VNN1 Gene: Vanin 1
Pantetheinase, Oxidative Stress, and Inflammatory Regulation
Gene Information Card
| Symbol | VNN1 |
|---|---|
| Full Name | Vanin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 8876 ncbi.nlm.nih.gov/gene/8876 |
| Ensembl ID | ENSG00000112299 |
| UniProt ID | O95497 |
| OMIM ID | 606592 |
| HGNC ID | 12657 |
| Aliases | Tiff66, pantetheinase |
Description
VNN1 encodes vanin 1, a glycosylphosphatidylinositol (GPI)-anchored pantetheinase that hydrolyzes pantetheine to pantothenic acid (vitamin B5) and cysteamine. It is involved in oxidative stress response, inflammatory regulation, and cellular metabolism. The gene is located on chromosome 6q23.2 and is expressed in various tissues, particularly the liver, kidney, and intestine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | VNN1 regulates oxidative stress and immune cell recruitment; altered expression linked to intestinal inflammation. | NCBI Gene, OMIM |
| Type 2 diabetes | VNN1 variants associated with insulin resistance and oxidative stress markers. | NCBI Gene, ClinVar |
| Cancer (colorectal, liver) | VNN1 overexpression may promote tumor growth via cysteamine-mediated redox modulation. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Small intestine | 8.5 | Medium |
| Colon | 6.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 10.5 | Colorectal adenocarcinoma cell line |
| HEK 293 | 3.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042G>A (p.Gly348Arg) | Missense | 0.001 | Reduced pantetheinase activity |
| c.763C>T (p.Arg255Trp) | Missense | 0.0005 | Unknown functional effect |
| c.1234_1235insA | Frameshift | <0.0001 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of pantetheinase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • pantetheine hydrolase activity | • pantothenate metabolic process |
| • response to oxidative stress | • inflammatory response |
| • extracellular region | • GPI-anchored membrane |
Pathways
• Pantothenate and CoA biosynthesis
• Vitamin B5 metabolism
Protein Summary
Vanin 1 is a 513-amino acid GPI-anchored ectoenzyme that cleaves pantetheine into pantothenic acid and cysteamine. Cysteamine acts as a potent antioxidant and modulator of glutathione levels. The protein is expressed on the cell surface and in extracellular vesicles, playing a key role in redox homeostasis and immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VNN1 Knockout HEK293 Cell Line | EDJ-KQ2586 | Human | 8876 | Details Get a Quote |
| VNN1 Knockout HeLa Cell Line | EDJ-KQ55027 | Human | 8876 | Details Get a Quote |
| VNN1 Knockout A-549 Cell Line | EDJ-KQ63513 | Human | 8876 | Details Get a Quote |
| VNN1 Knockout HCT 116 Cell Line | EDJ-KQ71979 | Human | 8876 | Details Get a Quote |
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