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    MMP17 matrix metallopeptidase 17 [ Homo sapiens (human) ]

    Gene ID: 4326, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MMP17provided by HGNC
    Official Full Name
    matrix metallopeptidase 17provided by HGNC
    Primary source
    HGNC:HGNC:7163
    See related
    Ensembl:ENSG00000198598 MIM:602285; AllianceGenome:HGNC:7163
    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-17; MT4MMP; MTMMP4; MT4-MMP
    Summary
    This gene encodes a member of the peptidase M10 family and membrane-type subfamily 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. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in brain (RPKM 3.8), skin (RPKM 1.6) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MMP17 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (131828393..131851771)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (131872417..131895761)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132312938..132336316)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370088 Neighboring gene RNA, U6 small nuclear 1017, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132314665-132315274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132317107-132317716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132340479-132341030 Neighboring gene Sharpr-MPRA regulatory region 458 Neighboring gene uncharacterized LOC124903058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132347237-132347900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132348565-132349228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132352369-132352965 Neighboring gene uncharacterized LOC124903059

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Expression of membrane type-4 matrix metalloproteinase (metalloproteinase-17) by human eosinophils. Gauthier MC, et al. Int J Biochem Cell Biol, 2003 Dec. PMID 12962706
    2. Increased expression of MMP17 predicts poor clinical outcomes in epithelial ovarian cancer patients. Xiao C, et al. Medicine (Baltimore), 2022 Aug 26. PMID 36042626, Free PMC Article
    3. Localization of the human membrane type 4-matrix metalloproteinase gene (MMP17) to chromosome 12q24. Puente XS, et al. Genomics, 1998 Dec 15. PMID 9878265
    4. MT4-MMP promotes invadopodia formation and cell motility in FaDu head and neck cancer cells. Yan X, et al. Biochem Biophys Res Commun, 2020 Feb 19. PMID 31813546
    5. MT4-MMP Modulates the Expression of miRNAs in Breast Cancer Cells. Cervantes-Garduño A, et al. Arch Med Res, 2018 Oct. PMID 30792164

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevated Plasma Levels of MT4-MMP and MT6-MMP; A New Observation in Patients with Thyroid Nodules.
      Title: Elevated Plasma Levels of MT4-MMP and MT6-MMP; A New Observation in Patients with Thyroid Nodules.
    2. Increased expression of MMP17 predicts poor clinical outcomes in epithelial ovarian cancer patients.
      Title: Increased expression of MMP17 predicts poor clinical outcomes in epithelial ovarian cancer patients.
    3. MT4-MMP promotes invadopodia formation and cell motility in FaDu head and neck cancer cells.
      Title: MT4-MMP promotes invadopodia formation and cell motility in FaDu head and neck cancer cells.
    4. In breast cancer cells, the overexpression of MT4-MMP modulates the expression of microRNAs involved in several biological processes associated with tumor formation and progression and with clinical relevance.
      Title: MT4-MMP Modulates the Expression of miRNAs in Breast Cancer Cells.
    5. MT4-MMP targeting may constitute a novel strategy to boost patrolling monocyte activity in early inflammation.
      Title: MT4-MMP deficiency increases patrolling monocyte recruitment to early lesions and accelerates atherosclerosis.
    6. Three forms of MT4-MMP with molecular masses of 45 kDa, 58 kDa and 69 kDa were detected. Further, we demonstrate that the 58 kDa form is the mature protein in the cell membrane, while the 69 kDa form is its precursor found in intracellular compartments.
      Title: Expression and Characterization of Membrane-Type 4 Matrix Metalloproteinase (MT4-MMP) and its Different Forms in Melanoma.
    7. Low MT4-MMP expression is associated with erlotinib resistance in breast cancer.
      Title: MT4-MMP and EGFR expression levels are key biomarkers for breast cancer patient response to chemotherapy and erlotinib.
    8. The MT4-MMP is internalized by the clathrin-independent carriers/GPI-enriched early endosomal compartments pathway, a mechanism that differs from that responsible for the internalization of other membrane-type MMP members.
      Title: Dynamics of internalization and recycling of the prometastatic membrane type 4 matrix metalloproteinase (MT4-MMP) in breast cancer cells.
    9. Screening of patients with inherited thoracic aortic aneurysms and dissections identified a missense mutation (R373H) in the MMP17 gene that prevented the expression of the protease in human transfected cells.
      Title: Deficiency of MMP17/MT4-MMP proteolytic activity predisposes to aortic aneurysm in mice.
    10. A functional link between MT4-MMP and the growth factor receptor EGFR.
      Title: EGFR activation and signaling in cancer cells are enhanced by the membrane-bound metalloprotease MT4-MMP.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    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
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metalloaminopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    involved_in drinking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    matrix metalloproteinase-17
    Names
    MT-MMP 4
    matrix metallopeptidase 17 (membrane-inserted)
    matrix metalloproteinase 17 (membrane-inserted)
    membrane-type matrix metalloproteinase 4
    membrane-type-4 matrix metalloproteinase
    NP_001397929.1
    NP_057239.4
    XP_011536657.1
    XP_011536658.1
    XP_016874796.1
    XP_047284816.1
    XP_047284817.1
    XP_047284818.1
    XP_054228045.1
    XP_054228046.1
    XP_054228047.1
    XP_054228048.1
    XP_054228049.1
    XP_054228050.1

    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_001411000.1 → NP_001397929.1  matrix metalloproteinase-17 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC131009
      Consensus CDS
      CCDS91781.1
      UniProtKB/TrEMBL
      Q8IWC3
      Related
      ENSP00000441106.1, ENST00000535291.5

    2. NM_016155.7 → NP_057239.4  matrix metalloproteinase-17 isoform 1 precursor

      See identical proteins and their annotated locations for NP_057239.4

      Status: REVIEWED

      Source sequence(s)
      AC131009
      Consensus CDS
      CCDS31927.1
      UniProtKB/Swiss-Prot
      Q14850, Q9ULZ9
      UniProtKB/TrEMBL
      Q8IWC3
      Related
      ENSP00000353767.1, ENST00000360564.5
      Conserved Domains (4) summary
      cd00094
      Location:329 → 523
      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:132 → 295
      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:132 → 295
      Peptidase_M10; Matrixin
      pfam01471
      Location:47 → 105
      PG_binding_1; Putative peptidoglycan binding domain

    RNA

    1. NR_182296.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC131009

    2. NR_182297.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC131009
      Related
      ENST00000535004.2

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      131828393..131851771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019307.2 → XP_016874796.1  matrix metalloproteinase-17 isoform X2

      UniProtKB/TrEMBL
      F5H209

    2. XM_047428861.1 → XP_047284817.1  matrix metalloproteinase-17 isoform X4

      UniProtKB/TrEMBL
      F5GWR3
      Related
      ENSP00000441710.2, ENST00000545790.6

    3. XM_011538355.4 → XP_011536657.1  matrix metalloproteinase-17 isoform X1

      See identical proteins and their annotated locations for XP_011536657.1

      UniProtKB/TrEMBL
      Q8IWC3
      Conserved Domains (4) summary
      cd00094
      Location:245 → 439
      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:48 → 211
      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:48 → 211
      Peptidase_M10; Matrixin
      pfam01471
      Location:1 → 21
      PG_binding_1; Putative peptidoglycan binding domain

    4. XM_011538356.4 → XP_011536658.1  matrix metalloproteinase-17 isoform X1

      See identical proteins and their annotated locations for XP_011536658.1

      UniProtKB/TrEMBL
      Q8IWC3
      Conserved Domains (4) summary
      cd00094
      Location:245 → 439
      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:48 → 211
      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:48 → 211
      Peptidase_M10; Matrixin
      pfam01471
      Location:1 → 21
      PG_binding_1; Putative peptidoglycan binding domain

    5. XM_047428860.1 → XP_047284816.1  matrix metalloproteinase-17 isoform X3

    6. XM_047428862.1 → XP_047284818.1  matrix metalloproteinase-17 isoform X5

    RNA

    1. XR_944552.3 RNA Sequence

    2. XR_944551.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      131872417..131895761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372072.1 → XP_054228047.1  matrix metalloproteinase-17 isoform X2

      UniProtKB/TrEMBL
      F5H209

    2. XM_054372074.1 → XP_054228049.1  matrix metalloproteinase-17 isoform X4

      UniProtKB/TrEMBL
      F5GWR3

    3. XM_054372071.1 → XP_054228046.1  matrix metalloproteinase-17 isoform X1

      UniProtKB/TrEMBL
      Q8IWC3

    4. XM_054372070.1 → XP_054228045.1  matrix metalloproteinase-17 isoform X1

      UniProtKB/TrEMBL
      Q8IWC3

    5. XM_054372073.1 → XP_054228048.1  matrix metalloproteinase-17 isoform X3

    6. XM_054372075.1 → XP_054228050.1  matrix metalloproteinase-17 isoform X5

    RNA

    1. XR_008488587.1 RNA Sequence

    2. XR_008488586.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULZ9.4 GenPept UniProtKB/Swiss-Prot:Q9ULZ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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