|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:serine_protease_1
cationic trypsinogen
trypsinogen 1
|
|
gptkbp:associatedWith
|
pancreatic cancer
hereditary pancreatitis
|
|
gptkbp:biologicalProcess
|
serine-type endopeptidase activity
hydrolyzes peptide bonds
|
|
gptkbp:discoveredBy
|
Lehmann et al.
|
|
gptkbp:encodes
|
trypsin-1
|
|
gptkbp:Entrez_Gene_ID
|
5644
|
|
gptkbp:expressedIn
|
pancreas
|
|
gptkbp:firstDescribed
|
1986
|
|
gptkbp:HGNC_ID
|
9477
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRSS1 gene
|
|
gptkbp:involvedIn
|
digestion
|
|
gptkbp:locatedOnChromosome
|
gptkb:7q34
gptkb:chromosome_7
|
|
gptkbp:mutationAssociatedWith
|
gain of function
A121T
A16V
C139S
D22G
G208A
K191R
K23R
N29I
N29T
P36R
R116C
R122C
R122H
T137M
V123M
V189M
V39A
Y37C
Y37H
Y37S
Y37T
Y37V
Y37W
Y37Y
increased trypsin activity
|
|
gptkbp:OMIM
|
276000
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Prss1
|
|
gptkbp:product
|
cationic trypsinogen
|
|
gptkbp:proteinFamily
|
serine protease family
|
|
gptkbp:UniProtID
|
P07477
|
|
gptkbp:bfsParent
|
gptkb:Protease,_serine,_1_(trypsin_1)
|
|
gptkbp:bfsLayer
|
8
|