TRY1_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PRSS1
, TRP1, TRY1, TRYP1
Protein names and data:
TRY1_HUMAN
, Trypsin-1; 3.4.21.4
, Beta-trypsin; Cationic trypsinogen; Serine protease 1; Trypsin I; Alpha-trypsin chain 1; Alpha-trypsin chain 2; Flags: Precursor
Lenght: 247 a.a.
Mass: 26558 Da
fasta formatted sequence
Function:
Has activity against the synthetic substrates Boc-Phe- Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val- Pro-Arg-Mec. The single-chain form is more active than the two- chain form against all of these substrates.
Catalytic activity:
Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.
Disease:
( OMIM:
167800
276000
)
Pancreatitis (PCTT) [MIM:167800]: A disease characterized by the presence of calculi in pancreatic ducts. It causes severe abdominal pain attacks. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted, extracellular space.
Genetic variants
16 - 16
A -> V (in PCTT; disrupts signal sequence cleavage site). VAR_011693
22 - 22
D -> G (in PCTT; increased rate of activation). VAR_011652
23 - 23
K -> R (in PCTT; increased rate of activation). VAR_011653
29 - 29
N -> I (in PCTT). VAR_006720
29 - 29
N -> T (in PCTT). VAR_012712
54 - 54
N -> S (in PCTT; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation). VAR_037908
79 - 79
E -> K (in PCTT; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect; dbSNP:rs28934902). VAR_037909
28934902
104 - 104
L -> P (in PCTT). VAR_011654
116 - 116
R -> C (in PCTT). VAR_011655
122 - 122
R -> C (in PCTT; suppresses an autocleavage site). VAR_012713
122 - 122
R -> H (in PCTT; suppresses an autocleavage site which is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis). VAR_006721
137 - 137
T -> M (in a colorectal cancer sample; somatic mutation). VAR_036299
139 - 139
C -> F (in PCTT). VAR_011656
Database cross-references
UniProt:
P07477
Ensembl:
ENST00000311737
Ensembl:
ENST00000561535
MIM:
167800
MIM:
276000
neXtProt:
NX_P07477
Antibodypedia:
P07477
(may not find the protein thus also not any antibody)
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