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    MMP7 matrix metallopeptidase 7 [ Homo sapiens (human) ]

    Gene ID: 4316, updated on 28-Oct-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

    See MMP7 in Genome Data Viewer
    Location:
    11q22.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102520508..102530747, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102522678..102532920, complement)
    RS_2024_09 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 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)

    NEW Try the new Transcript table

    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_002423.5NP_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:103259
      Peptidase_M10; Matrixin
      pfam01471
      Location:3182
      PG_binding_1; Putative peptidoglycan binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)