TRAPPC6B
Trafficking protein particle complex subunit 6B
Also known as: TPC6B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86SZ2
- Gene
- TRAPPC6B
- Ensembl
- ENSG00000182400
- Chromosome
- 14
- Canonical length
- 158 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Endoplasmic reticulum
- Quaternary structure
- Homodimer
OverviewNCBI Gene
TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
158 residues, UniProt reviewed canonical sequence.
>Q86SZ2|TRAPPC6B
1 MADEALFLLL HNEMVSGVYK SAEQGEVENG RCITKLENMG FRVGQGLIER FTKDTARFKD
61 ELDIMKFICK DFWTTVFKKQ IDNLRTNHQG IYVLQDNKFR LLTQMSAGKQ YLEHASKYLA
121 FTCGLIRGGL SNLGIKSIVT AEVSSMPACK FQVMIQKLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TRAPPC6B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 35 nTPM
- cerebral cortex: 27 nTPM
- liver: 23 nTPM
- retina: 23 nTPM
- basal ganglia: 21 nTPM
- hippocampal formation: 19 nTPM
Single-cell type
- esophageal apical cells: 136 nCPM
- sertoli cells: 116 nCPM
- choroid plexus epithelial cells: 104 nCPM
- distal convoluted tubule cells: 81 nCPM
- cardiomyocytes: 79 nCPM
- renal collecting duct intercalated cells: 78 nCPM
Immune cell
- basophil: 9 nTPM
- NK-cell: 7.7 nTPM
- non-classical monocyte: 7.1 nTPM
- intermediate monocyte: 6.8 nTPM
- eosinophil: 5.6 nTPM
- myeloid DC: 4.8 nTPM
Brain region
- cerebral cortex: 37 nTPM
- hippocampal formation: 32 nTPM
- cerebellum: 30 nTPM
- basal ganglia: 30 nTPM
- hypothalamus: 27 nTPM
- pons: 25 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TRAPPC6B.
Disease | AllUniProt
Conditions TRAPPC6B is implicated in, by any mechanism.
- Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) MIM:617862
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 81 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- TRAPPC6B-related disorder
- TRAPPC6B-related neurodevelopmental disorder
- Inborn genetic diseases
- Colorectal cancer
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.32
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.11
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endoplasmic reticulum to Golgi vesicle-mediated transport
- nervous system development
- vesicle coating
- vesicle tethering
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TRAPPC6B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TRAPPC6B as an antibody target. Whether an autoantibody or antibody against TRAPPC6B could matter depends on whether native TRAPPC6B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TRAPPC6B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TRAPPC6B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...