Entity Details

Primary name THOC6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86W42
EntryNameTHOC6_HUMAN
FullNameTHO complex subunit 6 homolog
TaxID9606
Evidenceevidence at protein level
Length341
SequenceStatuscomplete
DateCreated2006-05-02
DateModified2021-06-02

Ontological Relatives

GenesTHOC6

GO terms

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GOName
GO:0000346 transcription export complex
GO:0000347 THO complex
GO:0000445 THO complex part of transcription export complex
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0006915 apoptotic process
GO:0007417 central nervous system development
GO:0008380 RNA splicing
GO:0016604 nuclear body
GO:0016607 nuclear speck
GO:0031124 mRNA 3'-end processing
GO:0043066 negative regulation of apoptotic process
GO:0046784 viral mRNA export from host cell nucleus

Subcellular Location

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Subcellular Location
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR019775 WD40 repeat, conserved siteSiteConserved site
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR042626 THO complex subunit 6FamilyFamily

Diseases

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Disease IDSourceNameDescription
613680 OMIMBeaulieu-Boycott-Innes syndrome (BBIS)An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. The disease is caused by variants affecting the gene represented in this entry.