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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TRAPPC1
trafficking protein particle complex subunit 1
Chromosome 17 · 17p13.1
NCBI Gene: 58485Ensembl: ENSG00000170043.13HGNC: HGNC:19894UniProt: Q9Y5R8
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingTRAPP complexendoplasmic reticulum to Golgi vesicle-mediated transportvesicle tetheringneurodegenerative diseaseTesticular regression syndromehypogonadotropic hypogonadism 11 with or without anosmiaSenior-Boichis syndrome
✦AI Summary

TRAPPC1 (trafficking protein particle complex subunit 1) is a core component of the TRAPP tether complex essential for vesicular transport from the endoplasmic reticulum (ER) to the Golgi apparatus 1. The protein functions as part of a multisubunit complex regulating protein trafficking and acts as a guanine nucleotide exchange factor for Rab GTPases 2. Mechanistically, TRAPPC1 maintains ER homeostasis and protein transport fidelity. TRAPPC1 deficiency impairs ER-to-Golgi trafficking, triggering unfolded protein responses (UPR), enhanced oxidative stress, and ferroptosis through calcium-mitochondrial-dependent pathways 341. Diseased-relevant roles include: (1) Thymic epithelial cell (TEC) development—TRAPPC1 deficiency causes thymus atrophy with blocked TEC maturation, reduced Aire+ medullary TECs, and spontaneous autoimmunity 3; (2) Myeloid hematopoiesis—TRAPPC1 is essential for common myeloid progenitor maintenance and differentiation into monocytes/neutrophils 4; (3) T cell homeostasis—TRAPPC1 deficiency in naive T cells causes ferroptosis-mediated death and spontaneous autoinflammatory disease 1. Additionally, TRAPPC1 mutations cause rare neurodevelopmental disorders with myopathy 5. Clinically, TRAPPC1 dysfunction presents as immunodeficiency with autoimmunity and neurological/muscular complications, making it a critical therapeutic target for immune disorders.

Sources cited
1
TRAPPC1 deficiency impairs thymic epithelial cell development through ER homeostasis breakdown, UPR activation, and apoptosis/ferroptosis
PMID: 35908180
2
TRAPPC1 is essential for common myeloid progenitor maintenance and differentiation; deficiency causes monocyte and neutrophil defects via ER stress and calcium-mitochondrial apoptosis
PMID: 36440617
3
TRAPPC1 prevents ferroptosis of naive T cells by maintaining ER-to-Golgi transport; deficiency causes spontaneous autoinflammatory disease through ferroptosis-mediated T cell death
PMID: 38234007
4
TRAPP complexes regulate ER-to-Golgi transport and autophagy; act as GEF for Rab1a/Rab1b homologs
PMID: 28536105
5
TRAPPC1 variants cause autosomal recessive neurodevelopmental disorders with myopathy; variants impair secretion and autophagy, alter Golgi morphology
PMID: 39273027
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Testicular regression syndromeOpen Targets
0.04Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.04Suggestive
Senior-Boichis syndromeOpen Targets
0.03Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.03Suggestive
sclerosing cholangitisOpen Targets
0.03Suggestive
refractive errorOpen Targets
0.02Suggestive
polycythemiaOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
thymus atrophyOpen Targets
0.00Suggestive
autoimmune thyroid diseaseOpen Targets
0.00Suggestive
spondyloepiphyseal dysplasia tarda, X-linkedOpen Targets
0.00Suggestive
Hashimoto's thyroiditisOpen Targets
0.00Suggestive
myopathyOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
autoinflammatory syndromeOpen Targets
0.00Suggestive
spondyloepiphyseal dysplasia tardaOpen Targets
0.00Suggestive
Hodgkins lymphomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB1AProtein interaction100%TRAPPC3LProtein interaction94%TRAPPC2LProtein interaction92%TRAPPC4Protein interaction89%TRAPPC2Protein interaction87%TRAPPC2BProtein interaction87%
Tissue Expression6 tissues
Lung
100%
Heart
89%
Brain
78%
Liver
67%
Ovary
52%
Bone Marrow
50%
Gene Interaction Network
Click a node to explore
TRAPPC1RAB1ATRAPPC3LTRAPPC2LTRAPPC4TRAPPC2TRAPPC2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y5R8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.55 [0.34–0.93]
RankingsWhere TRAPPC1 stands among ~20K protein-coding genes
  • #11,261of 20,598
    Most Researched34
  • #8,579of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedTRAPPC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Trappc1 deficiency impairs thymic epithelial cell development by breaking endoplasmic reticulum homeostasis.
PMID: 35908180
Eur J Immunol · 2022
1.00
2
TRAPPC1 is essential for the maintenance and differentiation of common myeloid progenitors in mice.
PMID: 36440617
EMBO Rep · 2023
0.90
3
Trappc1 intrinsically prevents ferroptosis of naive T cells to avoid spontaneous autoinflammatory disease in mice.
PMID: 38234007
Eur J Immunol · 2024
0.80
4
TRAPPC13 modulates autophagy and the response to Golgi stress.
PMID: 28536105
J Cell Sci · 2017
0.70
5
WTAP-MEDIATED M6A MODIFICATION OF KLF6 AGGRAVATES HYPOXIA/REOXYGENATION-INDUCED HUMAN CARDIOMYOCYTE INJURY.
PMID: 38662610
Shock · 2024
0.60