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FLASH GENE

Symbol

SPINK1

contributors: mct - updated : 22-11-2010

HGNC name	serine protease inhibitor, Kazal type 1
HGNC id	11244

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PCI2 pancreatitis, chronic, idiopathic, familial TPCP tropical calcific pancreatitis
Location	5q32      Physical location : 147.204.142 - 147.211.260
Synonym name	pancreatic secretory trypsin inhibitor
	tumor-associated trypsin inhibitor
Synonym symbol(s)	PCTT, PSTI, TATI, IPK1, Spink3

DNA

TYPE	functioning gene
STRUCTURE	7.12 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

tentative : very preliminary evidence

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003122 5 - 454 NP_003113 8.5 79 - 2006 16823394

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon       intestine small intestine         stomach         Endocrine pancreas       highly Urinary bladder           kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium     Epithelial barrier/lining uroepithelium     Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

kazal types protease inhibitor domain

HOMOLOGY

interspecies

homolog to C.elegans f41c6,6

Homologene

FAMILY

kazal serine protease inhibitor family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	trypsin inhibitor preventing the trypsin-catalyzed premature activation of zymogens within the pancreas
	provides the first line of defense against prematurely activated trypsinogen by physically blocking the active site of trypsin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCI2 , TPCP

related resource

Database of genetic variants in patients

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     large genomic deletion in chronic pancreatis constitutional   deletion     deletion of the entire SPINK1 gene with a CFTR i familial chronic pancreatitis tumoral     --other   expression, found in approximately 10p 100 of prostate cancers, associated with aggressive form of the disease

Susceptibility

to chronic pancreatitis and to fibrocalculous pancreatic diabetes (FCPD) to acute pancreatitis to pancreatic cancer

Variant & Polymorphism other	215 G-A and N34S alteration predisposing to chronic pancreatitis idiopathic and familial
	variant N34S predisposing to FCPD and pancreatic cancer associated with chronic calcifying pancreatitis
	N34S mutation enhances the susceptibility to alcohol-induced acute pancreatitis
	IVS3+2T>C mutation in patients with chronic pancreatitis bu with phenotypic variability
	N34S and IVS3+2T>C mutation are an important risk factor for the development of pancreatic cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS