MMP17 matrix metallopeptidase 17 [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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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 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91194 (e-PCR)
- UniSTS:85523

RH46995 (e-PCR)
- UniSTS:66696

RH80241 (e-PCR)
- UniSTS:85157

RH48667 (e-PCR)
- UniSTS:27638

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

EC 3.4.24.-

NP_057239.4

EC 3.4.24.-

XP_011536657.1

EC 3.4.24.-

XP_011536658.1

EC 3.4.24.-

XP_016874796.1

EC 3.4.24.-

XP_047284816.1

EC 3.4.24.-

XP_047284817.1

EC 3.4.24.-

XP_047284818.1

EC 3.4.24.-

XP_054228045.1

EC 3.4.24.-

XP_054228046.1

EC 3.4.24.-

XP_054228047.1

EC 3.4.24.-

XP_054228048.1

EC 3.4.24.-

XP_054228049.1

EC 3.4.24.-

XP_054228050.1

EC 3.4.24.-

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)

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

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

NR_182296.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC131009
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

131828393..131851771

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

F5H209
XM_047428861.1 → XP_047284817.1 matrix metalloproteinase-17 isoform X4

Related

ENSP00000441710.2, ENST00000545790.6
XM_011538355.4 → XP_011536657.1 matrix metalloproteinase-17 isoform X1

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

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
XM_047428860.1 → XP_047284816.1 matrix metalloproteinase-17 isoform X3
XM_047428862.1 → XP_047284818.1 matrix metalloproteinase-17 isoform X5