VPS51
VPS51 subunit of GARP complex
Gene Information Card
| Symbol | VPS51 |
|---|---|
| Full Name | VPS51 subunit of GARP complex |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 100507436 ncbi.nlm.nih.gov/gene/100507436 |
| Ensembl ID | ENSG00000205730 |
| UniProt ID | Q9NVE7 |
| OMIM ID | 615544 |
| HGNC ID | 28995 |
| Aliases | C11orf2, VPS51, VPS51A, GARP complex subunit VPS51 |
Description
VPS51 encodes a subunit of the GARP (Golgi-associated retrograde protein) complex, which is essential for tethering and fusion of endosome-derived vesicles to the trans-Golgi network. The protein is involved in retrograde transport from endosomes to the Golgi apparatus. Mutations in VPS51 have been associated with a neurodegenerative disorder characterized by progressive spastic paraplegia and cerebellar ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia 84, autosomal recessive | Loss of function of GARP complex disrupts retrograde trafficking, leading to neuronal degeneration | ClinVar, OMIM |
| Cerebellar ataxia, early-onset, with spasticity | Impaired endosome-to-Golgi transport affects neuronal survival | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Cerebellum | 12.5 | Medium |
| Testis | 8.9 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.5 | Neuroblastoma cell line |
| HeLa | 7.2 | Cervical carcinoma |
| HEK293 | 6.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248*) | nonsense | Rare | Premature stop, loss of function |
| c.1045_1046delAG (p.Ser349*) | frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to GARP complex instability and impaired retrograde trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005794 (GO:0005794) | • GO:0006886 (GO:0006886) |
| • GO:0015031 (GO:0015031) | • GO:0034058 (GO:0034058) |
| • GO:0042147 (GO:0042147) |
Pathways
• Endosome-to-Golgi retrograde transport
• GARP complex mediated tethering
Protein Summary
VPS51 is a 777-amino acid protein that forms part of the GARP tethering complex. It localizes to the trans-Golgi network and mediates the fusion of endosome-derived vesicles. The protein contains a VPS51 domain and interacts with other GARP subunits (VPS52, VPS53, VPS54). Loss of VPS51 function disrupts retrograde trafficking and is linked to neurodegenerative disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS51 Knockout HEK293 Cell Line | EDJ-KQ50167 | Human | 738 | Details Get a Quote |
| VPS51 Knockout HeLa Cell Line | EDJ-KQ52754 | Human | 738 | Details Get a Quote |
| VPS51 Knockout A-549 Cell Line | EDJ-KQ61224 | Human | 738 | Details Get a Quote |
| VPS51 Knockout HCT 116 Cell Line | EDJ-KQ69721 | Human | 738 | Details Get a Quote |
