EXOC8
Exocyst complex component 8
Also known as: EXO84, Exo84p, EXOC8_HUMAN, SEC84
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IYI6
- Gene
- EXOC8
- Ensembl
- ENSG00000116903
- Chromosome
- 1
- Canonical length
- 725 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
725 residues, UniProt reviewed canonical sequence.
>Q8IYI6|EXOC8
1 MAMAMSDSGA SRLRRQLESG GFEARLYVKQ LSQQSDGDRD LQEHRQRIQA LAEETAQNLK
61 RNVYQNYRQF IETAREISYL ESEMYQLSHL LTEQKSSLES IPLTLLPAAA AAGAAAASGG
121 EEGVGGAGGR DHLRGQAGFF STPGGASRDG SGPGEEGKQR TLTTLLEKVE GCRHLLETPG
181 QYLVYNGDLV EYDADHMAQL QRVHGFLMND CLLVATWLPQ RRGMYRYNAL YSLDGLAVVN
241 VKDNPPMKDM FKLLMFPESR IFQAENAKIK REWLEVLEDT KRALSEKRRR EQEEAAAPRG
301 PPQVTSKATN PFEDDEEEEP AVPEVEEEKV DLSMEWIQEL PEDLDVCIAQ RDFEGAVDLL
361 DKLNHYLEDK PSPPPVKELR AKVEERVRQL TEVLVFELSP DRSLRGGPKA TRRAVSQLIR
421 LGQCTKACEL FLRNRAAAVH TAIRQLRIEG ATLLYIHKLC HVFFTSLLET AREFEIDFAG
481 TDSGCYSAFV VWARSAMGMF VDAFSKQVFD SKESLSTAAE CVKVAKEHCQ QLGDIGLDLT
541 FIIHALLVKD IQGALHSYKE IIIEATKHRN SEEMWRRMNL MTPEALGKLK EEMKSCGVSN
601 FEQYTGDDCW VNLSYTVVAF TKQTMGFLEE ALKLYFPELH MVLLESLVEI ILVAVQHVDY
661 SLRCEQDPEK KAFIRQNASF LYETVLPVVE KRFEEGVGKP AKQLQDLRNA SRLIRVNPES
721 TTSVVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EXOC8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 16 nTPM
- skeletal muscle: 13 nTPM
- tongue: 9.2 nTPM
- lymph node: 8.6 nTPM
- tonsil: 8.6 nTPM
- parathyroid gland: 8.2 nTPM
Single-cell type
- neutrophils: 31 nCPM
- thymic myoid cells: 19 nCPM
- kupffer cells: 18 nCPM
- medullary thymic epithelial cells: 17 nCPM
- neutrophil progenitors: 16 nCPM
- suprabasal keratinocytes: 15 nCPM
Immune cell
- neutrophil: 2.2 nTPM
- basophil: 1.7 nTPM
- non-classical monocyte: 1.6 nTPM
- eosinophil: 1.3 nTPM
- naive CD8 T-cell: 1.2 nTPM
- intermediate monocyte: 0.8 nTPM
Brain region
- cerebellum: 18 nTPM
- hypothalamus: 17 nTPM
- cerebral cortex: 16 nTPM
- white matter: 16 nTPM
- pons: 15 nTPM
- thalamus: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EXOC8.
Disease | AllUniProt
Conditions EXOC8 is implicated in, by any mechanism.
- Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) MIM:619076
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 106 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.04
- DepMap mean gene effect
- -0.42
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endosome organization
- exocytosis
- extracellular matrix disassembly
- Golgi to plasma membrane transport
- intracellular protein localization
- membrane fission
- mitotic cytokinesis
- protein transport
- regulation of macroautophagy
- vesicle docking involved in exocytosis
- vesicle tethering involved in exocytosis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Pleckstrin homology domain
- PH-like domain superfamily
- Cullin repeat-like-containing domain superfamily
- Vps51/EXO84/COG1 N-terminal
- Exocyst component Exo84, C-terminal
- Exocyst complex component Exo84
- Exocyst component Exo84, C-terminal, subdomain 2
- Exocyst component Exo84, C-terminal, subdomain 1
- Exocyst component 84 C-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EXOC8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EXOC8 as an antibody target. Whether an autoantibody or antibody against EXOC8 could matter depends on whether native EXOC8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EXOC8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EXOC8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...