MMP14 matrix metallopeptidase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP14provided by HGNC
Official Full Name: matrix metallopeptidase 14provided by HGNC
Primary source: HGNC:HGNC:7160
See related: Ensembl:ENSG00000157227 MIM:600754; AllianceGenome:HGNC:7160
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-14; MMP-X1; MT-MMP; MT1MMP; MTMMP1; WNCHRS; MT1-MMP; MT-MMP 1
Summary: Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]
Expression: Broad expression in endometrium (RPKM 130.9), gall bladder (RPKM 96.0) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (22836585..22847758)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17034651..17045822)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23305794..23316967)

Chromosome 14 - NC_000014.9 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
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?

Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.
Title: Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.
Expression of MMP-14 and its role in bone destruction in middle ear cholesteatoma: A prospective observational study.
Title: Expression of MMP-14 and its role in bone destruction in middle ear cholesteatoma: A prospective observational study.
KIF16B drives MT1-MMP recycling in macrophages and promotes co-invasion of cancer cells.
Title: KIF16B drives MT1-MMP recycling in macrophages and promotes co-invasion of cancer cells.
Gallbladder cancer-associated genetic variants rs1003349 and rs1004030 regulate MMP14 expression by altering SOX10- and MYB-binding sites.
Title: Gallbladder cancer-associated genetic variants rs1003349 and rs1004030 regulate MMP14 expression by altering SOX10- and MYB-binding sites.
Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
Title: Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
Characterizing the function-related specific assembly pattern of matrix metalloproteinase-14 by dSTORM imaging.
Title: Characterizing the function-related specific assembly pattern of matrix metalloproteinase-14 by dSTORM imaging.
ALIX promotes cell migration and invasion of head and neck squamous cell carcinoma by regulating the expression of MMP9, MMP14, VEGF-C.
Title: ALIX promotes cell migration and invasion of head and neck squamous cell carcinoma by regulating the expression of MMP9, MMP14, VEGF-C.
Tumour Suppressor Neuron Navigator 3 and Matrix Metalloproteinase 14 are Co-expressed in Most Melanomas but Downregulated in Thick Tumours.
Title: Tumour Suppressor Neuron Navigator 3 and Matrix Metalloproteinase 14 are Co-expressed in Most Melanomas but Downregulated in Thick Tumours.
MMP14 expression levels accurately predict the presence of extranodal extensions in oral squamous cell carcinoma: a retrospective cohort study.
Title: MMP14 expression levels accurately predict the presence of extranodal extensions in oral squamous cell carcinoma: a retrospective cohort study.
MT1-MMP and ADAM10/17 exhibit a remarkable overlap of shedding properties.
Title: MT1-MMP and ADAM10/17 exhibit a remarkable overlap of shedding properties.

Submit: New GeneRIF Correction See all GeneRIFs (513)

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

Associated conditions

Description	Tests
Winchester syndrome MedGen: C0432289 OMIM: 277950 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of matrix metallopeptidase 14 (MMP14) in peptide-treated PBMCs	PubMed

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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

Mmp14 (e-PCR), detects polymorphism
- UniSTS:143879

RH103319 (e-PCR)
- UniSTS:97650

RH91125 (e-PCR)
- UniSTS:88304

MMP14_918 (e-PCR)
- UniSTS:277490

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables metalloaminopeptidase activity	IDA Inferred from Direct Assay 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 metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
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

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in astrocyte cell migration	IEA Inferred from Electronic Annotation more info
involved_in branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
involved_in cell motility	TAS Traceable Author Statement more info	PubMed
involved_in chondrocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen catabolic process	TAS Traceable Author Statement more info
involved_in craniofacial suture morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic cranial skeleton morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endochondral ossification	IEA Inferred from Electronic Annotation more info
involved_in endodermal cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in head development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of focal adhesion assembly	IEA Inferred from Electronic Annotation more info
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myotube differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein processing	IEA Inferred from Electronic Annotation more info
involved_in protein processing	TAS Traceable Author Statement more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to odorant	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in tissue remodeling	IEA Inferred from Electronic Annotation more info
involved_in zymogen activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in zymogen activation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
colocalizes_with cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
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 extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in macropinosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: matrix metalloproteinase-14

Names: matrix metallopeptidase 14 (membrane-inserted); membrane type 1 metalloprotease; membrane-type-1 matrix metalloproteinase

NP_004986.1

EC 3.4.24.80

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.

Genomic

NG_046989.1 RefSeqGene

Range

5053..16226

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004995.4 → NP_004986.1 matrix metalloproteinase-14 preproprotein

See identical proteins and their annotated locations for NP_004986.1

Status: REVIEWED

Source sequence(s)

AL135998, BQ009340, HY075830, Z48481

Consensus CDS

CCDS9577.1

UniProtKB/Swiss-Prot

A8K5L0, P50281, Q6GSF3, Q92678

UniProtKB/TrEMBL

K4RH61

Related

ENSP00000308208.6, ENST00000311852.11

Conserved Domains (5) summary

cd00094
Location:316 → 508

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:118 → 284

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:118 → 284

Peptidase_M10; Matrixin

pfam01471
Location:36 → 88

PG_binding_1; Putative peptidoglycan binding domain

pfam11857
Location:560 → 582

DUF3377; Domain of unknown function (DUF3377)