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MMP17 matrix metallopeptidase 17 [ Homo sapiens (human) ]

Gene ID: 4326, updated on 27-Nov-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
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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
    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

    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

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

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

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

  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

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