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SPINK1 serine peptidase inhibitor Kazal type 1 [ Homo sapiens (human) ]

Gene ID: 6690, updated on 14-Nov-2024

Summary

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Official Symbol
SPINK1provided by HGNC
Official Full Name
serine peptidase inhibitor Kazal type 1provided by HGNC
Primary source
HGNC:HGNC:11244
See related
Ensembl:ENSG00000164266 MIM:167790; AllianceGenome:HGNC:11244
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TCP; PCTT; PSTI; TATI; Spink3
Summary
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]
Expression
Biased expression in pancreas (RPKM 2401.2), stomach (RPKM 337.4) and 2 other tissues See more
Orthologs
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Genomic context

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See SPINK1 in Genome Data Viewer
Location:
5q32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (147824582..147839196, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148360276..148374975, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147204145..147218759, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:146940356-146941285 Neighboring gene JAKMIP2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:146946379-146947278 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:146947279-146948178 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:146948179-146949078 Neighboring gene janus kinase and microtubule interacting protein 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:147051411-147052610 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147101014-147101804 Neighboring gene uncharacterized LOC105378218 Neighboring gene uncharacterized LOC124901101 Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147244599-147245140 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147247772-147248437 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147248438-147249104 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147249105-147249771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147249772-147250438 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147253107-147253772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147253773-147254440 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147254441-147255106 Neighboring gene secretoglobin family 3A member 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. Aoun E, et al. Am J Gastroenterol, 2010 Feb. PMID 19888199
  2. Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis? Jøergensen MT, et al. Eur J Gastroenterol Hepatol, 2012 Mar. PMID 22228370
  3. Roles of serine protease inhibitor Kazal type 1 (SPINK1) in pancreatic diseases. Ohmuraya M, et al. Exp Anim, 2011. PMID 22041280
  4. High expression of serine protease inhibitor kazal type 1 predicts poor prognosis and promotes the progression and invasion of oral tongue squamous cell carcinoma. Wang S, et al. Arch Oral Biol, 2024 Aug. PMID 38781741
  5. Association of tumor-associated trypsin inhibitor (TATI) expression with molecular markers, pathologic features and clinical outcomes of urothelial carcinoma of the urinary bladder. Patschan O, et al. World J Urol, 2012 Dec. PMID 21739120

See all (261) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High expression of serine protease inhibitor kazal type 1 predicts poor prognosis and promotes the progression and invasion of oral tongue squamous cell carcinoma.
    Title: High expression of serine protease inhibitor kazal type 1 predicts poor prognosis and promotes the progression and invasion of oral tongue squamous cell carcinoma.
  2. SPINK1 contributes to proliferation and clonal formation of HT29 cells through Beclin1 associated enhanced autophagy.
    Title: SPINK1 contributes to proliferation and clonal formation of HT29 cells through Beclin1 associated enhanced autophagy.
  3. Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?
    Title: Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?
  4. [Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis].
    Title: [Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis].
  5. Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis.
    Title: Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis.
  6. The roles of mutated SPINK1 gene in prostate cancer cells.
    Title: The roles of mutated SPINK1 gene in prostate cancer cells.
  7. Identification and Exploration of Serine Peptidase Inhibitor Kazal Type I (SPINK1) as a Potential Biomarker Correlated with the Progression of Non-Small Cell Lung Cancer.
    Title: Identification and Exploration of Serine Peptidase Inhibitor Kazal Type I (SPINK1) as a Potential Biomarker Correlated with the Progression of Non-Small Cell Lung Cancer.
  8. Serine protease inhibitor Kazal type 1 (SPINK1) promotes proliferation, migration, invasion and radiation resistance in rectal cancer patients receiving concurrent chemoradiotherapy: a potential target for precision medicine.
    Title: Serine protease inhibitor Kazal type 1 (SPINK1) promotes proliferation, migration, invasion and radiation resistance in rectal cancer patients receiving concurrent chemoradiotherapy: a potential target for precision medicine.
  9. Serine Protease Inhibitor Kazal Type 1, A Potential Biomarker for the Early Detection, Targeting, and Prediction of Response to Immune Checkpoint Blockade Therapies in Hepatocellular Carcinoma.
    Title: Serine Protease Inhibitor Kazal Type 1, A Potential Biomarker for the Early Detection, Targeting, and Prediction of Response to Immune Checkpoint Blockade Therapies in Hepatocellular Carcinoma.
  10. Nuclear magnetic resonance spectroscopy reveals dysregulation of monounsaturated fatty acid metabolism upon SPINK1 attenuation in colorectal cancer.
    Title: Nuclear magnetic resonance spectroscopy reveals dysregulation of monounsaturated fatty acid metabolism upon SPINK1 attenuation in colorectal cancer.
Submit: New GeneRIF Correction See all GeneRIFs (214)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary pancreatitis
MedGen: C0238339 OMIM: 167800 GeneReviews: PRSS1-Related Hereditary Pancreatitis, Pancreatitis Overview
Compare labs
Tropical pancreatitis
MedGen: C1842402 OMIM: 608189 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-25)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-10-25)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular response to peptide hormone stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of calcium ion import IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of pancreatic juice secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of peptide hormone secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of acrosome reaction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of store-operated calcium entry IEA
Inferred from Electronic Annotation
more info
  
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nutrient levels IEA
Inferred from Electronic Annotation
more info
  
involved_in sperm capacitation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
serine protease inhibitor Kazal-type 1
Names
pancreatic secretory trypsin inhibitor
serine protease inhibitor, Kazal type 1
tumor-associated trypsin inhibitor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008356.2 RefSeqGene

    Range
    12561..19650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354966.2 → NP_001341895.1  serine protease inhibitor Kazal-type 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 3 all encode the same protein.
    Source sequence(s)
    AC011352
    Consensus CDS
    CCDS4286.1
    UniProtKB/Swiss-Prot
    P00995
    UniProtKB/TrEMBL
    D6RIU5
    Conserved Domains (1) summary
    cd01327
    Location:35 → 79
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...

  2. NM_001379610.1 → NP_001366539.1  serine protease inhibitor Kazal-type 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1, 2 and 3 all encode the same protein.
    Source sequence(s)
    AC011352
    Consensus CDS
    CCDS4286.1
    UniProtKB/Swiss-Prot
    P00995
    UniProtKB/TrEMBL
    D6RIU5
    Related
    ENSP00000296695.5, ENST00000296695.10
    Conserved Domains (1) summary
    cd01327
    Location:35 → 79
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...

  3. NM_003122.5 → NP_003113.2  serine protease inhibitor Kazal-type 1 precursor

    See identical proteins and their annotated locations for NP_003113.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
    Source sequence(s)
    BC025790, BU074107, CB159576
    Consensus CDS
    CCDS4286.1
    UniProtKB/Swiss-Prot
    P00995
    UniProtKB/TrEMBL
    D6RIU5
    Conserved Domains (1) summary
    cd01327
    Location:35 → 79
    KAZAL_PSTI; Kazal-type pancreatic secretory trypsin inhibitors (PSTI) and related proteins, including the second domain of the ovomucoid turkey inhibitor and the C-terminal domain of the esophagus cancer-related gene-2 protein (ECRG-2), are members of the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    147824582..147839196 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417625.1 → XP_047273581.1  serine protease inhibitor Kazal-type 1 isoform X1

    UniProtKB/Swiss-Prot
    P00995

  2. XM_047417626.1 → XP_047273582.1  serine protease inhibitor Kazal-type 1 isoform X1

    UniProtKB/Swiss-Prot
    P00995

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    148360276..148374975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353310.1 → XP_054209285.1  serine protease inhibitor Kazal-type 1 isoform X1

    UniProtKB/Swiss-Prot
    P00995

  2. XM_054353309.1 → XP_054209284.1  serine protease inhibitor Kazal-type 1 isoform X1

    UniProtKB/Swiss-Prot
    P00995

  3. XM_054353311.1 → XP_054209286.1  serine protease inhibitor Kazal-type 1 isoform X1

    UniProtKB/Swiss-Prot
    P00995
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00995.2 GenPept UniProtKB/Swiss-Prot:P00995

Gene LinkOut

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