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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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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, seizures, and brain atrophy
MedGen: C5436747 OMIM: 619076 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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