gptkbp:instanceOf
|
gptkb:gene
|
gptkbp:alias
|
gptkb:SFD
K222
TIMP metallopeptidase inhibitor 3
|
gptkbp:alternativeSplicing
|
yes
|
gptkbp:associatedWith
|
gptkb:Sorsby_fundus_dystrophy
age-related macular degeneration
|
gptkbp:biologicalProcess
|
extracellular matrix organization
cell-matrix adhesion
metalloproteinase inhibitor activity
negative regulation of angiogenesis
negative regulation of endopeptidase activity
|
gptkbp:cellularComponent
|
extracellular matrix
extracellular space
|
gptkbp:clinicalTrialPhase
|
available for Sorsby fundus dystrophy
|
gptkbp:discoveredBy
|
1992
|
gptkbp:encodes
|
TIMP3 protein
|
gptkbp:Entrez_Gene_ID
|
7078
|
gptkbp:expressedIn
|
various tissues
|
gptkbp:fullName
|
Tissue Inhibitor of Metalloproteinases 3
|
gptkbp:function
|
inhibits matrix metalloproteinases
regulates extracellular matrix composition
|
gptkbp:hasTranscriptVariant
|
multiple
|
gptkbp:HGNC_ID
|
gptkb:HGNC:11821
|
https://www.w3.org/2000/01/rdf-schema#label
|
TIMP3 gene
|
gptkbp:length
|
211 amino acids
5 exons
|
gptkbp:locatedOnChromosome
|
22
22q12.3
|
gptkbp:mutationAssociatedWith
|
retinal degeneration
|
gptkbp:OMIM
|
188826
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse
|
Timp3
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
gptkb:Focal_adhesion
gptkb:PI3K-Akt_signaling_pathway
|
gptkbp:postTranslationalModification
|
disulfide bonds
glycosylated
|
gptkbp:product
|
contains C-terminal domain
contains NTR domain
|
gptkbp:proteinFamily
|
gptkb:TIMP_family
|
gptkbp:proteinSecretion
|
secreted protein
|
gptkbp:regulates
|
apoptosis
angiogenesis
inflammation
transcriptionally regulated
|
gptkbp:UniProtID
|
gptkb:P35625
|
gptkbp:bfsParent
|
gptkb:TIMP3
|
gptkbp:bfsLayer
|
7
|