TRAPPC3
Trafficking Protein Particle Complex Subunit 3
Gene Information Card
| Symbol | TRAPPC3 |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 27095 ncbi.nlm.nih.gov/gene/27095 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | O43617 |
| OMIM ID | 610967 |
| HGNC ID | 19948 |
| Aliases | BET3, MUM-2, TRS85 |
Description
TRAPPC3 encodes a subunit of the trafficking protein particle (TRAPP) complex, which is involved in vesicular transport from the endoplasmic reticulum to the Golgi apparatus and in intra-Golgi transport. The protein is a component of the TRAPP I and TRAPP II complexes and is essential for membrane tethering and fusion events.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 20 (SCAR20) | Loss-of-function mutations in TRAPPC3 impair vesicle trafficking in neurons, leading to cerebellar degeneration. | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic variants disrupt TRAPP complex function, affecting neuronal development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Cerebellum | 18.5 | Medium |
| Testis | 12.8 | Medium |
| Heart | 10.1 | Low |
| Liver | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| SH-SY5Y | 16.0 | High expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259C>T (p.Arg87Trp) | Missense | Rare | Loss of protein stability and TRAPP complex assembly |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants lead to reduced or absent protein function, impairing vesicle 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)
| • vesicle-mediated transport | • ER to Golgi vesicle-mediated transport |
| • Golgi vesicle transport | • protein transport |
| • membrane tethering |
Pathways
• TRAPP complex pathway
• ER-to-Golgi transport
• Intra-Golgi transport
Protein Summary
TRAPPC3 (BET3) is a 22 kDa protein that forms part of the TRAPP I and TRAPP II complexes. It contains a longin domain and is involved in tethering vesicles to the Golgi membrane. The protein is highly conserved and expressed in multiple tissues, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC3L Knockout HEK293 Cell Line | EDJ-KQ15904 | Human | 100128327 | Details Get a Quote |
| TRAPPC3L Knockout HeLa Cell Line | EDJ-KQ60788 | Human | 100128327 | Details Get a Quote |
| TRAPPC3L Knockout A-549 Cell Line | EDJ-KQ69256 | Human | 100128327 | Details Get a Quote |
| TRAPPC3L Knockout HCT 116 Cell Line | EDJ-KQ77614 | Human | 100128327 | Details Get a Quote |
