U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 7109, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
TRAPPC10provided by HGNC
Official Full Name
trafficking protein particle complex subunit 10provided by HGNC
Primary source
HGNC:HGNC:11868
See related
Ensembl:ENSG00000160218 MIM:602103; AllianceGenome:HGNC:11868
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; NEDMISS
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TRAPPC10 in Genome Data Viewer
Location:
21q22.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44012309..44106552)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42367933..42462167)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45432190..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 H3K4me1 hESC enhancer GRCh37_chr21:45376043-45376543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45401087-45401848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45401849-45402610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45402611-45403372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45405825-45406355 Neighboring gene uncharacterized LOC105372829 Neighboring gene RNA, U6 small nuclear 1150, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18560 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45452244-45452456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45487136-45487678 Neighboring gene H2A.Z histone pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45526826-45527342 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45530994-45531196 Neighboring gene Sharpr-MPRA regulatory region 9823 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45553065-45553592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45553593-45554120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45554121-45554648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13210 Neighboring gene PWP2 small subunit processome component Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45561103-45561261 Neighboring gene glutamine amidotransferase class 1 domain containing 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Yamakawa K, et al. Hum Mol Genet, 1995 Apr. PMID 7633421
  2. Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. Lafrenière RG, et al. Gene, 1997 Oct 1. PMID 9370297
  3. Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. Rawlins LE, et al. PLoS Genet, 2022 Mar. PMID 35298461, Free PMC Article
  4. Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3. Nagamine K, et al. Biochem Biophys Res Commun, 1997 Jun 9. PMID 9196060
  5. Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3. Nagamine K, et al. Biochem Biophys Res Commun, 1996 Aug 14. PMID 8753807

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
MedGen: C5774211 OMIM: 620027 GeneReviews: Not available
not available

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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 PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ54223, FLJ54817, FLJ55683, MGC126777

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in early endosome to Golgi transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intra-Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle coating NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in vesicle tethering NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of TRAPP complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of TRAPPII protein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of TRAPPII protein complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
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 10
trafficking protein particle complex subunit 130
trafficking protein particle complex subunit TMEM1
transmembrane protein 1
transport protein particle subunit TMEM1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_008658.2 RefSeqGene

    Range
    5002..99245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351709.1 → NP_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:551 → 779
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  2. NM_003274.5 → NP_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, Q3MIR2, Q86SI7, Q9UMD4, Q9Y4L3
    Related
    ENSP00000291574.4, ENST00000291574.9
    Conserved Domains (1) summary
    pfam12584
    Location:1018 → 1246
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011529714.3 → XP_011528016.1  trafficking protein particle complex subunit 10 isoform X1

    Conserved Domains (1) summary
    pfam12584
    Location:1055 → 1283
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  2. XM_011529715.3 → XP_011528017.1  trafficking protein particle complex subunit 10 isoform X2

    Conserved Domains (1) summary
    pfam12584
    Location:1014 → 1242
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  3. XM_005261168.5 → XP_005261225.1  trafficking protein particle complex subunit 10 isoform X4

    Conserved Domains (1) summary
    pfam12584
    Location:977 → 1205
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  4. XM_011529716.3 → XP_011528018.1  trafficking protein particle complex subunit 10 isoform X3

    Conserved Domains (1) summary
    pfam12584
    Location:1006 → 1234
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  5. XM_017028454.3 → XP_016883943.1  trafficking protein particle complex subunit 10 isoform X5

  6. XM_011529719.3 → XP_011528021.1  trafficking protein particle complex subunit 10 isoform X8

    Conserved Domains (1) summary
    pfam12584
    Location:907 → 1135
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  7. XM_047440971.1 → XP_047296927.1  trafficking protein particle complex subunit 10 isoform X10

  8. XM_011529726.3 → XP_011528028.1  trafficking protein particle complex subunit 10 isoform X17

    See identical proteins and their annotated locations for XP_011528028.1

    Conserved Domains (1) summary
    pfam11817
    Location:459 → 548
    Foie-gras_1; Foie gras liver health family 1

  9. XM_011529718.3 → XP_011528020.1  trafficking protein particle complex subunit 10 isoform X7

    Conserved Domains (1) summary
    pfam12584
    Location:1055 → 1152
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  10. XM_047440970.1 → XP_047296926.1  trafficking protein particle complex subunit 10 isoform X9

  11. XM_011529717.3 → XP_011528019.1  trafficking protein particle complex subunit 10 isoform X6

    Conserved Domains (1) summary
    pfam12584
    Location:1055 → 1152
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  12. XM_011529720.3 → XP_011528022.1  trafficking protein particle complex subunit 10 isoform X11

  13. XM_011529725.3 → XP_011528027.1  trafficking protein particle complex subunit 10 isoform X17

    See identical proteins and their annotated locations for XP_011528027.1

  14. XM_011529730.3 → XP_011528032.1  trafficking protein particle complex subunit 10 isoform X20

  15. XM_047440976.1 → XP_047296932.1  trafficking protein particle complex subunit 10 isoform X21

  16. XM_047440973.1 → XP_047296929.1  trafficking protein particle complex subunit 10 isoform X15

  17. XM_011529721.3 → XP_011528023.1  trafficking protein particle complex subunit 10 isoform X12

    Conserved Domains (1) summary
    pfam12584
    Location:866 → 1094
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  18. XM_047440972.1 → XP_047296928.1  trafficking protein particle complex subunit 10 isoform X14

  19. XM_011529723.3 → XP_011528025.1  trafficking protein particle complex subunit 10 isoform X16

    Conserved Domains (1) summary
    pfam12584
    Location:821 → 1049
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  20. XM_011529722.3 → XP_011528024.1  trafficking protein particle complex subunit 10 isoform X13

    Conserved Domains (1) summary
    pfam12584
    Location:851 → 1079
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  21. XM_047440975.1 → XP_047296931.1  trafficking protein particle complex subunit 10 isoform X19

  22. XM_011529727.3 → XP_011528029.1  trafficking protein particle complex subunit 10 isoform X18

    Conserved Domains (1) summary
    pfam12584
    Location:766 → 994
    TRAPPC10; Trafficking protein particle complex subunit 10, TRAPPC10

  23. XM_047440974.1 → XP_047296930.1  trafficking protein particle complex subunit 10 isoform X18

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    42367933..42462167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324809.1 → XP_054180784.1  trafficking protein particle complex subunit 10 isoform X1

  2. XM_054324810.1 → XP_054180785.1  trafficking protein particle complex subunit 10 isoform X2

  3. XM_054324812.1 → XP_054180787.1  trafficking protein particle complex subunit 10 isoform X4

  4. XM_054324811.1 → XP_054180786.1  trafficking protein particle complex subunit 10 isoform X3

  5. XM_054324813.1 → XP_054180788.1  trafficking protein particle complex subunit 10 isoform X5

  6. XM_054324816.1 → XP_054180791.1  trafficking protein particle complex subunit 10 isoform X8

  7. XM_054324818.1 → XP_054180793.1  trafficking protein particle complex subunit 10 isoform X10

  8. XM_054324815.1 → XP_054180790.1  trafficking protein particle complex subunit 10 isoform X7

  9. XM_054324826.1 → XP_054180801.1  trafficking protein particle complex subunit 10 isoform X17

  10. XM_054324817.1 → XP_054180792.1  trafficking protein particle complex subunit 10 isoform X9

  11. XM_054324814.1 → XP_054180789.1  trafficking protein particle complex subunit 10 isoform X6

  12. XM_054324819.1 → XP_054180794.1  trafficking protein particle complex subunit 10 isoform X11

  13. XM_054324825.1 → XP_054180800.1  trafficking protein particle complex subunit 10 isoform X17

  14. XM_054324830.1 → XP_054180805.1  trafficking protein particle complex subunit 10 isoform X20

  15. XM_054324831.1 → XP_054180806.1  trafficking protein particle complex subunit 10 isoform X21

  16. XM_054324823.1 → XP_054180798.1  trafficking protein particle complex subunit 10 isoform X15

  17. XM_054324820.1 → XP_054180795.1  trafficking protein particle complex subunit 10 isoform X12

  18. XM_054324822.1 → XP_054180797.1  trafficking protein particle complex subunit 10 isoform X14

  19. XM_054324824.1 → XP_054180799.1  trafficking protein particle complex subunit 10 isoform X16

  20. XM_054324821.1 → XP_054180796.1  trafficking protein particle complex subunit 10 isoform X13

  21. XM_054324829.1 → XP_054180804.1  trafficking protein particle complex subunit 10 isoform X19

  22. XM_054324827.1 → XP_054180802.1  trafficking protein particle complex subunit 10 isoform X18

  23. XM_054324828.1 → XP_054180803.1  trafficking protein particle complex subunit 10 isoform X18

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48553.2 GenPept UniProtKB/Swiss-Prot:P48553

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous