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    EXOC8 exocyst complex component 8 [ Homo sapiens (human) ]

    Gene ID: 149371, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EXOC8provided by HGNC
    Official Full Name
    exocyst complex component 8provided by HGNC
    Primary source
    HGNC:HGNC:24659
    See related
    Ensembl:ENSG00000116903 MIM:615283; AllianceGenome:HGNC:24659
    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
    EXO84; SEC84; Exo84p; NEDMISB
    Summary
    This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]
    Orthologs
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    Genomic context

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    See EXOC8 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (231332753..231337852, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230716003..230721102, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231468499..231473598, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:231376971-231377860 Neighboring gene glyceronephosphate O-acyltransferase Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:231420145-231420646 Neighboring gene RNA, 5S ribosomal pseudogene 80 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231472900-231473775 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231473776-231474650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231474651-231475525 Neighboring gene SprT-like N-terminal domain Neighboring gene uncharacterized LOC107985360 Neighboring gene egl-9 family hypoxia inducible factor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Sec5 and Exo84 foster oncogenic ras-mediated tumorigenesis. Issaq SH, et al. Mol Cancer Res, 2010 Feb. PMID 20145037, Free PMC Article
    2. Sec5 and Exo84 mediate distinct aspects of RalA-dependent cell polarization. Hazelett CC, et al. PLoS One, 2012. PMID 22761837, Free PMC Article
    3. Immunological characterization of exocyst complex subunits in cell differentiation. Wang S, et al. Hybrid Hybridomics, 2003 Jun. PMID 12954101
    4. Endosomal WASH and exocyst complexes control exocytosis of MT1-MMP at invadopodia. Monteiro P, et al. J Cell Biol, 2013 Dec 23. PMID 24344185, Free PMC Article
    5. SH3BP1, an exocyst-associated RhoGAP, inactivates Rac1 at the front to drive cell motility. Parrini MC, et al. Mol Cell, 2011 Jun 10. PMID 21658605, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We identified interactions between RalA and its effectors sec5 and exo84 in the Exocyst complex as directly necessary for migration and invasion of prostate cancer tumor cells.
      Title: Sec5 and Exo84 mediate distinct aspects of RalA-dependent cell polarization.
    2. shRNA-mediated knockdown of the Ral effector proteins Sec5 and Exo84, but less so in the case of RalBP1, reduced oncogenic RalGEF-mediated transformation and oncogenic Ras-driven tumorigenic growth of human cells.
      Title: Sec5 and Exo84 foster oncogenic ras-mediated tumorigenesis.
    3. evidence that mammalian exocyst components are present as distinct subcomplexes on vesicles and the plasma membrane and that Ral GTPases regulate the assembly interface of a full octameric exocyst complex through interaction with Sec5 and Exo84
      Title: Ral GTPases regulate exocyst assembly through dual subunit interactions.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
    MedGen: C5436747 OMIM: 619076 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within exocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in extracellular matrix disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic cytokinesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of macroautophagy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle docking involved in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in vesicle tethering involved in exocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell leading edge IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of exocyst IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of exocyst IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of exocyst NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    exocyst complex component 8
    Names
    exocyst complex 84 kDa subunit

    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_051632.1 RefSeqGene

      Range
      5021..10120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_175876.5 → NP_787072.2  exocyst complex component 8

      See identical proteins and their annotated locations for NP_787072.2

      Status: REVIEWED

      Source sequence(s)
      AK096460, BC035763, CA775845, DA884148, DB442221
      Consensus CDS
      CCDS1593.1
      UniProtKB/Swiss-Prot
      B3KU33, Q5TE82, Q8IYI6
      Related
      ENSP00000355605.2, ENST00000366645.1
      Conserved Domains (3) summary
      cd01226
      Location:176 → 288
      PH_RalBD_exo84; Exocyst complex 84-kDa subunit Ral-binding domain/Pleckstrin Homology (PH) domain
      pfam08700
      Location:17 → 101
      Vps51; Vps51/Vps67
      pfam16528
      Location:335 → 540
      Exo84_C; Exocyst component 84 C-terminal

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      231332753..231337852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      230716003..230721102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYI6.2 GenPept UniProtKB/Swiss-Prot:Q8IYI6

    Gene LinkOut

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

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