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

    Gene ID: 6690, updated on 27-Nov-2017
    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; Vega:OTTHUMG00000129730
    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
    Location:
    5q32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (147824580..147839231, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147204143..147218794, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene janus kinase and microtubule interacting protein 2 Neighboring gene uncharacterized LOC101927012 Neighboring gene uncharacterized LOC105378218 Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene chromosome 5 open reading frame 46 Neighboring gene secretoglobin family 3A member 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hereditary pancreatitis Compare labs
    Tropical calcific pancreatitis
    MedGen: C1842402 OMIM: 608189 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-11-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2011-11-17)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    negative regulation of calcium ion import IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of nitric oxide mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of acrosome reaction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of store-operated calcium entry IEA
    Inferred from Electronic Annotation
    more info
     
    sperm capacitation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    serine protease inhibitor Kazal-type 1
    Names
    pancreatic secretory trypsin inhibitor
    serine protease inhibitor, Kazal type 1
    tumor-associated trypsin inhibitor

    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
      5001..19652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC011352
      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_003122.4NP_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 and 2 both encode the same protein.
      Source sequence(s)
      BC025790, BU074107, CB159576
      Consensus CDS
      CCDS4286.1
      UniProtKB/Swiss-Prot
      P00995
      Related
      ENSP00000296695.5, OTTHUMP00000160145, ENST00000296695.9, OTTHUMT00000251940
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      147824580..147839231 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      146636518..146651169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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