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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPINK1 Gene

protein-coding   GIFtS: 60
GCID: GC05M147184

Serine Peptidase Inhibitor, Kazal Type 1

(Previous names: serine protease inhibitor, Kazal type 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kazal Type 11 2     Tumor-Associated Trypsin Inhibitor2 3
PSTI2 3 5     PCTT2 5
TATI2 3 5     Spink32
Serine Protease Inhibitor, Kazal Type 11 2     TCP2
Serine Protease Inhibitor Kazal-Type 12 3     Pancreatic Secretory Trypsin Inhibitor2

External Ids:    HGNC: 112441   Entrez Gene: 66902   Ensembl: ENSG000001642667   OMIM: 1677905   UniProtKB: P009953   

Export aliases for SPINK1 gene to outside databases

Previous GC identifers: GC05M147236 GC05M147785 GC05M147232 GC05M142351


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPINK1 Gene:
The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into
pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of
zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary
pancreatitis and tropical calcific pancreatitis. (provided by RefSeq, Oct 2008)

GeneCards Summary for SPINK1 Gene: 
SPINK1 (serine peptidase inhibitor, Kazal type 1) is a protein-coding gene. Diseases associated with SPINK1 include tropical calcific pancreatitis, and alcoholic pancreatitis, and among its related super-pathways are Integrated Cancer pathway. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995
Function: This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature
activation of zymogens within the pancreas

Gene Wiki entry for SPINK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_029289.11  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPINK1 gene promoter:
         COUP-TF1   p300   Brachyury   POU3F1   COUP   HNF-4alpha2   HNF-3beta   HNF-4alpha1   MZF-1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPINK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

SPINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M147184:  view genomic region     (about GC identifiers)

Start:
147,204,131 bp from pter      End:
147,211,349 bp from pter
Size:
7,219 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995 (See protein sequence)
Recommended Name: Pancreatic secretory trypsin inhibitor precursor  
Size: 79 amino acids; 8507 Da
Subcellular location: Secreted
3 PDB 3D structures from and Proteopedia for SPINK1:
1CGI (3D)        1CGJ (3D)        1HPT (3D)    

Explore the universe of human proteins at neXtProt for SPINK1: NX_P00995

Explore proteomics data for SPINK1 at MOPED 

SPINK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SPINK1 Protein Expression

REFSEQ proteins: NP_003113.2  
ENSEMBL proteins: 
 ENSP00000296695   ENSP00000427376  

Human Recombinant Protein Products for SPINK1: 
Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for SPINK1
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OriGene Protein Over-expression Lysate for SPINK1
OriGene Custom MassSpec 
OriGene Custom Protein Services for SPINK1
GenScript Custom Purified and Recombinant Proteins Services for SPINK1
Novus Biologicals SPINK1 Proteins
Novus Biologicals SPINK1 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for SPINK1 

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

SPINK1 for ontologies           About GeneDecksing



SPINK1 Antibody Products: 
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OriGene Custom Antibody Services for SPINK1
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Novus Biologicals SPINK1 Antibodies
Abcam antibodies for SPINK1
Cloud-Clone Corp. Antibodies for SPINK1 
Search ThermoFisher Antibodies for SPINK1
LSBio Antibodies in human, mouse, rat for SPINK1 

Assay Products for SPINK1: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for SPINK1
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GenScript Custom Assay Services for SPINK1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for SPINK1 
Cloud-Clone Corp. CLIAs for SPINK1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
SPINK: Serine peptidase inhibitors, Kazal type

2 InterPro protein domains:
 IPR002350 Kazal_dom
 IPR001239 Prot_inh_Kazal-m

Graphical View of Domain Structure for InterPro Entry P00995

ProtoNet protein and cluster: P00995

1 Blocks protein domain: IPB001239 Kazal-type serine protease inhibitor signature

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995
Similarity: Contains 1 Kazal-like domain


SPINK1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: ISK1_HUMAN, P00995
Function: This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature
activation of zymogens within the pancreas

     Genatlas biochemistry entry for SPINK1:
serine protease inhibitor,Kazal type 1,unlikely to be involved in hereditary and sporadic pancreatitis

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004866endopeptidase inhibitor activity TAS7142173
GO:0004867serine-type endopeptidase inhibitor activity IEA--
GO:0005515protein binding IPI14507909
GO:0030414peptidase inhibitor activity ----
     
SPINK1 for ontologies           About GeneDecksing


Phenotypes:
     8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Spink3):
 digestive/alimentary  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
 immune system  integument  mortality/aging 

SPINK1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Spink3tm1Kymm for SPINK1

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SPINK1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPINK1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPINK1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPINK1 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPINK1
1 QIAGEN miScript miRNA Assays for microRNA that regulate SPINK1:
hsa-miR-4272
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SPINK1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPINK1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for SPINK1
Sirion Biotech Customized adenovirus for overexpression of SPINK1

Clone
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Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for SPINK1 (see all 6)
OriGene ORF clones in mouse, rat for SPINK1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: SPINK1 (NM_003122)
Sino Biological Human cDNA Clone for SPINK1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPINK1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINK1
Sirion Biotech Customized lentivirus for stable overexpression of SPINK1 
                     Customized lentivirus expression plasmids for stable overexpression of SPINK1 

Cell Line
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GenScript Custom overexpressing Cell Line Services for SPINK1
Search LifeMap BioReagents cell lines for SPINK1
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINK1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SPINK1 About                                                                                                See pathways by source

SuperPathContained pathways About
1Prostate Cancer
Prostate Cancer0.32


1 BioSystems Pathway for SPINK1
    Prostate Cancer



Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPINK1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for SPINK1 (P009952, 3 ENSP000002966954) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CTRCQ998953, ENSP000003651164I2D: score=2 STRING: ENSP00000365116
ELNP155023, ENSP000002520344I2D: score=2 STRING: ENSP00000252034
NRSN1Q8IZ573, ENSP000003677524I2D: score=1 STRING: ENSP00000367752
TMPRSS15P980733, ENSP000002848854I2D: score=1 STRING: ENSP00000284885
--P007662MINT-25044
About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0010466negative regulation of peptidase activity ----
GO:0010751negative regulation of nitric oxide mediated signal transduction IEA--
GO:0010951negative regulation of endopeptidase activity ----
GO:0050732negative regulation of peptidyl-tyrosine phosphorylation IEA--
GO:0060046regulation of acrosome reaction IEA--

SPINK1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SPINK1 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPINK1 (ISK1)

5 Novoseek inferred chemical compound relationships for SPINK1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
trypsinogen 94.4 64 16327984 (5), 11938439 (2), 12529713 (2), 12939655 (2) (see all 39)
serine 67.5 109 1669448 (3), 7510795 (3), 19737965 (2), 15980664 (2) (see all 57)
creatinine 4.47 12 14633748 (3), 9453997 (2), 14733412 (2), 11499560 (1) (see all 7)
calcium 0 3 16497624 (1), 14641934 (1), 12483248 (1)
fluoride 0 3 14633748 (1), 16923094 (1)

Search CenterWatch for drugs/clinical trials and news about SPINK1 / ISK1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPINK1 gene: 
NM_003122.3  

Unigene Cluster for SPINK1:

Serine peptidase inhibitor, Kazal type 1
Hs.407856  [show with all ESTs]
Unigene Representative Sequence: AA652500
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000296695(uc003los.2) ENST00000505722 ENST00000510027
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPINK1
1 QIAGEN miScript miRNA Assays for microRNA that regulate SPINK1:
hsa-miR-4272
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SPINK1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPINK1
Clone
Products:
     
OriGene clones in human, mouse for SPINK1 (see all 6)
OriGene ORF clones in mouse, rat for SPINK1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: SPINK1 (NM_003122)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPINK1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINK1
Sirion Biotech Customized lentivirus for stable overexpression of SPINK1 
                     Customized lentivirus expression plasmids for stable overexpression of SPINK1 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for SPINK1
OriGene qSTAR qPCR primer pairs in human, mouse for SPINK1
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPINK1
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPINK1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINK1

Additional mRNA sequence: 

BC025790.1 Y00705.1 

4 DOTS entries:

DT.412800  DT.100650810  DT.100646430  DT.427385 

24/91 AceView cDNA sequences (see all 91):

BU581710 NM_003122 BM843311 AA436233 CB159576 BU581519 BC025790 BM843236 
CK905024 BG141336 AI362470 AI362622 BM855672 AA845156 BM855648 BM090732 
BM830452 BX498806 AY358656 AW005713 AA612829 Y00705 AA436232 NM_206966 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPINK1 expression in normal human tissues (normalized intensities)      SPINK1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGGTAACAG
SPINK1 Expression
About this image


SPINK1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/10 selected tissues (see all 10) fully expand
 
 Pancreas (Endocrine System)    fully expand to see all 3 entries
         pancreas ; exocrine glandular cells   
         Pancreatic Islet   
 
 Kidney (Urinary System)
         Presumptive Podocytes Podocyte Layer
 
 Bone (Muscoskeletal System)
         HyStem+BMP4-induced E15 cells
 
 Mesoderm (Gastrulation Derivatives)
         PureStem Z11, Meso Progenitor
 
 Cartilage (Muscoskeletal System)
         HyStem+BMP4-induced E15 cells

See SPINK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPINK1

SOURCE GeneReport for Unigene cluster: Hs.407856
    SABiosciences Expression via Pathway-Focused PCR Array including SPINK1: 
          Lung Cancer in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for SPINK1
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPINK1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINK1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINK1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for SPINK1 gene from 1/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spink31 , 5 serine peptidase inhibitor, Kazal type 31, 5 74.26(n)1
69.62(a)1
  18 (23.47 cM)5
207301  NM_009258.51  NP_033284.11 
 437280695 


ENSEMBL Gene Tree for SPINK1 (if available)
TreeFam Gene Tree for SPINK1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SPINK1 gene
10 SIMAP similar genes for SPINK1 using alignment to 4 protein entries:     ISK1_HUMAN (see all proteins):
SPINK9    SPINK5    SPINK6    AGRN    SPINK2    SPINK14
TMEFF2    SPINK4    HEL-S-48e    SPINK13

SPINK1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/211 SNPs in SPINK1 are shown (see all 211)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0116884
Pancreatitis (PCTT)4--see VAR_0116882 L P mis40--------
rs171073151,2,4
C,F,HTropical calcific pancreatitis (TCP)4 pathogenic1147483387(-) TTACAA/GTGAAC 2 N S mis1 ese313Minor allele frequency- G:0.01NA NS EA EU 7121
rs358777201,2,4
C,FPancreatitis (PCTT)4 probable-non-pathogenic1147486814(-) GCCTTG/CGCCCT 2 /F /L mis15Minor allele frequency- C:0.03NA WA EU 6057
rs1119668331,2
C,Fnon-pathogenic1147483325(+) ATTGGA/C/GATAAG 2 P S mis13CSA NA EU 5856
rs1048939391,2
Cpathogenic1147486809(-) GGCCCC/G/TGTTGA 3 P R L mis10--------
rs1048939381,2
Cpathogenic1147486848(-) AGCCAC/TGAAGG 2 T M mis10--------
rs1416342961,2
C,Funknown1147483294(+) CTCACC/TGATTT 2 Q R mis12Minor allele frequency- T:0.00NA EU 5673
VAR_0116904
----see VAR_0116902 P S mis40--------
rs1132328021,2
F--147205106(+) TTCAAG/ATGATT 1 -- int11Minor allele frequency- A:0.50CSA 2
rs1840478431,2
--147479479(+) CCAGCC/TACAAT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for SPINK1 (147204131 - 147211349 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for SPINK1: --

Human Gene Mutation Database (HGMD): SPINK1

Locus Specific Mutation Databases (LSDB): SPINK1
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing SPINK1
DNA2.0 Custom Variant and Variant Library Synthesis for SPINK1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 167790   
OMIM disorders: 167800  608189  
UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995
  • 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
  • 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. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry

  • 20/53 diseases for SPINK1 (see all 53):    About MalaCards
    tropical calcific pancreatitis    alcoholic pancreatitis    parotitis    biliary tract disease
    spink1-related hereditary pancreatitis    hereditary pancreatitis    acute pancreatitis    pancreatic diseases
    recurrent acute pancreatitis    pancreatitis    ovarian cyst    citrullinemia
    intestinal pseudo-obstruction    netherton syndrome    pancreatic cancer    fibrosarcoma
    primary hyperparathyroidism    hypercalcemia    cervical adenocarcinoma    lactic acidosis

    3 diseases from the University of Copenhagen DISEASES database for SPINK1:
    Pancreatitis     Pancreatic cancer     Cystic fibrosis

    SPINK1 for disorders           About GeneDecksing

    10/55 Novoseek inferred disease relationships for SPINK1 gene (see all 55)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreatitis hereditary 92.6 14 17274009 (2), 15084977 (2), 17613931 (1), 19106771 (1), 14722925 (1), 12120224 (1), 12120222 (1), 15082592 (1), 18663346 (1), 15528021 (1) (see top 4)
    chronic pancreatitis 91.4 145 11578065 (5), 11950817 (4), 14641934 (4), 18978175 (3), 12452372 (3), 11938439 (2), 14688470 (2), 17641557 (2), 19844201 (2), 8207049 (2), 17525091 (2), 16981266 (2), 12120224 (2), 18336671 (2), 11916201 (2), 17681820 (2), 17489851 (2), 15528018 (2), 15329520 (2), 12939655 (2), 18955007 (2), 15764155 (2), 11950815 (2), 16823394 (2), 11355022 (1), 12120220 (1), 15957615 (1), 16187186 (1), 17274009 (1), 15782101 (1), 15725720 (1), 15753612 (1), 15513391 (1), 12560855 (1), 11578072 (1), 11343313 (1), 19565042 (1), 18953248 (1), 17238043 (1), 16632097 (1), 15749232 (1), 12853682 (1), 12743777 (1), 19657220 (1), 15910626 (1), 14576495 (1), 12120202 (1), 11414764 (1), 16954950 (1), 15980664 (1), 15980659 (1), 11265668 (1), 19593166 (1), 17003641 (1), 19888199 (1), 18206817 (1), 16699518 (1), 14722925 (1), 12629264 (1), 12560856 (1), 19096130 (1), 18442214 (1), 17204147 (1), 16958672 (1), 10982753 (1), 10835640 (1), 20059346 (1), 19433603 (1), 18414673 (1), 17446841 (1), 16632094 (1), 15875176 (1), 14526128 (1), 12649567 (1), 16497624 (1), 19502653 (1), 19944211 (1) (see top 4)
    pancreatitis 86.9 105 12560856 (4), 18076731 (4), 10982753 (3), 12743777 (3), 17003641 (3), 16958672 (3), 18852684 (3), 15980664 (3), 19593166 (3), 15758663 (2), 12227654 (2), 16354799 (2), 14526128 (2), 11916201 (2), 16954950 (2), 15084977 (2), 12483248 (2), 15528018 (2), 15238770 (2), 12649567 (1), 12825076 (1), 17318339 (1), 18680693 (1), 15753612 (1), 17033331 (1), 12676913 (1), 12011155 (1), 12120224 (1), 12120222 (1), 1723534 (1), 19404200 (1), 15329520 (1), 12452372 (1), 12120202 (1), 11368029 (1), 17163998 (1), 19077465 (1), 18442214 (1), 17981921 (1), 16823394 (1), 12853682 (1), 17681820 (1), 16958673 (1), 15725720 (1), 14507909 (1), 17641557 (1), 15957615 (1), 18706099 (1), 17990360 (1), 14688470 (1) (see top 4)
    acute recurrent pancreatitis 83.3 4 19844201 (1), 19593166 (1), 20335783 (1)
    pancreatitis alcoholic 77.9 4 18182741 (2), 18336667 (1), 12822871 (1)
    acute pancreatitis 67.5 14 15782101 (2), 15238770 (2), 17625278 (1), 19844201 (1), 20110462 (1), 15367892 (1), 16354799 (1), 16291148 (1), 18617776 (1) (see top 4)
    pancreatic diseases 66.9 9 1791319 (2), 15238770 (1), 1780691 (1), 12120202 (1), 12452372 (1), 1723534 (1), 12120224 (1) (see top 4)
    pancreatic cancer 66.3 33 19737965 (4), 8207049 (4), 15084977 (4), 12649567 (3), 15764155 (3), 1723534 (2), 11347977 (2), 14688470 (1), 8195643 (1), 17653660 (1), 17238043 (1), 17072959 (1), 7900570 (1) (see top 4)
    cystic fibrosis 63.9 43 11938439 (2), 12939655 (2), 1886891 (1), 15758663 (1), 19844201 (1), 12227654 (1), 14526128 (1), 15528021 (1), 15957615 (1), 16508289 (1), 18953248 (1), 12560855 (1), 16301844 (1), 20059346 (1), 17238031 (1), 17204147 (1), 17981921 (1), 18336667 (1), 17033331 (1), 14752225 (1), 12120222 (1), 17003641 (1), 12828958 (1), 11916201 (1), 12560856 (1), 18206817 (1), 12452372 (1) (see top 4)
    pancreas divisum 61.2 6 19593166 (3), 17625278 (1)

    Genetic Association Database (GAD): SPINK1
    Human Genome Epidemiology (HuGE) Navigator: SPINK1 (71 documents)

    Export disorders for SPINK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPINK1 gene, integrated from 9 sources (see all 315):
    (articles sorted by number of sources associating them with SPINK1)
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    1. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. (PubMed id 10835640)1, 2, 4, 9 Witt H.... Becker M. (2000)
    2. SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. (PubMed id 12187509)1, 2, 4 Hassan Z.... Hitman G.A. (2002)
    3. [Mutations of SPINK1 and PRSS1 gene in Korean patients with chronic pancreatitis] (PubMed id 15329520)1, 4, 9 Lee K.H....Kim C.Y. (2004)
    4. SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan. (PubMed id 18336671)1, 4, 9 Shimosegawa T....Masamune A. (2008)
    5. Common SPINK-1 mutations do not predispose to the dev elopment of non-alcoholic fatty liver disease. (PubMed id 19502653)1, 4, 9 Oruc N....Akarca U.S. (2009)
    6. Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis. (PubMed id 15980664)1, 4, 9 Kume K....Shimosegawa T. (2005)
    7. The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. (PubMed id 15238770)1, 4, 9 Felley C....Frossard J.L. (2004)
    8. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. (PubMed id 11950817)1, 4, 9 Drenth J.P....Jansen J.B. (2002)
    9. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. (PubMed id 17003641)1, 4, 9 Keiles S. and Kammesheidt A. (2006)
    10. SPINK1 gene mutations and pancreatitis in Japan. (PubMed id 16958672)1, 4, 9 Shimosegawa T....Masamune A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6690 HGNC: 11244 AceView: SPINK1andMGC23985 Ensembl:ENSG00000164266 euGenes: HUgn6690
    ECgene: SPINK1 H-InvDB: SPINK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPINK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPINK1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPINK1

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    Patent Information for SPINK1 gene:
    Search GeneIP for patents involving SPINK1

    GeneCards and IP:
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