HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRAPPC6A
trafficking protein particle complex subunit 6A
Chromosome 19 · 19q13.32
NCBI Gene: 79090Ensembl: ENSG00000007255.11HGNC: HGNC:23069UniProt: B7TZ90
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum to Golgi vesicle-mediated transporttrans-Golgi networkcis-Golgi networkfamilial hyperlipidemiaRespiratory insufficiencyretinitis pigmentosaGriscelli disease
✦AI Summary

TRAPPC6A is a subunit of the transport protein particle (TRAPP) complex, a highly conserved machinery essential for vesicular trafficking and membrane organization. 1 The protein functions in endoplasmic reticulum-to-Golgi transport and trans-Golgi network operations, where it interacts with other TRAPP components to regulate protein trafficking pathways. 2 TRAPPC6A can functionally replace its yeast ortholog, confirming evolutionary conservation of its trafficking role. 3 Molecularly, TRAPPC6A participates in TRAPP complex assembly and shows distinct binding preferences: it co-precipitates with both TRAPP II and TRAPP III complexes, contrasting with TRAPPC6B which preferentially associates with TRAPP II. 1 The protein is regulated post-translationally through proteasome-dependent mechanisms. 3 An N-terminal internal deletion isoform (TRAPPC6AΔ) derived from alternative splicing forms extracellular plaques in the brain and interacts with neurodegeneration-related proteins like WWOX, undergoing phosphorylation-dependent polymerization when WWOX is downregulated. 4 Clinically, mutations in TRAPPC6A associate with neurodevelopmental syndromes featuring intellectual disability, speech delay, and dysmorphic features including polydactyly. 3 TRAPPC6A upregulation occurs in white matter lesion development during cerebral hypoperfusion. 5 Additionally, TRAPPC6AΔ positively regulates influenza A virus replication by modulating M2 protein trafficking. 6

Sources cited
1
TRAPPC6A interacts with TRAPP binding partners, co-precipitates with both TRAPP II and TRAPP III complexes (in contrast to TRAPPC6B preference for TRAPP II), and levels are elevated when TRAPPC6B is mutated
PMID: 37713627
2
TRAPPC6A successfully replaces its yeast ortholog in humanized yeast models, demonstrating functional conservation across species
PMID: 39273027
3
Homozygous missense mutation in TRAPPC6A causes neurodevelopmental syndrome with intellectual disability, speech delay, facial dysmorphism and polydactyly; wild-type TRAPPC6A is unstable but stabilized by proteasome inhibitors
PMID: 29391579
4
TRAPPC6AΔ (N-terminal deletion isoform) forms extracellular plaques in brain cortex and hippocampus, undergoes Ser35 phosphorylation-dependent polymerization when WWOX is downregulated, and promotes caspase activation and neurodegeneration
PMID: 25650666
5
TRAPPC6A mRNA is upregulated in the corpus callosum after day 7 in chronic cerebral hypoperfusion, detected in neurons by immunohistochemistry
PMID: 27458816
6
TRAPPC6AΔ interacts with influenza A virus M2 protein at leucine 96, slows M2 trafficking to apical plasma membrane, and positively modulates viral replication in vitro and virulence in mice
PMID: 27795429
7
TRAPPC6A (referenced as TRAPPC6a) interacts with TRAPPC2L core TRAPP subunit; disruption of this interaction affects TRAPP complex assembly and membrane trafficking
PMID: 32843486
Disease Associationsⓘ20
familial hyperlipidemiaOpen Targets
0.10Weak
Respiratory insufficiencyOpen Targets
0.10Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
skin sensitivity to sunOpen Targets
0.06Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
oculocutaneous albinism type 4Open Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Abnormality of skin pigmentationOpen Targets
0.05Suggestive
retinitis pigmentosa 87 with choroidal involvementOpen Targets
0.05Suggestive
oculocutaneous albinism type 1BOpen Targets
0.05Suggestive
choroideremiaOpen Targets
0.05Suggestive
Leber congenital amaurosis 13Open Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
oculocutaneous albinism type 2Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRAPPC9Protein interaction100%TRAPPC13Protein interaction93%TRAPPC5Protein interaction92%RAB1AProtein interaction92%TRAPPC3Protein interaction87%RAB1BProtein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
99%
Ovary
42%
Brain
40%
Lung
34%
Heart
32%
Gene Interaction Network
Click a node to explore
TRAPPC6ATRAPPC9TRAPPC13TRAPPC5RAB1ATRAPPC3RAB1B
PROTEIN STRUCTURE
Preparing viewer…
PDB2C0J · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.43 [1.03–1.88]
RankingsWhere TRAPPC6A stands among ~20K protein-coding genes
  • #12,470of 20,598
    Most Researched28
  • #17,067of 17,882
    Most Constrained (LOEUF)1.88
Genes detectedTRAPPC6A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
PMID: 37713627
Brain · 2024
1.00
2
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a
PMID: 39273027
Cells · 2024
0.90
3
Induction of Genes Expressed in Endothelial Cells of the Corpus Callosum in the Chronic Cerebral Hypoperfusion Rat Model.
PMID: 27458816
Pathobiology · 2017
0.80
4
WWOX and Its Binding Proteins in Neurodegeneration.
PMID: 34359949
Cells · 2021
0.70
5
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
PMID: 29391579
Sci Rep · 2018
0.60