Gene Gene information from NCBI Gene database.
Entrez ID 4323
Gene name Matrix metallopeptidase 14
Gene symbol MMP14
Synonyms (NCBI Gene)
MMP-14MMP-X1MT-MMPMT-MMP 1MT1-MMPMT1MMPMTMMP1WNCHRS
Chromosome 14
Chromosome location 14q11.2
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 art
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777039 C>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
291
miRTarBase ID miRNA Experiments Reference
MIRT016970 hsa-miR-335-5p Microarray 18185580
MIRT021533 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT053694 hsa-miR-181a-5p Microarray 22942087
MIRT437400 hsa-miR-133a-3p Luciferase reporter assayqRT-PCRWestern blot 23783274
MIRT437400 hsa-miR-133a-3p Luciferase reporter assayqRT-PCRWestern blot 23783274
Transcription factors Transcription factors information provided by TRRUST V2 database.
13
Transcription factor Regulation Reference
CTNNB1 Activation 21517265
CTNNBIP1 Unknown 14639622
EGR1 Activation 17158885
EPAS1 Activation 15592504
ETV4 Activation 15756447;18425363
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
93
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IBA
GO:0001501 Process Skeletal system development IEA
GO:0001503 Process Ossification IEA
GO:0001503 Process Ossification IEA
GO:0001525 Process Angiogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600754 7160 ENSG00000157227
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P50281
Protein name Matrix metalloproteinase-14 (MMP-14) (EC 3.4.24.80) (MMP-X1) (Membrane-type matrix metalloproteinase 1) (MT-MMP 1) (MTMMP1) (Membrane-type-1 matrix metalloproteinase) (MT1-MMP) (MT1MMP)
Protein function Endopeptidase that degrades various components of the extracellular matrix such as collagen (PubMed:8015608). Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similari
PDB 1BQQ , 1BUV , 2MQS , 3C7X , 3MA2 , 3X23 , 4P3C , 4P3D , 4QXU , 5H0U , 6CLZ , 6CM1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 36 88 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 118 284 Matrixin Domain
PF00045 Hemopexin 323 366 Hemopexin Repeat
PF00045 Hemopexin 368 412 Hemopexin Repeat
PF00045 Hemopexin 415 461 Hemopexin Repeat
PF00045 Hemopexin 465 510 Hemopexin Repeat
PF11857 DUF3377 512 582 Domain of unknown function (DUF3377) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in stromal cells of colon, breast, and head and neck. Expressed in lung tumors. {ECO:0000269|PubMed:18223680}.
Sequence
Sequence length 582
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  TNF signaling pathway
GnRH signaling pathway
Parathyroid hormone synthesis, secretion and action
  Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Winchester syndrome Pathogenic rs1284390443, rs587777039 RCV003988802
RCV000055657
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance rs750574703 RCV004557807
Familial cancer of breast Benign rs2236307, rs2236305, rs2236306 RCV005911476
RCV005915853
RCV005917031
Lung cancer Likely benign rs139288377 RCV005907601
MMP14-related disorder Benign rs2236307, rs2236302, rs1042703, rs375367493, rs17879806, rs3751489 RCV003983963
RCV003980801
RCV003975993
RCV003969107
RCV003905802
RCV003910567
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 31308045, 34397867
Adenocarcinoma of Lung Associate 34580602, 37406091
Adenoma Stimulate 28376625
Alzheimer Disease Associate 33282112
Ameloblastoma Inhibit 39941035
Aneurysm Associate 21955474
Anodontia Inhibit 17348445
Aortic Aneurysm Abdominal Stimulate 11496285
Aortic Aneurysm Abdominal Associate 11877705, 17322367, 25993293
Aortic Valve Calcification of Associate 21146836