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    TRAPPC8 trafficking protein particle complex subunit 8 [ Homo sapiens (human) ]

    Gene ID: 22878, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TRAPPC8provided by HGNC
    Official Full Name
    trafficking protein particle complex subunit 8provided by HGNC
    Primary source
    HGNC:HGNC:29169
    See related
    Ensembl:ENSG00000153339 MIM:614136; AllianceGenome:HGNC:29169
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GSG1; TRS85; HsT2706; KIAA1012
    Summary
    Involved in Golgi organization and collagen biosynthetic process. Part of TRAPP complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 23.5), thyroid (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRAPPC8 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31829197..31943128, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (32019706..32133657, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29409160..29523091, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene golgi SNAP receptor complex member 2 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:29318221-29319420 Neighboring gene solute carrier family 25 member 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13207 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29383595-29384386 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29389007-29389784 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29389785-29390562 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29390563-29391340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:29399375-29399875 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29405731-29406276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29406277-29406822 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29406823-29407368 Neighboring gene MPRA-validated peak3103 silencer Neighboring gene family with sequence similarity 76 member A pseudogene Neighboring gene MPRA-validated peak3104 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29521986-29522764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13208 Neighboring gene RNA, U6 small nuclear 1050, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29526223-29526906 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29526907-29527590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9387 Neighboring gene epsin 2 pseudogene Neighboring gene phosphogluconate dehydrogenase pseudogene 1

    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. TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic. Lamb CA, et al. EMBO J, 2016 Feb 1. PMID 26711178, Free PMC Article
    2. The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. Zong M, et al. PLoS One, 2011. PMID 21858081, Free PMC Article
    3. Identification and characterization of five new subunits of TRAPP. Sacher M, et al. Eur J Cell Biol, 2000 Feb. PMID 10727015
    4. Organization and assembly of the TRAPPII complex. Choi C, et al. Traffic, 2011 Jun. PMID 21453443
    5. Broadly conserved roles of TMEM131 family proteins in intracellular collagen assembly and secretory cargo trafficking. Zhang Z, et al. Sci Adv, 2020 Feb. PMID 32095531, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TRAPPC8 modulates autophagy and secretory trafficking and is required for TBC1D14 to bind TRAPPIII.
      Title: TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic.
    2. Data show that a disease-causing mutation of TRAPPC2, D47Y, failed to interact with either TRAPPC9 or TRAPPC8, suggesting that aspartate 47 in TRAPPC2 is at or near the site of interaction with TRAPPC9 or TRAPPC8.
      Title: The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of trafficking protein particle complex 8 (TRAPPC8) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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

    • KIAA1012, MGC71660

    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 COPII vesicle coating NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport 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 TRAPPIII protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TRAPPIII 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 8
    Names
    general sporulation gene 1 homolog
    protein TRS85 homolog
    trafficking protein particle complex 8

    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.

    mRNA and Protein(s)

    1. NM_014939.5 → NP_055754.3  trafficking protein particle complex subunit 8

      Status: VALIDATED

      Source sequence(s)
      AC009831, AC022960
      Consensus CDS
      CCDS11901.1
      UniProtKB/Swiss-Prot
      A0JP15, B3KME5, Q9H0L2, Q9Y2L5
      UniProtKB/TrEMBL
      J3QQJ5
      Related
      ENSP00000283351.4, ENST00000283351.10
      Conserved Domains (1) summary
      pfam12739
      Location:160 → 604
      TRAPPC-Trs85; ER-Golgi trafficking TRAPP I complex 85 kDa subunit

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      31829197..31943128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025616.3 → XP_016881105.1  trafficking protein particle complex subunit 8 isoform X5

      UniProtKB/TrEMBL
      J3QQJ5

    2. XM_005258234.4 → XP_005258291.1  trafficking protein particle complex subunit 8 isoform X4

      UniProtKB/TrEMBL
      J3QQJ5
      Conserved Domains (1) summary
      pfam12739
      Location:158 → 605
      TRAPPC-Trs85; ER-Golgi trafficking TRAPP I complex 85 kDa subunit

    3. XM_005258233.4 → XP_005258290.1  trafficking protein particle complex subunit 8 isoform X1

      UniProtKB/TrEMBL
      J3QQJ5
      Conserved Domains (1) summary
      pfam12739
      Location:158 → 605
      TRAPPC-Trs85; ER-Golgi trafficking TRAPP I complex 85 kDa subunit

    4. XM_017025615.2 → XP_016881104.1  trafficking protein particle complex subunit 8 isoform X3

      UniProtKB/TrEMBL
      J3QQJ5
      Related
      ENSP00000463764.1, ENST00000582539.5

    5. XM_047437353.1 → XP_047293309.1  trafficking protein particle complex subunit 8 isoform X2

    6. XM_005258235.4 → XP_005258292.1  trafficking protein particle complex subunit 8 isoform X10

      UniProtKB/TrEMBL
      J3QQJ5
      Conserved Domains (1) summary
      pfam12739
      Location:14 → 330
      TRAPPC-Trs85; ER-Golgi trafficking TRAPP I complex 85 kDa subunit

    7. XM_047437356.1 → XP_047293312.1  trafficking protein particle complex subunit 8 isoform X9

    8. XM_047437355.1 → XP_047293311.1  trafficking protein particle complex subunit 8 isoform X8

    9. XM_047437354.1 → XP_047293310.1  trafficking protein particle complex subunit 8 isoform X7

    10. XM_006722420.5 → XP_006722483.1  trafficking protein particle complex subunit 8 isoform X6

      UniProtKB/TrEMBL
      J3QQJ5
      Conserved Domains (1) summary
      pfam12739
      Location:158 → 605
      TRAPPC-Trs85; ER-Golgi trafficking TRAPP I complex 85 kDa subunit

    11. XM_047437357.1 → XP_047293313.1  trafficking protein particle complex subunit 8 isoform X11

      Related
      ENSP00000462550.1, ENST00000580104.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      32019706..32133657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318298.1 → XP_054174273.1  trafficking protein particle complex subunit 8 isoform X5

    2. XM_054318297.1 → XP_054174272.1  trafficking protein particle complex subunit 8 isoform X4

    3. XM_054318294.1 → XP_054174269.1  trafficking protein particle complex subunit 8 isoform X1

    4. XM_054318296.1 → XP_054174271.1  trafficking protein particle complex subunit 8 isoform X3

    5. XM_054318295.1 → XP_054174270.1  trafficking protein particle complex subunit 8 isoform X2

    6. XM_054318303.1 → XP_054174278.1  trafficking protein particle complex subunit 8 isoform X10

    7. XM_054318302.1 → XP_054174277.1  trafficking protein particle complex subunit 8 isoform X9

    8. XM_054318301.1 → XP_054174276.1  trafficking protein particle complex subunit 8 isoform X8

    9. XM_054318300.1 → XP_054174275.1  trafficking protein particle complex subunit 8 isoform X7

    10. XM_054318299.1 → XP_054174274.1  trafficking protein particle complex subunit 8 isoform X6

    11. XM_054318304.1 → XP_054174279.1  trafficking protein particle complex subunit 8 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2L5.2 GenPept UniProtKB/Swiss-Prot:Q9Y2L5

    Gene LinkOut

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