MMP14
entrez
4323
canonical
uniprot
P50281
canonical
ensembl
ENSG00000157227
resolver
ensp
ENSP00000308208
resolver
enst
ENST00000311852
resolver
genesymbol
MMP14
resolver
hgnc
HGNC:7160
resolver
uniprot
A8K5L0
resolver
uniprot
Q6GSF3
resolver
uniprot
Q92678
resolver
uniprot_entry
MMP14_HUMAN
resolver
uniprot_sec
A8K5L0
resolver
uniprot_sec
Q6GSF3
resolver
uniprot_sec
Q92678
resolver
amino_acid_sequence
MSPAPRPPRCLLLPLLTLGTALASLGSAQSSSFSPEAWLQQYGYLPPGDLRTHTQRSPQSLSAAIAAMQKFYGLQVTGKADADTMKAMRRPRCGVPDKFGAEIKANVRRKRYAIQGLKWQHNEITFCIQNYTPKVGEYATYEAIRKAFRVWESATPLRFREVPYAYIREGHEKQADIMIFFAEGFHGDSTPFDGEGGFLAHAYFPGPNIGGDTHFDSAEPWTVRNEDLNGNDIFLVAVHELGHALGLEHSSDPSAIMAPFYQWMDTENFVLPDDDRRGIQQLYGGESGFPTKMPPQPRTTSRPSVPDKPKNPTYGPNICDGNFDTVAMLRGEMFVFKERWFWRVRNNQVMDGYPMPIGQFWRGLPASINTAYERKDGKFVFFKGDKHWVFDEASLEPGYPKHIKELGRGLPTDKIDAALFWMPNGKTYFFRGNKYYRFNEELRAVDSEYPKNIKVWEGIPESPRGSFMGSDEVFTYFYKGNKYWKFNNQKLKVEPGYPKSALRDWMGCPSGGRPDEGTEEETEVIIIEVDEEGGGAVSAAAVVLPVLLLLLVLAVGLAVFFFRRHGTPRRLLYCQRSLLDKV
uniprot
proteins
disease_involvement
DISEASE: Winchester syndrome (WNCHRS) [MIM:277950]: A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes. {ECO:0000269|PubMed:22922033}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.80
uniprot
proteins
function
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 similarity). Activates progelatinase A/MMP2, thereby acting as a positive regulator of cell growth and migration (PubMed:22065321, PubMed:8015608). Involved in the formation of the fibrovascular tissues in association with pro-MMP2 (PubMed:12714657, PubMed:22065321). May be involved in actin cytoskeleton reorganization by cleaving PTK7 (PubMed:20837484). Acts as a regulator of Notch signaling by mediating cleavage and inhibition of DLL1 (PubMed:21572390). Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiogenesis (PubMed:22330140). Acts as a negative regulator of the GDF15-GFRAL aversive response by mediating cleavage and inactivation of GFRAL (PubMed:35177851). {ECO:0000250|UniProtKB:P53690, ECO:0000269|PubMed:12714657, ECO:0000269|PubMed:20837484, ECO:0000269|PubMed:21572390, ECO:0000269|PubMed:22065321, ECO:0000269|PubMed:22330140, ECO:0000269|PubMed:35177851, ECO:0000269|PubMed:8015608}.
uniprot
proteins
mass_dalton
65894
uniprot
proteins
mutagenesis
MUTAGEN 240; /note="E->A: In MT1 EA mutant; abolished endopeptidase activity."; /evidence="ECO:0000269|PubMed:35177851
uniprot
proteins
post_translational_modification
PTM: The precursor is cleaved by a furin endopeptidase. {ECO:0000269|PubMed:8804434}.; PTM: Tyrosine phosphorylated by PKDCC/VLK. {ECO:0000269|PubMed:25171405}.
uniprot
proteins
protein_family
Peptidase M10A family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12714657
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
18223680
uniprot
proteins
pubmed
20837484
uniprot
proteins
pubmed
21572390
uniprot
proteins
pubmed
22065321
uniprot
proteins
pubmed
22330140
uniprot
proteins
pubmed
22922033
uniprot
proteins
pubmed
25171405
uniprot
proteins
pubmed
35177851
uniprot
proteins
pubmed
7649159
uniprot
proteins
pubmed
7708715
uniprot
proteins
pubmed
7721107
uniprot
proteins
pubmed
8015608
uniprot
proteins
pubmed
8706726
uniprot
proteins
pubmed
8804434
uniprot
proteins
pubmed
9724659
uniprot
proteins
sequence_length
582
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8015608}; Single-pass type I membrane protein {ECO:0000305}. Melanosome {ECO:0000269|PubMed:17081065}. Cytoplasm {ECO:0000269|PubMed:22065321}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). Forms a complex with BST2 and localizes to the cytoplasm (PubMed:17081065). {ECO:0000269|PubMed:17081065}.
uniprot
proteins
transmembrane_region
TRANSMEM 542..562; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins