TRAPPC9
Trafficking Protein Particle Complex Subunit 9
Gene Information Card
| Symbol | TRAPPC9 |
|---|---|
| Full Name | Trafficking Protein Particle Complex Subunit 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 83696 ncbi.nlm.nih.gov/gene/83696 |
| Ensembl ID | ENSG00000167632 |
| UniProt ID | Q96Q05 |
| OMIM ID | 611966 |
| HGNC ID | 24280 |
| Aliases | NIBP, KIAA1882, TRS85 |
Description
TRAPPC9 encodes a subunit of the trafficking protein particle (TRAPP) complex, which is involved in vesicle tethering and transport from the endoplasmic reticulum to the Golgi apparatus. The protein also functions as an activator of NF-kappaB signaling. Mutations in TRAPPC9 cause autosomal recessive intellectual disability with microcephaly and post-natal growth retardation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive intellectual disability 70 (MRT70) | Loss-of-function mutations impair TRAPP complex function and NF-kappaB signaling, leading to neuronal defects | OMIM #618272; multiple case reports |
| Microcephaly, post-natal growth retardation | Disrupted vesicle trafficking affects brain development and growth | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 10.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| SH-SY5Y | 18.7 | High expression |
| HeLa | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1309C>T (p.Arg437*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1660C>T (p.Arg554*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.2026C>T (p.Arg676*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein; associated with intellectual disability and microcephaly
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 |
| • NF-kappaB activation | • protein binding |
Pathways
• TRAPP complex pathway
• NF-kappaB signaling pathway
Protein Summary
TRAPPC9 is a 1249-amino acid protein that localizes to the Golgi apparatus and functions as a subunit of the TRAPP complex. It also interacts with IKK-beta to activate NF-kappaB. Loss of function leads to impaired vesicle trafficking and reduced NF-kappaB signaling, particularly affecting neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRAPPC9 Knockout HEK293 Cell Line | EDJ-KQ9890 | Human | 83696 | Details Get a Quote |
| TRAPPC9 Knockout A-549 Cell Line | EDJ-KQ35568 | Human | 83696 | Details Get a Quote |
| TRAPPC9 Knockout HCT 116 Cell Line | EDJ-KQ36770 | Human | 83696 | Details Get a Quote |
| TRAPPC9 Knockout HeLa Cell Line | EDJ-KQ36771 | Human | 83696 | Details Get a Quote |
