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Literature summary for 3.4.24.80 extracted from

  • de Vos, I.J.; Tao, E.Y.; Ming Ong, S.L.; Goggi, J.L.; Scerri, T.; Wilson, G.R.; Low, C.G.M.; Wong, A.S.W.; Grussu, D.; Stegmann, A.P.A.; van Geel, M.; Janssen, R.; Amor, D.J.; Bahlo, M.; Dunn, N.R.; Carney, T.J.; Lockhart, P.J.; Coull, B.J.; van Steensel, M.A.M.
    Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype (2018), Hum. Mol. Genet., 27, 2775-2788 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.24.80

Activating Compound

Activating Compound Comment Organism Structure
additional information MMP14 requires removal of an N-terminal pro-domain sequence for its activation Homo sapiens
additional information MMP14 requires removal of an N-terminal pro-domain sequence for its activation Danio rerio

Cloned(Commentary)

Cloned (Comment) Organism
gene MMP14, recombinant expression of N-terminally HA3-tagged and C-terminally EGFP-tagged wild-type and mutant R111H enzymes in in MRC-5V1 immortalized human fetal lung fibroblasts, in which mutant protein localization is unlikely to be affected by dimerization with endogenous MMP14 Homo sapiens
gene mmp14a, recombinant expression of C-terminally HA-tagged enzyme in in MRC-5V1 immortalized human fetal lung fibroblasts, in which mutant protein localization is unlikely to be affected by dimerization with endogenous MMP14 Danio rerio
gene mmp14b, recombinant expression of C-terminally HA-tagged enzyme in in MRC-5V1 immortalized human fetal lung fibroblasts, in which mutant protein localization is unlikely to be affected by dimerization with endogenous MMP14 Danio rerio

Protein Variants

Protein Variants Comment Organism
additional information generation of a mmp14a/b knockout zebrafish model, phenotype, overview Danio rerio
R111H site-directed mutagenesis, MMP14 R111H enzyme is processed normally in human MRC-5V1 cells and is trafficked to the cell surface, the mutation partially impairs the catalytic activity of MMP14, thus MMP14 R111H retains partial gelatinolytic and pro-MMP2 hydrolyzing activity. The mutant demonstrates significantly reduced migratory behavior when compared with wild-type MMP14 Homo sapiens
R92C site-directed mutagenesis, the mutation impairs cell surface localization. The mutant demonstrates significantly reduced migratory behavior when compared with wild-type MMP14 Homo sapiens
S466P site-directed mutagenesis, the mutation impairs cell surface localization Homo sapiens
T17R site-directed mutagenesis, the mutation impairs cell surface localization, MMP14 T17R distributed throughout the cytoplasm. The mutant demonstrates significantly reduced migratory behavior when compared with wild-type MMP14 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cell surface
-
 Homo sapiens 9986
-
cell surface
-
 Danio rerio 9986
-
membrane membrane-bound Homo sapiens 16020
-
membrane membrane-bound Danio rerio 16020
-
additional information MMP14 encodes a membrane-bound metalloprotease that requires removal of an N-terminal pro-domain sequence for its activation and presentation at the cell surface. In vitro modelling for assessing MMP14 processing and subcellular localization Homo sapiens
-
-
additional information MMP14 encodes a membrane-bound metalloprotease that requires removal of an N-terminal pro-domain sequence for its activation and presentation at the cell surface. In vitro modelling for assessing MMP14 processing and subcellular localization Danio rerio
-
-

Metals/Ions

Metals/Ions Comment Organism Structure
Zn2+ zinc-dependent endopeptidase Danio rerio
Zn2+ a zinc-dependent endopeptidase Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
Collagen + H2O Homo sapiens
-
 ?
-
 ?
Collagen + H2O Danio rerio
-
 ?
-
 ?
Gelatin + H2O Homo sapiens
-
 ?
-
 ?
Gelatin + H2O Danio rerio
-
 ?
-
 ?
proMMP-2 + H2O Homo sapiens
-
 MMP-2 + pro-peptide
-
 ?

Organism

Organism UniProt Comment Textmining
Danio rerio Q7T2J1
-
-
Danio rerio Q7T2J2
-
-
Homo sapiens P50281
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
proteolytic modification MMP14 requires removal of an N-terminal pro-domain sequence for its activation and presentation at the cell surface Danio rerio
proteolytic modification MMP14 requires removal of an N-terminal pro-domain sequence for its activation and presentation at the cell surface. The pro-domain has two furin cleavage motifs, R89-R-P-R-C93 and R108-R-K-R-Y112 Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
Collagen + H2O
-
 Homo sapiens ?
-
 ?
Collagen + H2O
-
 Danio rerio ?
-
 ?
Gelatin + H2O
-
 Homo sapiens ?
-
 ?
Gelatin + H2O
-
 Danio rerio ?
-
 ?
proMMP-2 + H2O
-
 Homo sapiens MMP-2 + pro-peptide
-
 ?

Synonyms

Synonyms Comment Organism
MMP14
-
 Homo sapiens
MMP14
-
 Danio rerio
mmp14a
-
 Danio rerio
mmp14b
-
 Danio rerio

General Information

General Information Comment Organism
malfunction functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome (WS) phenotype. The WS phenotype includes craniofacial malformations, kyphosis, short-stature, and reduced bone density owing to defective collagen remodeling Homo sapiens
malfunction membranous ossifying Weberian vertebral bodies in mmp14a/b KO fish are irregularly shaped, with clusters of multinucleated cells in their dorsal aspect. Mutant mmp14a/b KO fish have abnormal endochondral and membranous ossification, but collagen deposition is unaffected by mmp14a/b KO Danio rerio