VPS13C: Vacuolar Protein Sorting 13 Homolog C
A key player in mitochondrial homeostasis and Parkinson's disease pathogenesis
Gene Information Card
| Symbol | VPS13C |
|---|---|
| Full Name | Vacuolar Protein Sorting 13 Homolog C |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 64796 ncbi.nlm.nih.gov/gene/64796 |
| Ensembl ID | ENSG00000129003 |
| UniProt ID | Q8NBS9 |
| OMIM ID | 608879 |
| HGNC ID | 14301 |
| Aliases | KIAA1054, FLJ10829 |
Description
VPS13C encodes a large protein involved in intracellular lipid transport and organelle membrane contact sites. It plays a critical role in mitochondrial homeostasis, autophagy, and lysosomal function. Mutations in VPS13C are associated with autosomal recessive early-onset Parkinson's disease and have been implicated in other neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease 23 (autosomal recessive early-onset) | Loss-of-function mutations impair mitochondrial clearance and lipid homeostasis, leading to dopaminergic neuron degeneration. | ClinVar, OMIM |
| Parkinson's disease (sporadic) | Common variants increase risk, possibly through altered VPS13C expression and mitochondrial dysfunction. | ClinVar, OMIM |
| Neurodegeneration with brain iron accumulation (NBIA) - possible | Disrupted lipid transport may contribute to iron accumulation in brain regions. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - cortex | 12.5 | Medium |
| Brain - cerebellum | 10.2 | Medium |
| Heart | 8.1 | Low |
| Liver | 6.3 | Low |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.2 | High expression; used in Parkinson's disease models |
| HEK293 (embryonic kidney) | 9.5 | Moderate expression; common for overexpression studies |
| HeLa (cervical carcinoma) | 7.8 | Low expression; used for mitochondrial assays |
| HepG2 (hepatocellular carcinoma) | 5.4 | Low expression; liver model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3344C>T (p.Arg1115Ter) | Nonsense | Rare | Loss-of-function; associated with early-onset Parkinson's disease |
| c.6283C>T (p.Arg2095Ter) | Nonsense | Rare | Loss-of-function; leads to truncated protein |
| c.1057C>T (p.Arg353Ter) | Nonsense | Rare | Loss-of-function; reported in Parkinson's disease |
| c.6940C>T (p.Arg2314Cys) | Missense | Very rare | Potential damaging; affects protein function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to impaired mitochondrial clearance and autophagy.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not established; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • autophagy |
| • mitochondrial organization | • protein homodimerization activity |
| • Golgi apparatus | • endoplasmic reticulum |
| • mitochondrion | • lysosome |
Pathways
• Autophagy - other
• Mitophagy
• Lipid metabolism
• Parkinson's disease pathway
Protein Summary
The VPS13C protein is a large, multi-domain protein localized to contact sites between mitochondria and the endoplasmic reticulum. It facilitates lipid transfer between organelles, crucial for mitochondrial dynamics and function. It also interacts with the autophagy machinery to mediate clearance of damaged mitochondria. Loss of VPS13C leads to mitochondrial fragmentation, impaired respiration, and increased oxidative stress, contributing to neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS13C Knockout HEK293 Cell Line | EDJ-KQ16106 | Human | 54832 | Details Get a Quote |
| VPS13C Knockout A-549 Cell Line | EDJ-KQ47263 | Human | 54832 | Details Get a Quote |
| VPS13C Knockout HCT 116 Cell Line | EDJ-KQ47264 | Human | 54832 | Details Get a Quote |
| VPS13C Knockout HeLa Cell Line | EDJ-KQ47265 | Human | 54832 | Details Get a Quote |
