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

    Gene ID: 7109, updated on 27-Nov-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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

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