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Aliases for SPINK1 Gene

Aliases for SPINK1 Gene

  • Serine Peptidase Inhibitor, Kazal Type 1 2 3 5
  • Serine Protease Inhibitor, Kazal Type 1 2 3
  • Pancreatic Secretory Trypsin Inhibitor 3 4
  • Tumor-Associated Trypsin Inhibitor 3 4
  • PSTI 3 4
  • TATI 3 4
  • Spink3 3
  • PCTT 3
  • TCP 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 peptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK1 Gene

  • Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity).

  • In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production.

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

Enhancers for SPINK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPINK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPINK1 Gene

Chromosome:
5
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

Genes around SPINK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Serine protease inhibitor Kazal-type 1
    Protein Accession:
    P00995

    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:

Antibody Products

No data available for DME Specific Peptides for SPINK1 Gene

Domains & Families for SPINK1 Gene

Gene Families for SPINK1 Gene

Protein Domains for SPINK1 Gene

Graphical View of Domain Structure for InterPro Entry

P00995

UniProtKB/Swiss-Prot:

ISK1_HUMAN :
  • Contains 1 Kazal-like domain.
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:
Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity).
UniProtKB/Swiss-Prot Function:
In the male reproductive tract, binds to sperm heads where it modulates sperm capacitance by inhibiting calcium uptake and nitrogen oxide (NO) production.

Gene Ontology (GO) - Molecular Function for SPINK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 14507909
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK1: view
genes like me logo Genes that share phenotypes with SPINK1: view

Human Phenotype Ontology for SPINK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPINK1 Gene

MGI Knock Outs for SPINK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPINK1

CRISPR Products

miRNA for SPINK1 Gene

miRTarBase miRNAs that target SPINK1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
mitochondrion 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SPINK1 Gene

Pathways & Interactions 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:0010751 negative regulation of nitric oxide mediated signal transduction IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation IEA --
GO:0090281 negative regulation of calcium ion import IEA --
GO:1900004 negative regulation of serine-type endopeptidase activity IEA,IBA --
genes like me logo Genes that share ontologies with SPINK1: view

No data available for SIGNOR curated interactions for SPINK1 Gene

Drugs & Compounds for SPINK1 Gene

(2) Drugs for SPINK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SPINK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPINK1: view

Transcripts for SPINK1 Gene

mRNA/cDNA for SPINK1 Gene

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 (x47.1).

Protein differential expression in normal tissues from HIPED for SPINK1 Gene

This gene is overexpressed in Urine (45.2) and Stomach (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SPINK1: view

Protein tissue co-expression partners for SPINK1 Gene

Primer Products

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
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)
Spink1 16
Spink3 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPINK1 35
  • 99.16 (n)
  • 98.73 (a)
SPINK1 36
  • 99 (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

(10) 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
VAR_011688 Pancreatitis, hereditary (PCTT)
rs17107315 Pancreatitis, hereditary (PCTT), Tropical calcific pancreatitis (TCP) 147,828,115(-) TTACA(A/G)TGAAC reference, missense
rs111966833 - 147,828,053(+) ATTGG(A/C/G)ATAAG reference, missense
rs35877720 Pancreatitis, hereditary (PCTT) 147,831,542(-) GCCTT(C/G)GCCCT reference, missense
rs35523678 - 147,824,701(-) GAAAC(A/G)CCAGA reference, missense

Variation tolerance for SPINK1 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.92; 59.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPINK1 Gene

HapMap Linkage Disequilibrium report
SPINK1
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database

(18) MalaCards diseases for SPINK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pancreatitis, hereditary
  • pancreatitis, chronic
tropical calcific pancreatitis
  • fibrocalculous pancreatic diabetes
spink1-related hereditary pancreatitis
  • spink1-related calcific pancreatitis
pancreatitis
alcoholic pancreatitis
  • pancreatitis alcoholic
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SPINK1

Genetic Association Database (GAD)
SPINK1
Human Genome Epidemiology (HuGE) Navigator
SPINK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPINK1
genes like me logo Genes that share disorders with SPINK1: view

No data available for Genatlas for SPINK1 Gene

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 67
  2. Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis. (PMID: 19844201) Cavestro G.M. … Di Mario F. (Am. J. Gastroenterol. 2010) 3 23
  3. SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. (PMID: 19888199) Aoun E. … Whitcomb D.C. (Am. J. Gastroenterol. 2010) 3 23
  4. Association of SPINK1 expression and TMPRSS2:ERG fusion with prognosis in endocrine-treated prostate cancer. (PMID: 20442300) Leinonen K.A. … Visakorpi T. (Clin. Cancer Res. 2010) 3 23
  5. Analysis of PRSS1 and SPINK1 mutations in Korean patients with idiopathic and familial pancreatitis. (PMID: 18852684) Oh H.C. … Kim G.H. (Pancreas 2009) 3 23

Products for SPINK1 Gene

Sources for SPINK1 Gene

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