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TRAPPC10 trafficking protein particle complex 10 [ Homo sapiens (human) ]

Gene ID: 7109, updated on 17-Jun-2019

Summary

Official Symbol
TRAPPC10provided by HGNC
Official Full Name
trafficking protein particle complex 10provided by HGNC
Primary source
HGNC:HGNC:11868
See related
Ensembl:ENSG00000160218 MIM:602103
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EHOC1; GT334; TMEM1; TRS30; EHOC-1; TRS130
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 11.9), lymph node (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See TRAPPC10 in Genome Data Viewer
Location:
21q22.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (44012309..44106552)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45432206..45526433)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 3 Neighboring gene uncharacterized LOC105372826 Neighboring gene uncharacterized LOC105372829 Neighboring gene RNA, U6 small nuclear 1150, pseudogene Neighboring gene H2A histone family member Z pseudogene 1 Neighboring gene PWP2 small subunit processome component Neighboring gene glutamine amidotransferase like class 1 domain containing 3A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that TRAPPC10 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with TRAPPC10 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
    COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ54223, FLJ54817, FLJ55683, MGC126777

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
early endosome to Golgi transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
TRAPP complex IDA
Inferred from Direct Assay
more info
PubMed 
TRAPPII protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
trafficking protein particle complex subunit 10
Names
TRAPP 130 kDa subunit
TRAPP subunit TMEM1
epilepsy holoprosencephaly candidate-1 protein
trafficking protein particle complex subunit 130
trafficking protein particle complex subunit TMEM1
transmembrane protein 1
transport protein particle subunit TMEM1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008658.1 RefSeqGene

    Range
    5001..99228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351709.1NP_001338638.1  trafficking protein particle complex subunit 10 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks several coding exons at the 5' end, and uses a novel splice in an internal exon, resulting in the use of a downstream start codon compared to variant1. The encoded isoform (b) has a shorter N-terminus compared to isoform 1
    Source sequence(s)
    AB001517, AB001523
    Conserved Domains (1) summary
    pfam12584
    Location:551779
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  2. NM_003274.5NP_003265.3  trafficking protein particle complex subunit 10 isoform a

    See identical proteins and their annotated locations for NP_003265.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB001517, AB001523, AL559301, BC101728
    Consensus CDS
    CCDS13704.1
    UniProtKB/Swiss-Prot
    P48553
    Related
    ENSP00000291574.4, ENST00000291574.9
    Conserved Domains (1) summary
    pfam12584
    Location:10181246
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    44012309..44106552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529714.2XP_011528016.1  trafficking protein particle complex subunit 10 isoform X1

    Conserved Domains (1) summary
    pfam12584
    Location:10551283
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  2. XM_011529715.2XP_011528017.1  trafficking protein particle complex subunit 10 isoform X2

    Conserved Domains (1) summary
    pfam12584
    Location:10141242
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  3. XM_005261168.4XP_005261225.1  trafficking protein particle complex subunit 10 isoform X4

    Conserved Domains (1) summary
    pfam12584
    Location:9771205
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  4. XM_011529716.2XP_011528018.1  trafficking protein particle complex subunit 10 isoform X3

    Conserved Domains (1) summary
    pfam12584
    Location:10061234
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  5. XM_017028454.2XP_016883943.1  trafficking protein particle complex subunit 10 isoform X5

  6. XM_011529719.2XP_011528021.1  trafficking protein particle complex subunit 10 isoform X8

    Conserved Domains (1) summary
    pfam12584
    Location:9071135
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  7. XM_011529726.2XP_011528028.1  trafficking protein particle complex subunit 10 isoform X14

    See identical proteins and their annotated locations for XP_011528028.1

    Conserved Domains (1) summary
    pfam11817
    Location:459548
    Foie-gras_1; Foie gras liver health family 1
  8. XM_011529718.2XP_011528020.1  trafficking protein particle complex subunit 10 isoform X7

    Conserved Domains (1) summary
    pfam12584
    Location:10551152
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  9. XM_011529717.2XP_011528019.1  trafficking protein particle complex subunit 10 isoform X6

    Conserved Domains (1) summary
    pfam12584
    Location:10551152
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  10. XM_011529720.2XP_011528022.1  trafficking protein particle complex subunit 10 isoform X9

  11. XM_011529725.2XP_011528027.1  trafficking protein particle complex subunit 10 isoform X14

    See identical proteins and their annotated locations for XP_011528027.1

  12. XM_011529730.2XP_011528032.1  trafficking protein particle complex subunit 10 isoform X18

  13. XM_024452128.1XP_024307896.1  trafficking protein particle complex subunit 10 isoform X11

    Conserved Domains (1) summary
    pfam12584
    Location:8641092
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  14. XM_011529728.3XP_011528030.1  trafficking protein particle complex subunit 10 isoform X16

    Conserved Domains (1) summary
    pfam12584
    Location:729957
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  15. XM_011529721.2XP_011528023.1  trafficking protein particle complex subunit 10 isoform X10

    Conserved Domains (1) summary
    pfam12584
    Location:8661094
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  16. XM_011529723.2XP_011528025.1  trafficking protein particle complex subunit 10 isoform X13

    Conserved Domains (1) summary
    pfam12584
    Location:8211049
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  17. XM_011529729.2XP_011528031.1  trafficking protein particle complex subunit 10 isoform X17

    Conserved Domains (1) summary
    pfam12584
    Location:717945
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  18. XM_011529722.2XP_011528024.1  trafficking protein particle complex subunit 10 isoform X12

    Conserved Domains (1) summary
    pfam12584
    Location:8511079
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10
  19. XM_011529727.2XP_011528029.1  trafficking protein particle complex subunit 10 isoform X15

    Conserved Domains (1) summary
    pfam12584
    Location:766994
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

RNA

  1. XR_937558.2 RNA Sequence

  2. XR_001754893.1 RNA Sequence

  3. XR_001754896.1 RNA Sequence

  4. XR_001754895.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001723.1: Suppressed sequence

    Description
    NM_001001723.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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