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MMP7 matrix metallopeptidase 7 [ Homo sapiens (human) ]

Gene ID: 4316, updated on 11-Apr-2024

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
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Genomic context

Location:
11q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102520508..102530747, complement)
RS_2023_10 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_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5447 Neighboring gene TMEM123 divergent transcript Neighboring gene uncharacterized LOC124902740 Neighboring gene uncharacterized LOC102723838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3862 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5448 Neighboring gene matrix metallopeptidase 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:102486041-102486542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:102486543-102487042 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18652 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18668 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18672 Neighboring gene MMP20 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18676 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18677 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18685

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular matrix 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

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

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)

  1. NM_002423.5 → NP_002414.1  matrilysin preproprotein

    See identical proteins and their annotated locations for NP_002414.1

    Status: REVIEWED

    Source sequence(s)
    BC003635, CB109660, X07819
    Consensus CDS
    CCDS8317.1
    UniProtKB/Swiss-Prot
    P09237, Q9BTK9
    UniProtKB/TrEMBL
    Q53GF1
    Related
    ENSP00000260227.4, ENST00000260227.5
    Conserved Domains (2) summary
    pfam00413
    Location:103 → 259
    Peptidase_M10; Matrixin
    pfam01471
    Location:31 → 82
    PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    102520508..102530747 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    102522678..102532920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)