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

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: mouse all
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Genomic context

Location:: 5q32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (147824582..147839196, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (148360276..148374975, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (147204145..147218759, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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?
[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].
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.
The roles of mutated SPINK1 gene in prostate cancer cells.
Title: The roles of mutated SPINK1 gene in prostate cancer cells.
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.
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.
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.
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.
Structural and Biophysical Insights into SPINK1 Bound to Human Cationic Trypsin.
Title: Structural and Biophysical Insights into SPINK1 Bound to Human Cationic Trypsin.

Submit: New GeneRIF Correction See all GeneRIFs (213)

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 EBI GWAS CatalogPubMed

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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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 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 more info	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

NG_008356.2 RefSeqGene

Range

12561..19650

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

147824582..147839196 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

P00995
XM_047417626.1 → XP_047273582.1 serine protease inhibitor Kazal-type 1 isoform X1

UniProtKB/Swiss-Prot

P00995

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

148360276..148374975 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

P00995
XM_054353309.1 → XP_054209284.1 serine protease inhibitor Kazal-type 1 isoform X1

UniProtKB/Swiss-Prot

P00995
XM_054353311.1 → XP_054209286.1 serine protease inhibitor Kazal-type 1 isoform X1

UniProtKB/Swiss-Prot

P00995