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

Summary

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20249 (e-PCR)
- UniSTS:30518

A005B40 (e-PCR)
- UniSTS:30519

D1S2383 (e-PCR)
- UniSTS:83269

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 more info	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

NG_051632.1 RefSeqGene

Range

5021..10120

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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