Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

Gene ID: 6690, updated on 22-Jun-2014
Official Symbol
SPINK1provided by HGNC
Official Full Name
serine peptidase inhibitor, Kazal type 1provided by HGNC
Primary source
HGNC:11244
See related
Ensembl:ENSG00000164266; HPRD:01341; 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]
See SPINK1 in Epigenomics, MapViewer
Location:
5q32
Exon count :
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 JAKMIP2 antisense RNA 1 Neighboring gene janus kinase and microtubule interacting protein 2 Neighboring gene uncharacterized LOC101927012 Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene secretoglobin, family 3A, member 2

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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
 
regulation of acrosome reaction IEA
Inferred from Electronic Annotation
more info
 
regulation of store-operated calcium entry IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pancreatic secretory trypsin inhibitor
Names
pancreatic secretory trypsin inhibitor
tumor-associated trypsin inhibitor
serine protease inhibitor, Kazal type 1

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_008356.1 

    Range
    5001..12118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003122.4NP_003113.2  pancreatic secretory trypsin inhibitor precursor

    See proteins identical to NP_003113.2

    Status: REVIEWED

    Source sequence(s)
    BC025790, BU074107, CB159576
    Consensus CDS
    CCDS4286.1
    UniProtKB/Swiss-Prot
    P00995
    Related
    ENSP00000296695, OTTHUMP00000160145, ENST00000296695, OTTHUMT00000251940
    Conserved Domains (1) summary
    cd01327
    Location:3579
    Blast Score: 182
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

mRNA and Protein(s)

  1. XM_005268501.1XP_005268558.1  

    UniProtKB/Swiss-Prot
    P00995
    Conserved Domains (1) summary
    cd01327
    Location:3579
    Blast Score: 182
    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 ...

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    142351294..142358402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    146636518..146643635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...