VPS9D1 Gene - VPS9 Domain Containing 1
Comprehensive genomic and functional analysis of VPS9D1
Gene Information Card
| Symbol | VPS9D1 |
|---|---|
| Full Name | VPS9 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 221468 ncbi.nlm.nih.gov/gene/221468 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9H9C1 |
| OMIM ID | 617507 |
| HGNC ID | 25695 |
| Aliases | FLJ10706, MGC13170 |
Description
VPS9D1 (VPS9 Domain Containing 1) is a protein-coding gene located on chromosome 16q24.3. The encoded protein contains a VPS9 domain, which is typically involved in guanine nucleotide exchange factor (GEF) activity for Rab GTPases, particularly Rab5. VPS9D1 may play a role in endosomal trafficking and membrane dynamics. Limited functional characterization is available, but its domain architecture suggests involvement in vesicle-mediated transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence from OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 7.2 | Low |
| Brain | 4.1 | Low |
| Lung | 3.5 | Low |
| Liver | 2.8 | Low |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Low expression |
| HeLa | 3.8 | Low expression |
| K562 | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • guanyl-nucleotide exchange factor activity (GO:0005085) | • protein binding (GO:0005515) |
| • endosome (GO:0005768) | • endosomal transport (GO:0016197) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
The VPS9D1 protein (UniProt Q9H9C1) contains a VPS9 domain, which is characteristic of guanine nucleotide exchange factors (GEFs) for Rab5 GTPases. This domain facilitates the exchange of GDP for GTP, activating Rab5 and regulating early endosome fusion and trafficking. The protein is predicted to be cytoplasmic and associated with endosomal membranes. Its precise cellular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS9D1 Knockout HEK293 Cell Line | EDJ-KQ6654 | Human | 9605 | Details Get a Quote |
| VPS9D1 Knockout A-549 Cell Line | EDJ-KQ30946 | Human | 9605 | Details Get a Quote |
| VPS9D1 Knockout HCT 116 Cell Line | EDJ-KQ30947 | Human | 9605 | Details Get a Quote |
| VPS9D1 Knockout HeLa Cell Line | EDJ-KQ30948 | Human | 9605 | Details Get a Quote |
