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

Gene ID: 6690, updated on 5-Aug-2018

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; 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

Genomic context

See SPINK1 in Genome Data Viewer
Location:
5q32
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
 
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
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)

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
    Consensus CDS
    CCDS4286.1
    Related
    ENSP00000296695.5, ENST00000296695.9
    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
    OTTHUMP00000160145, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

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