SPINK13: Serine Peptidase Inhibitor, Kazal Type 13
A member of the SPINK family of serine protease inhibitors, potentially involved in tissue protection and cancer biology.
Gene Information Card
| Symbol | SPINK13 |
|---|---|
| Full Name | Serine Peptidase Inhibitor, Kazal Type 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 153218 ncbi.nlm.nih.gov/gene/153218 |
| Ensembl ID | ENSG00000164305 |
| UniProt ID | Q5VY30 |
| OMIM ID | 609142 |
| HGNC ID | 20389 |
| Aliases | SPINK5L3, LEKTI-3, DKFZp686K24186 |
Description
SPINK13 (Serine Peptidase Inhibitor, Kazal Type 13) is a protein-coding gene located on chromosome 5q32. It encodes a member of the SPINK family of serine protease inhibitors, characterized by one or more Kazal-type domains. The protein is predicted to function as a protease inhibitor, potentially regulating proteolytic cascades in tissues such as the skin and pancreas. SPINK13 is also known as SPINK5L3 and LEKTI-3, and is closely related to SPINK5 (LEKTI), which is associated with Netherton syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Netherton syndrome (related via SPINK5 homology) | SPINK13 is a paralog of SPINK5; mutations in SPINK5 cause Netherton syndrome, but direct SPINK13 mutations are not yet clinically established. | Homology; NCBI Gene |
| Pancreatic cancer (potential) | SPINK13 expression may be altered in pancreatic ductal adenocarcinoma, similar to other SPINK genes. | COSMIC; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 0.8 | Low |
| Skin | 0.5 | Low |
| Prostate | 0.3 | Low |
| Testis | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 0.6 | Low expression |
| HaCaT (keratinocyte) | 0.4 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential start codon loss; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for SPINK13.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity (GO:0004867) | • extracellular region (GO:0005576) |
| • negative regulation of endopeptidase activity (GO:0010951) |
Pathways
• Serine protease inhibitor pathway (KEGG: hsa04610 - Complement and coagulation cascades
• indirect)
Protein Summary
The SPINK13 protein (UniProt Q5VY30) is a 106-amino acid serine protease inhibitor containing a single Kazal-type domain. It is predicted to be secreted and may inhibit trypsin-like proteases. Its physiological role remains poorly characterized, but it is hypothesized to protect tissues from excessive proteolysis, particularly in the skin and pancreas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPINK13 Knockout HEK293 Cell Line | EDJ-KQ11496 | Human | 153218 | Details Get a Quote |
| SPINK13 Knockout HeLa Cell Line | EDJ-KQ39818 | Human | 153218 | Details Get a Quote |
| SPINK13 Knockout A-549 Cell Line | EDJ-KQ67204 | Human | 153218 | Details Get a Quote |
| SPINK13 Knockout HCT 116 Cell Line | EDJ-KQ75609 | Human | 153218 | Details Get a Quote |
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