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Aliases for SPINK1 Gene

Aliases for SPINK1 Gene

  • Serine Peptidase Inhibitor, Kazal Type 1 2 3
  • PSTI 3 4 6
  • TATI 3 4 6
  • Serine Protease Inhibitor, Kazal Type 1 2 3
  • Tumor-Associated Trypsin Inhibitor 3 4
  • PCTT 3 6
  • TCP 3 6
  • Pancreatic Secretory Trypsin Inhibitor 3
  • Serine Protease Inhibitor Kazal-Type 1 4
  • Spink3 3

External Ids for SPINK1 Gene

Previous GeneCards Identifiers for SPINK1 Gene

  • GC05M147236
  • GC05M147232
  • GC05M147184
  • GC05M142351

Summaries for SPINK1 Gene

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 pancreatitis, hereditary and tropical calcific pancreatitis. Among its related pathways are Prostate Cancer. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK1 Gene

Genomics for SPINK1 Gene

Regulatory Elements for SPINK1 Gene

Genomic Location for SPINK1 Gene

Start:
147,824,568 bp from pter
End:
147,839,231 bp from pter
Size:
14,664 bases
Orientation:
Minus strand

Genomic View for SPINK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPINK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK1 Gene

Proteins for SPINK1 Gene

  • Protein details for SPINK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00995-ISK1_HUMAN
    Recommended name:
    Pancreatic secretory trypsin inhibitor
    Protein Accession:
    P00995
    Secondary Accessions:

    Protein attributes for SPINK1 Gene

    Size:
    79 amino acids
    Molecular mass:
    8507 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SPINK1 Gene

neXtProt entry for SPINK1 Gene

Proteomics data for SPINK1 Gene at MOPED

Post-translational modifications for SPINK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPINK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINK1 Gene

Domains for SPINK1 Gene

Gene Families for SPINK1 Gene

HGNC:
  • SPINK :Serine peptidase inhibitors, Kazal type

Protein Domains for SPINK1 Gene

Graphical View of Domain Structure for InterPro Entry

P00995

UniProtKB/Swiss-Prot:

ISK1_HUMAN :
  • P00995
Domain:
  • Contains 1 Kazal-like domain.
genes like me logo Genes that share domains with SPINK1: view

Function for SPINK1 Gene

Molecular function for SPINK1 Gene

GENATLAS Biochemistry: serine protease inhibitor,Kazal type 1,unlikely to be involved in hereditary and sporadic pancreatitis
UniProtKB/Swiss-Prot Function: This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature activation of zymogens within the pancreas

Gene Ontology (GO) - Molecular Function for SPINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 7142173
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI 14507909
GO:0030414 peptidase inhibitor activity --
genes like me logo Genes that share ontologies with SPINK1: view
genes like me logo Genes that share phenotypes with SPINK1: view

Animal Models for SPINK1 Gene

MGI Knock Outs for SPINK1:

miRNA for SPINK1 Gene

miRTarBase miRNAs that target SPINK1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SPINK1 Gene

Localization for SPINK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPINK1 Gene COMPARTMENTS Subcellular localization image for SPINK1 gene
Compartment Confidence
extracellular 5
cytosol 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SPINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with SPINK1: view

Pathways for SPINK1 Gene

SuperPathways for SPINK1 Gene

Superpath Contained pathways
1 Prostate Cancer
genes like me logo Genes that share pathways with SPINK1: view

Pathways by source for SPINK1 Gene

1 BioSystems pathway for SPINK1 Gene

Gene Ontology (GO) - Biological Process for SPINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity --
GO:0010751 negative regulation of nitric oxide mediated signal transduction IEA --
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation IEA --
GO:0060046 regulation of acrosome reaction IEA --
GO:0090281 negative regulation of calcium ion import IEA --
genes like me logo Genes that share ontologies with SPINK1: view

Compounds for SPINK1 Gene

(5) Novoseek inferred chemical compound relationships for SPINK1 Gene

Compound -log(P) Hits PubMed IDs
trypsinogen 94.4 48
serine 67.5 65
creatinine 4.47 11
calcium 0 3
fluoride 0 2
genes like me logo Genes that share compounds with SPINK1: view

Transcripts for SPINK1 Gene

mRNA/cDNA for SPINK1 Gene

(91) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPINK1 Gene

Serine peptidase inhibitor, Kazal type 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK1 Gene

No ASD Table

Relevant External Links for SPINK1 Gene

GeneLoc Exon Structure for
SPINK1
ECgene alternative splicing isoforms for
SPINK1

Expression for SPINK1 Gene

mRNA expression in normal human tissues for SPINK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINK1 Gene

This gene is overexpressed in Pancreas (47.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPINK1 Gene

SOURCE GeneReport for Unigene cluster for SPINK1 Gene Hs.407856

genes like me logo Genes that share expressions with SPINK1: view

No data available for mRNA Expression by UniProt/SwissProt for SPINK1 Gene

Orthologs for SPINK1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SPINK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK1 35
  • 99.16 (n)
  • 98.73 (a)
SPINK1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPINK1 35
  • 83.12 (n)
  • 73.42 (a)
SPINK1 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPINK1 35
  • 78.48 (n)
  • 70.89 (a)
SPINK1 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spink3 35
  • 74.26 (n)
  • 69.62 (a)
Spink3 16
Spink3 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SPINK1 36
  • 51 (a)
OneToOne
Species with no ortholog for SPINK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SPINK1 Gene

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

Paralogs for SPINK1 Gene

Selected SIMAP similar genes for SPINK1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SPINK1: view

No data available for Paralogs for SPINK1 Gene

Variants for SPINK1 Gene

Sequence variations from dbSNP and Humsavar for SPINK1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs11319 -- 147,824,629(-) GTCAC(C/T)GCGAG utr-variant-3-prime
rs1804247 -- 147,824,658(-) TGAGA(A/G)CCAAG utr-variant-3-prime
rs1897577 -- 147,826,863(+) TTACA(C/G)AAAAG intron-variant
rs2033457 -- 147,829,128(-) TTTAA(A/G)AGGTA intron-variant
rs2436411 -- 147,826,120(+) TCCCT(A/T)TGAAG intron-variant

Relevant External Links for SPINK1 Gene

HapMap Linkage Disequilibrium report
SPINK1
Human Gene Mutation Database (HGMD)
SPINK1
Locus Specific Mutation Databases (LSDB)
SPINK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPINK1 Gene

Disorders for SPINK1 Gene

(2) OMIM Diseases for SPINK1 Gene (167790)

UniProtKB/Swiss-Prot

ISK1_HUMAN
  • Pancreatitis, hereditary (PCTT) [MIM:167800]: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. {ECO:0000269 PubMed:10691414, ECO:0000269 PubMed:10835640, ECO:0000269 PubMed: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:0000269 PubMed:12011155, ECO:0000269 PubMed:12187509}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SPINK1 Gene

(55) Novoseek inferred disease relationships for SPINK1 Gene

Disease -log(P) Hits PubMed IDs
pancreatitis hereditary 92.6 12
chronic pancreatitis 91.4 110
pancreatitis 86.9 80
acute recurrent pancreatitis 83.3 3
pancreatitis alcoholic 77.9 4

Relevant External Links for SPINK1

Genetic Association Database (GAD)
SPINK1
Human Genome Epidemiology (HuGE) Navigator
SPINK1
genes like me logo Genes that share disorders with SPINK1: view

Publications for SPINK1 Gene

  1. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. (PMID: 10835640) Witt H. … Becker M. (Nat. Genet. 2000) 3 4 23 48
  2. Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. (PMID: 11938439) AudrAczet M.P. … FAcrec C. (Eur. J. Hum. Genet. 2002) 3 23 48
  3. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. (PMID: 11950815) Threadgold J. … Neoptolemos J.P. (Gut 2002) 3 23 48
  4. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. (PMID: 11950817) Drenth J.P. … Jansen J.B. (Gut 2002) 3 23 48
  5. Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. (PMID: 12011155) Chandak G.R. … Singh L. (J. Med. Genet. 2002) 3 4 23

Products for SPINK1 Gene

Sources for SPINK1 Gene

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