Version: 8.0.0
Date: Tue Jan 28 2025
EXOSC5
Homo sapiensHGNC:24662
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

EXOSC5

Species
Homo sapiens
Symbol
EXOSC5
Name
exosome component 5
Synonyms
  • CABAC
  • chronic myelogenous leukemia tumor antigen 28
Biotype
protein coding gene
Automated Description
Predicted to enable RNA binding activity. Involved in DNA deamination; RNA processing; and mRNA catabolic process. Acts upstream of or within defense response to virus. Located in euchromatin; nucleolus; and nucleoplasm. Part of cytosol; exosome (RNase complex); and nucleus.
RGD Description
Predicted to enable RNA binding activity. Involved in DNA deamination; RNA processing; and mRNA catabolic process. Acts upstream of or within defense response to virus. Located in euchromatin; nucleolus; and nucleoplasm. Part of cytosol; exosome (RNase complex); and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11953
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusExosc510 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusExosc510 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevisexosc5.L1 of 1YesYes          ☑ 
Xenopus tropicalisexosc55 of 9YesYes☑ ☐☐☑☑☐☑☑☐  
Danio rerioexosc510 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogasterRrp469 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Caenorhabditis eleganscrn-58 of 9YesYes☑ ☑☑☑☑☑☑☑☐  
Saccharomyces cerevisiaeRRP468 of 9YesYes☑ ☑☑☑☑☑☑☑☐  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
EXOSC4121947325 of 8☑ ☑☑☐☐☑☑☐ 
EXOSC6226540304 of 8☑ ☑☐☐☐☑☑☐ 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Absent speech
Astigmatism
Ataxia
Autosomal recessive inheritance
Camptodactyly
Cerebellar atrophy
Cerebral cortical atrophy
Clinodactyly
CNS hypomyelination
Deviated nasal septum
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000019.10:g.41397210C>Gvariant
    SNP
    • missense variant
    NC_000019.10:g.41386638T>Cvariant
    SNP
    • missense variant
    NC_000019.10:g.41387596C>Tvariant
    SNP
    • missense variant
    NC_000019.10:g.41392904T>Cvariant
    SNP
    • synonymous variant
    NC_000019.10:g.41392962G>Avariant
    SNP
    • missense variant
    NC_000019.10:g.41389806C>Avariant
    SNP
    • missense variant
    NC_000019.10:g.41386677G>Avariant
    SNP
    • missense variant
    NC_000019.10:g.41387574C>Gvariant
    SNP
    • synonymous variant
    NC_000019.10:g.41391846C>Gvariant
    SNP
    • missense variant
    NC_000019.10:g.41391914G>Avariant
    SNP
    • missense variant
    Showing 1 - 10 of 31 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    Species
    (carrying the transgene)
    Allele symbol
    Transgenic construct
    Expressed components
    Knock-down targets
    Regulatory regions
    Has Disease Annotations
    Has Phenotype Annotations
    Drosophila melanogasterHsap\EXOSC5UAS.Tag:HA
    PBac{UAS-hEXOSC5.HA}
    • UASt
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    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Transcript: Mode:

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    172 interactor genes based on 298 annotations
    EXOSC5 molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		ACOT11Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		ADAMTSL4Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		AICDAHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:21255825
    protein
    		AICDAHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:21255825
    protein
    		BIRC2Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		BIRC2Homo sapiens
    protein
    • two hybrid
    		PMID:25416956
    protein
    		BORCS6Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		C1DHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:26496610
    protein
    		C1DHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:24981860
    protein
    		C1DHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:33961781
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    Genetic Interactions

    EXOSC5 role
    EXOSC5 genetic perturbation
    Interactor gene
    Interactor species
    Interactor role
    Interactor genetic perturbation
    Interaction type
    Phenotype or trait
    Source
    Reference
    unspecified role
    		EGFRHomo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:34373451
    unspecified role
    		HAPSTR1Homo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:33660365
    unspecified role
    		KRASHomo sapiens
    unspecified role
    negative genetic interaction (sensu BioGRID)
    • Growth abnormality, viability
    		PMID:34373451
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