MMP7 matrix metallopeptidase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP7provided by HGNC
Official Full Name: matrix metallopeptidase 7provided by HGNC
Primary source: HGNC:HGNC:7174
See related: Ensembl:ENSG00000137673 MIM:178990; AllianceGenome:HGNC:7174
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: MMP-7; MPSL1; PUMP-1
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 secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]
Expression: Biased expression in gall bladder (RPKM 292.4), endometrium (RPKM 62.1) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (102520508..102530747, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102522678..102532920, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102391239..102401478, 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?

Matrix metalloproteinase 7 is associated with clinical and pathological characteristics of salivary adenoid cystic carcinomas.
Title: Matrix metalloproteinase 7 is associated with clinical and pathological characteristics of salivary adenoid cystic carcinomas.
MMP-7 expression is associated with a higher rate of tumor spread through air spaces in resected lung adenocarcinomas.
Title: MMP-7 expression is associated with a higher rate of tumor spread through air spaces in resected lung adenocarcinomas.
Expression of Matrix Metalloproteinase-2,-7,-9 in Serum during Pregnancy in Patients with Pre-Eclampsia: A Prospective Study.
Title: Expression of Matrix Metalloproteinase-2,-7,-9 in Serum during Pregnancy in Patients with Pre-Eclampsia: A Prospective Study.
The Contribution of Matrix Metalloproteinase-7 Promoter Genotypes to Hepatocellular Carcinoma Susceptibility.
Title: The Contribution of Matrix Metalloproteinase-7 Promoter Genotypes to Hepatocellular Carcinoma Susceptibility.
Matrix metalloproteinase 7 contributes to intestinal barrier dysfunction by degrading tight junction protein Claudin-7.
Title: Matrix metalloproteinase 7 contributes to intestinal barrier dysfunction by degrading tight junction protein Claudin-7.
Diagnostic values of plasma matrix metalloproteinase-7, interleukin-8, and gamma-glutamyl transferase in biliary atresia.
Title: Diagnostic values of plasma matrix metalloproteinase-7, interleukin-8, and gamma-glutamyl transferase in biliary atresia.
An Unexplored Role for MMP-7 (Matrix Metalloproteinase-7) in Promoting Gut Permeability After Ischemic Stroke.
Title: An Unexplored Role for MMP-7 (Matrix Metalloproteinase-7) in Promoting Gut Permeability After Ischemic Stroke.
Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk.
Title: Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk.
Dynamic analysis of serum MMP-7 and its relationship with disease progression in biliary atresia: a multicenter prospective study.
Title: Dynamic analysis of serum MMP-7 and its relationship with disease progression in biliary atresia: a multicenter prospective study.
Urinary Matrix Metalloproteinase 7 Activated by Oxidative Stress Predicts Kidney Prognosis in Myeloperoxidase-Antineutrophil Cytoplasmic Antibody-Associated Vasculitis.
Title: Urinary Matrix Metalloproteinase 7 Activated by Oxidative Stress Predicts Kidney Prognosis in Myeloperoxidase-Antineutrophil Cytoplasmic Antibody-Associated Vasculitis.

Submit: New GeneRIF Correction See all GeneRIFs (420)

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

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 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	HIV-1 gp120-treated vaginal epithelial cells show upregulation of matrix metallopeptidase 7 (MMP7) expression as compared to untreated control	PubMed
Tat	tat	HIV-1 Tat from AIDS patients with HIV-associated dementia upregulates MMP-2 and MMP-7 release and activation, leading to neurotoxicity	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

RH46951 (e-PCR)
- UniSTS:27832

SGC35374 (e-PCR)
- UniSTS:27833

Homology

Homologs of the MMP7 gene: The MMP7 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, A.thaliana, and rice.
Orthologs from Annotation Pipeline: 298 organisms have orthologs with human gene MMP7
Orthologs

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	PubMed
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables metallopeptidase 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 collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
acts_upstream_of_or_within membrane protein ectodomain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane protein intracellular domain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: matrilysin

Names: matrin; matrix metallopeptidase 7 (matrilysin, uterine); matrix metalloproteinase 7 (matrilysin, uterine); matrix metalloproteinase-7; pump-1 protease; uterine matrilysin; uterine metalloproteinase

NP_002414.1

EC 3.4.24.23

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.