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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
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
    Physical map
    LOC153770 5q32 similar to protein related with psoriasis LARS 5q32 leucyl-tRNA synthetase KIAA1311 5q32 KIAA1311 protein POU4F3 5q31-q32 POU domain, class 4, transcription factor 3 TCERG1 5q31 transcription elongation regulator 1 (CA150) GPR151 5q32 G protein-coupled receptor 151 PPP2R2B 5q31-q33 protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform MGC22688 5q32 hypothetical protein MGC22688 DPYSL3 5q32 dihydropyrimidinase-like 3 KIAA0555 5q32 dihydropyrimidinase-like 3 SPINK1 5q31 serine protease inhibitor, Kazal type 1 LOC391838 5 similar to low affinity N-formyl peptide receptor SCGB3A2 5q32 secretoglobin, family 3A, member 2 LOC389336 5 similar to AVLV472 LOC391839 5 similar to elongation factor 1 gamma SPINK5 5q32 serine protease inhibitor, Kazal type, 5 LOC340060 5q33.1 similar to alpha-5 collagen ECG2 5q33.1 similar to alpha-5 collagen FLJ13962 5q33.1 hypothetical protein FLJ13962 SP329 5q33.1 hypothetical protein SP329 HTR4 5q31-q33 5-hydroxytryptamine (serotonin) receptor 4 ADRB2 5q31.3 adrenergic, beta-2-, receptor, surface KIAA1985 LOC255187 5q33.1 hypothetical LOC255187 KIAA0843 FLJ36748 5q33.1 hypothetical protein FLJ36748 GRPEL2 5q33.1 GrpE-like 2, mitochondrial (E. coli) MGC3265 5q33.1 hypothetical protein MGC3265 IL17B 5q32-34 interleukin 17B CSNK1A1 13q13 casein kinase 1, alpha 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 454 8.5 79 - 2006 16823394
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     intestinesmall intestine   
     stomach    
    Endocrinepancreas   highly
    Urinarybladder    
     kidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium  
    Epithelialbarrier/lininguroepithelium  
    Epithelialsecretoryglandularendocrine 
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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