InnateDB Protein
|
IDBP-52282.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SPINK1
|
Protein Name
|
serine peptidase inhibitor, Kazal type 1
|
Synonyms
|
PCTT; PSTI; Spink3; TATI; TCP;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000296695
|
InnateDB Gene
|
IDBG-52280 (SPINK1)
|
Protein Structure
|
|
Function |
This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature activation of zymogens within the pancreas.
|
Subcellular Localization |
Secreted.
|
Disease Associations |
Pancreatitis, hereditary (PCTT) [MIM:167800]: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. {ECO:0000269PubMed:10691414, ECO:0000269PubMed:10835640, ECO:0000269PubMed:12974284}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Tropical calcific pancreatitis (TCP) [MIM:608189]: Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer. {ECO:0000269PubMed:12011155, ECO:0000269PubMed:12187509}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
GO:0010466
|
negative regulation of peptidase activity
|
GO:0010751
|
negative regulation of nitric oxide mediated signal transduction
|
GO:0050732
|
negative regulation of peptidyl-tyrosine phosphorylation
|
GO:0060046
|
regulation of acrosome reaction
|
GO:0090281
|
negative regulation of calcium ion import
|
GO:1900004
|
negative regulation of serine-type endopeptidase activity
|
GO:2001256
|
regulation of store-operated calcium entry
|
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001239
Proteinase inhibitor I1, Kazal metazoa
IPR002350
Kazal domain
|
PFAM |
PF00050
PF07648
|
PRINTS |
PR00290
|
PIRSF |
|
SMART |
SM00280
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P00995
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
D6RIU5
|
UniProt Splice Variant |
|
Entrez Gene |
6690
|
UniGene |
|
RefSeq |
NP_003113
|
HUGO |
HGNC:11244
|
OMIM |
167790
|
CCDS |
CCDS4286
|
HPRD |
01341
|
IMGT |
|
EMBL |
AC011352
AF286028
BC025790
M11949
M20528
M20529
M20530
M22971
Y00705
|
GenPept |
AAA36521
AAA36522
AAG00531
AAH25790
CAA68697
|
|
|