TRAPPC10
Trafficking protein particle complex subunit 10
Also known as: EHOC-1, TMEM1, TPC10_HUMAN, TRS130
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P48553
- Gene
- TRAPPC10
- Ensembl
- ENSG00000160218
- Chromosome
- 21
- Canonical length
- 1259 aa
- Protein class
- Disease related genes, Plasma proteins, Predicted intracellular proteins
OverviewNCBI Gene
The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1259 residues, UniProt reviewed canonical sequence.
>P48553|TRAPPC10
1 MDASEEPLPP VIYTMENKPI VTCAGDQNLF TSVYPTLSQQ LPREPMEWRR SYGRAPKMIH
61 LESNFVQFKE ELLPKEGNKA LLTFPFLHIY WTECCDTEVY KATVKDDLTK WQNVLKAHSS
121 VDWLIVIVEN DAKKKNKTNI LPRTSIVDKI RNDFCNKQSD RCVVLSDPLK DSSRTQESWN
181 AFLTKLRTLL LMSFTKNLGK FEDDMRTLRE KRTEPGWSFC EYFMVQEELA FVFEMLQQFE
241 DALVQYDELD ALFSQYVVNF GAGDGANWLT FFCQPVKSWN GLILRKPIDM EKRESIQRRE
301 ATLLDLRSYL FSRQCTLLLF LQRPWEVAQR ALELLHNCVQ ELKLLEVSVP PGALDCWVFL
361 SCLEVLQRIE GCCDRAQIDS NIAHTVGLWS YATEKLKSLG YLCGLVSEKG PNSEDLNRTV
421 DLLAGLGAER PETANTAQSP YKKLKEALSS VEAFEKHYLD LSHATIEMYT SIGRIRSAKF
481 VGKDLAEFYM RKKAPQKAEI YLQGALKNYL AEGWALPITH TRKQLAECQK HLGQIENYLQ
541 TSSLLASDHH LTEEERKHFC QEILDFASQP SDSPGHKIVL PMHSFAQLRD LHFDPSNAVV
601 HVGGVLCVEI TMYSQMPVPV HVEQIVVNVH FSIEKNSYRK TAEWLTKHKT SNGIINFPPE
661 TAPFPVSQNS LPALELYEMF ERSPSDNSLN TTGIICRNVH MLLRRQESSS SLEMPSGVAL
721 EEGAHVLRCS HVTLEPGANQ ITFRTQAKEP GTYTLRQLCA SVGSVWFVLP HIYPIVQYDV
781 YSQEPQLHVE PLADSLLAGI PQRVKFTVTT GHYTIKNGDS LQLSNAEAML ILCQAESRAV
841 VYSNTREQSS EAALRIQSSD KVTSISLPVA PAYHVIEFEL EVLSLPSAPA LGGESDMLGM
901 AEPHRKHKDK QRTGRCMVTT DHKVSIDCPW SIYSTVIALT FSVPFRTTHS LLSSGTRKYV
961 QVCVQNLSEL DFQLSDSYLV DTGDSTDLQL VPLNTQSQQP IYSKQSVFFV WELKWTEEPP
1021 PSLHCRFSVG FSPASEEQLS ISLKPYTYEF KVENFFTLYN VKAEIFPPSG MEYCRTGSLC
1081 SLEVLITRLS DLLEVDKDEA LTESDEHFST KLMYEVVDNS SNWAVCGKSC GVISMPVAAR
1141 ATHRVHMEVM PLFAGYLPLP DVRLFKYLPH HSAHSSQLDA DSWIENDSLS VDKHGDDQPD
1201 SSSLKSRGSV HSACSSEHKG LPMPRLQALP AGQVFNSSSG TQVLVIPSQD DHVLEVSVTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TRAPPC10 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)
- 0.32
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 22 nTPM
- lymph node: 20 nTPM
- thymus: 19 nTPM
- tonsil: 17 nTPM
- spleen: 16 nTPM
- rectum: 14 nTPM
Single-cell type
- podocytes: 256 nCPM
- nk-cells: 254 nCPM
- neutrophil progenitors: 170 nCPM
- neutrophils: 170 nCPM
- oligodendrocytes: 169 nCPM
- t-cells: 162 nCPM
Immune cell
- basophil: 9.7 nTPM
- MAIT T-cell: 2.4 nTPM
- gdT-cell: 2 nTPM
- NK-cell: 1.9 nTPM
- memory CD8 T-cell: 1.6 nTPM
- non-classical monocyte: 1.6 nTPM
Brain region
- white matter: 35 nTPM
- basal ganglia: 24 nTPM
- pons: 23 nTPM
- midbrain: 22 nTPM
- cerebral cortex: 21 nTPM
- thalamus: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TRAPPC10.
Disease | AllUniProt
Conditions TRAPPC10 is implicated in, by any mechanism.
- Neurodevelopmental disorder with microcephaly, short stature, and speech delay (NEDMISS) MIM:620027
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 210 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with microcephaly, short stature, and speech delay
- Intellectual disability
- TRAPPopathy microcephalic
- NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES
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)
- 0.2
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.56
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- early endosome to Golgi transport
- endoplasmic reticulum to Golgi vesicle-mediated transport
- intra-Golgi vesicle-mediated transport
- vesicle coating
- vesicle tethering
Cellular components
Protein domainsUniProt · Pfam · InterPro
- TRAPPC10/Trs130, C-terminal
- Trafficking protein particle complex subunit TRAPPC10/Trs130
- TRAPPC10/Trs130, N-terminal
- TRAPPC10, Ig-like domain
- Trafficking protein particle complex subunit 10, TRAPPC10
- Trafficking protein particle complex subunit 10-like, N-terminal
- TRAPPC10-like, immunoglobulin-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TRAPPC10 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 TRAPPC10 as an antibody target. Whether an autoantibody or antibody against TRAPPC10 could matter depends on whether native TRAPPC10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TRAPPC10 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.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1.
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