TRAPPC6A Gene
Trafficking Protein Particle Complex Subunit 6A
Gene Information Card
| Symbol | TRAPPC6A |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 6A |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 79090 ncbi.nlm.nih.gov/gene/79090 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 610396 |
| HGNC ID | 19952 |
| Aliases | TRS33, TRAPPC6, TPC6A |
Description
TRAPPC6A encodes a subunit of the trafficking protein particle (TRAPP) complex, which is involved in vesicle tethering and transport between the endoplasmic reticulum and Golgi apparatus. The protein is part of the TRAPP I complex and plays a role in autophagy and membrane trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, short stature, and impaired intellectual development | Defective vesicle trafficking due to TRAPPC6A mutations | PMID: 28777931 |
| Spastic paraplegia | Disruption of TRAPP complex function | ClinVar: RCV000626258 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Low |
| Lung | 7.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| SH-SY5Y | 14.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.260G>A (p.Arg87Gln) | Missense | Rare | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start loss variants reduce protein stability or abolish translation, impairing TRAPP complex assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • retrograde vesicle-mediated transport (GO:0006890) |
| • vesicle-mediated transport (GO:0016192) | • endosomal vesicle fusion (GO:0034058) |
Pathways
• Vesicle-mediated transport (R-HSA-5653656)
• Membrane Trafficking (R-HSA-199991)
Protein Summary
TRAPPC6A is a 219-amino acid protein that localizes to the Golgi apparatus and is essential for the tethering of transport vesicles. It interacts with other TRAPP subunits to form the TRAPP I complex, which mediates the docking of COPII vesicles at the cis-Golgi.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC6A Knockout HEK293 Cell Line | EDJ-KQ15905 | Human | 79090 | Details Get a Quote |
| TRAPPC6A Knockout A-549 Cell Line | EDJ-KQ47921 | Human | 79090 | Details Get a Quote |
| TRAPPC6A Knockout HCT 116 Cell Line | EDJ-KQ49130 | Human | 79090 | Details Get a Quote |
| TRAPPC6A Knockout HeLa Cell Line | EDJ-KQ49131 | Human | 79090 | Details Get a Quote |
