation of fan-shaped enamel malformations.
Title: MMP20-generated amelogenin cleavage products prevent formation of fan-shaped enamel malformations.
polymorphisms in Ambn, Col14a1, and Mmp20 are associated with the susceptibility to dental fluorosis
Title: Analysis of Polymorphisms in Genes Differentially Expressed in the Enamel of Mice with Different Genetic Susceptibilities to Dental Fluorosis.
increased cadherin cleavage by transgenic MMP20 in the wild type background releases excess beta-catenin, which translocates to ameloblast nuclei to promote cell migration/invasion. Therefore, MMP20 plays a role in normal ameloblast migration through tightly controlled Wnt signaling and MMP20 overexpression disrupts this process.
Title: Murine matrix metalloproteinase-20 overexpression stimulates cell invasion into the enamel layer via enhanced Wnt signaling.
MMP-20 action guides the growth morphology of the forming hydroxyapatite crystals and enhances their crystallinity.
Title: Matrix metalloproteinase-20 mediates dental enamel biomineralization by preventing protein occlusion inside apatite crystals.
Matrix metalloproteinase-20 over-expression is detrimental to enamel development
Title: Matrix metalloproteinase-20 over-expression is detrimental to enamel development: a Mus musculus model.
enamel of M180Tg/AmelxKO mice was thinner than WT, it had similar mechanical properties and decussating enamel prisms, which were abolished by the loss of MMP20 in the M180Tg/DKO mice.
Title: M180 amelogenin processed by MMP20 is sufficient for decussating murine enamel.
MMP20 cleaves extracellular domains of cadherin adherens junction proteins, both E- and N-cadherin transcripts are expressed at significantly higher levels in Mmp20 null mice; in Mmp20 ablated mice N-cadherin expression persists during maturation stage
Title: MMP20 modulates cadherin expression in ameloblasts as enamel develops.
required for ameloblast cell movement necessary to form the decussating enamel rod patterns, for the prevention of ectopic mineral formation, and to maintain a functional dentin-enamel junction
Title: Matrix metalloproteinase 20 promotes a smooth enamel surface, a strong dentino-enamel junction, and a decussating enamel rod pattern.
MMP20 may influence ameloblast developmental progression through hydrolysis of cadherin extracellular domains with associated release of transcription factor(s).
Title: MMP20 cleaves E-cadherin and influences ameloblast development.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Targeted (1) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (5)

General gene information

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Markers

Mmp20 (e-PCR), detects polymorphism
- UniSTS:158742

AV064505 (e-PCR)
- UniSTS:165613

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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
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 zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amelogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: matrix metalloproteinase-20

Names: enamel metalloproteinase; matrix metalloproteinase 20 (enamelysin)

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_013903.2 → NP_038931.1 matrix metalloproteinase-20 preproprotein

See identical proteins and their annotated locations for NP_038931.1

Status: REVIEWED

Source sequence(s)

AL603630

Consensus CDS

CCDS22809.1

UniProtKB/Swiss-Prot

A7MCV5, P57748

Related

ENSMUSP00000034487.3, ENSMUST00000034487.4

Conserved Domains (4) summary

cd00094
Location:292 → 482

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:115 → 270

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:115 → 270

Peptidase_M10; Matrixin

pfam01471
Location:39 → 94

PG_binding_1; Putative peptidoglycan binding domain