VPS35L
VPS35 Endosomal Protein Sorting Factor Like
Gene Information Card
| Symbol | VPS35L |
|---|---|
| Full Name | VPS35 endosomal protein sorting factor like |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 57020 ncbi.nlm.nih.gov/gene/57020 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9H9H4 |
| OMIM ID | 618980 |
| HGNC ID | 29141 |
| Aliases | C16orf62, HSPC294, RTTN2 |
Description
VPS35L encodes a component of the retriever complex, which is involved in endosomal protein sorting and recycling of cell surface receptors. The retriever complex, together with the CCC complex, regulates trafficking of cargo such as integrins and signaling receptors. Mutations in VPS35L are associated with neurodevelopmental disorders and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ritscher-Schinzel syndrome 3 (RTSC3) | Loss-of-function mutations impair retriever complex assembly, disrupting endosomal trafficking and ciliary function | OMIM #618980 |
| Neurodevelopmental disorder with microcephaly and seizures | Disrupted endosomal recycling affects neuronal signaling and cortical development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 7.1 | Low |
| Liver | 5.2 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| SH-SY5Y | 14.1 | High expression |
| HepG2 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256C>T (p.Arg86*) | Nonsense | Rare | Loss of function; associated with RTSC3 |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired retriever complex assembly |
| c.1687_1688del (p.Leu563Valfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of retriever complex function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • protein localization to endosome |
| • retrograde transport | • endosome to Golgi |
| • protein-containing complex assembly |
Pathways
• Retriever complex pathway
• Endosomal recycling
• Cargo trafficking to cilia
Protein Summary
VPS35L is a 796-amino acid protein that forms part of the retriever complex, which is essential for endosomal cargo sorting and recycling. It interacts with VPS35 and VPS26C to mediate retrieval of transmembrane proteins from endosomes to the cell surface or Golgi. The protein is ubiquitously expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS35L Knockout HEK293 Cell Line | EDJ-KQ16108 | Human | 57020 | Details Get a Quote |
| VPS35L Knockout HeLa Cell Line | EDJ-KQ46044 | Human | 57020 | Details Get a Quote |
| VPS35L Knockout A-549 Cell Line | EDJ-KQ47272 | Human | 57020 | Details Get a Quote |
| VPS35L Knockout HCT 116 Cell Line | EDJ-KQ47273 | Human | 57020 | Details Get a Quote |
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