MMP3 matrix metallopeptidase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP3provided by HGNC
Official Full Name: matrix metallopeptidase 3provided by HGNC
Primary source: HGNC:HGNC:7173
See related: Ensembl:ENSG00000149968 MIM:185250; AllianceGenome:HGNC:7173
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: SL-1; STMY; STR1; CHDS6; MMP-3; STMY1
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. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]
Expression: Biased expression in endometrium (RPKM 37.5), appendix (RPKM 12.3) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 11q22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (102835801..102843609, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102839570..102847378, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102706532..102714340, complement)

Chromosome 11 - NC_000011.10 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Growth Differentiation Factor 15 and Matrix Metalloproteinase 3 in Plasma as Biomarkers for Neuropathy and Nephropathy in Type 1 Diabetes.
Title: Growth Differentiation Factor 15 and Matrix Metalloproteinase 3 in Plasma as Biomarkers for Neuropathy and Nephropathy in Type 1 Diabetes.
Smooth muscle cell-specific matrix metalloproteinase 3 deletion reduces osteogenic transformation and medial artery calcification.
Title: Smooth muscle cell-specific matrix metalloproteinase 3 deletion reduces osteogenic transformation and medial artery calcification.
MMP3 single-nucleotide polymorphisms are associated with noncontact ACL injuries in competing high-level athletes.
Title: MMP3 single-nucleotide polymorphisms are associated with noncontact ACL injuries in competing high-level athletes.
Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis.
Title: Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis.
Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.
Title: Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.
Transcriptomic discovery of a theranostic signature (SERPINE1/MMP3/COL1A1/SPP1) for head and neck squamous cell carcinomas and identification of antrocinol as a candidate drug.
Title: Transcriptomic discovery of a theranostic signature (SERPINE1/MMP3/COL1A1/SPP1) for head and neck squamous cell carcinomas and identification of antrocinol as a candidate drug.
Association of MMP3 gene polymorphism and sex on recovery of muscle strength after eccentric exercise.
Title: Association of MMP3 gene polymorphism and sex on recovery of muscle strength after eccentric exercise.
Comparative evaluation of the trabecular structure of the mandibular condyle, the levels of salivary cortisol, MMP-3, TNF-alpha, IL-1beta in individuals with and without temporomandibular joint disorder.
Title: Comparative evaluation of the trabecular structure of the mandibular condyle, the levels of salivary cortisol, MMP-3, TNF-α, IL-1β in individuals with and without temporomandibular joint disorder.
MMP-3 -1171 5A/6A promoter polymorphism and cancer susceptibility: an updated meta-analysis and trial sequential analysis.
Title: MMP-3 -1171 5A/6A promoter polymorphism and cancer susceptibility: an updated meta-analysis and trial sequential analysis.
Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients.
Title: Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients.

Submit: New GeneRIF Correction See all GeneRIFs (599)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Coronary heart disease, susceptibility to, 6 MedGen: C3280913 OMIM: 614466 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	CXCR4-tropic and CXCR4/CCR5 dual-tropic HIV-1 gp120 induce the cleavage of CD62 ligand by a mechanism dependent on matrix metalloproteinases 1 and 3, CD4, CXCR4, Galpha(i), and p38 MAPK, whereas CCR5-tropic gp120 does not	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of matrix metallopeptidase 3 (MMP3; stromelysin 1; progelatinase) in primary human brain microvascular endothelial cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC85083P2 (e-PCR)
- UniSTS:273464

D14S1188 (e-PCR)
- UniSTS:74617

STS-X05232 (e-PCR)
- UniSTS:24219

NoName (e-PCR)
- UniSTS:482017

NoName (e-PCR)
- UniSTS:489723

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to nitric oxide	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen catabolic process	TAS Traceable Author Statement more info
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
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuroinflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in response to amyloid-beta	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation 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 mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: stromelysin-1

Names: matrix metalloproteinase 3 (stromelysin 1, progelatinase); proteoglycanase; transin-1

NP_002413.1

EC 3.4.24.17

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.

Genomic

NG_012100.1 RefSeqGene

Range

5003..12811

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002422.5 → NP_002413.1 stromelysin-1 preproprotein

See identical proteins and their annotated locations for NP_002413.1

Status: REVIEWED

Source sequence(s)

AI628953, AK223291, BC074815, DA982602

Consensus CDS

CCDS8323.1

UniProtKB/Swiss-Prot

B2R8B8, P08254, Q3B7S0, Q6GRF8

Related

ENSP00000299855.5, ENST00000299855.10

Conserved Domains (4) summary

cd00094
Location:287 → 477

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:108 → 264

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:108 → 264

Peptidase_M10; Matrixin

pfam01471
Location:25 → 87

PG_binding_1; Putative peptidoglycan binding domain