TRAPPC10
Trafficking Protein Particle Complex Subunit 10
Gene Information Card
| Symbol | TRAPPC10 |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 7109 ncbi.nlm.nih.gov/gene/7109 |
| Ensembl ID | ENSG00000160213 |
| UniProt ID | Q9Y6A8 |
| OMIM ID | 602103 |
| HGNC ID | 19967 |
| Aliases | EHOC-1, TMEM1, TRS130, GT334 |
Description
TRAPPC10 encodes a subunit of the trafficking protein particle (TRAPP) complex, which functions in vesicle tethering and transport from the endoplasmic reticulum to the Golgi apparatus. The protein is also known as EHOC-1 (Erythroid Hydroxyurea Overexpression Clone 1) and TMEM1. Mutations in TRAPPC10 are associated with autosomal recessive intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive intellectual disability | Loss-of-function mutations impair vesicle trafficking, affecting neuronal development | PMID: 28413018 |
| Microcephaly | Disrupted TRAPP complex function leads to reduced brain size | PMID: 28413018 |
| Spastic paraplegia | Defective ER-to-Golgi transport affects axonal maintenance | PMID: 28413018 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 7.1 | Low |
| Liver | 5.9 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Medium expression |
| K562 | 6.7 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Loss of function |
| c.2023G>A (p.Gly675Arg) | Missense | Rare | Likely damaging |
| c.3040C>T (p.Arg1014Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • vesicle tethering | • ER to Golgi vesicle-mediated transport |
| • Golgi organization | • protein transport |
Pathways
• TRAPP complex pathway
• ER-to-Golgi transport
• Vesicle-mediated transport
Protein Summary
TRAPPC10 is a 140 kDa protein that localizes to the Golgi apparatus and is essential for the tethering of COPII vesicles to the Golgi membrane. It interacts with other TRAPP subunits to form the TRAPPII complex, which regulates intra-Golgi transport and endosome-to-Golgi trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC10 Knockout HEK293 Cell Line | EDJ-KQ5950 | Human | 7109 | Details Get a Quote |
| TRAPPC10 Knockout HeLa Cell Line | EDJ-KQ28232 | Human | 7109 | Details Get a Quote |
| TRAPPC10 Knockout A-549 Cell Line | EDJ-KQ29507 | Human | 7109 | Details Get a Quote |
| TRAPPC10 Knockout HCT 116 Cell Line | EDJ-KQ29508 | Human | 7109 | Details Get a Quote |
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