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

    Gene ID: 6690, updated on 5-Aug-2022

    Summary

    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
    NEW
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    Genomic context

    See SPINK1 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (147824582..147839196, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148360276..148374894, complement)
    105.20220307 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 JAKMIP2 antisense RNA 1 Neighboring gene janus kinase and microtubule interacting protein 2 Neighboring gene uncharacterized LOC105378218 Neighboring gene uncharacterized LOC124901101 Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 332

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary pancreatitis 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 negative regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nitric oxide mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation 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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001354966.2NP_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
      Conserved Domains (1) summary
      cd01327
      Location:3579
      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_001379610.1NP_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
      UniProtKB/Swiss-Prot
      P00995
      Related
      ENSP00000296695.5, ENST00000296695.10
      Conserved Domains (1) summary
      cd01327
      Location:3579
      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_003122.5NP_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
      Conserved Domains (1) summary
      cd01327
      Location:3579
      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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047417625.1XP_047273581.1  serine protease inhibitor Kazal-type 1 isoform X1

      UniProtKB/Swiss-Prot
      P00995
    2. XM_047417626.1XP_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..148374894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)