Entity Details

Primary name AFF4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UHB7
EntryNameAFF4_HUMAN
FullNameAF4/FMR2 family member 4
TaxID9606
Evidenceevidence at protein level
Length1163
SequenceStatuscomplete
DateCreated2006-06-13
DateModified2021-06-02

Ontological Relatives

GenesAFF4

GO terms

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GOName
GO:0001650 fibrillar center
GO:0005654 nucleoplasm
GO:0006366 transcription by RNA polymerase II
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0007286 spermatid development
GO:0008023 transcription elongation factor complex
GO:0010468 regulation of gene expression
GO:0032783 super elongation complex
GO:0035327 transcriptionally active chromatin

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR007797 AF4/FMR2 familyFamilyFamily
IPR043639 AF4 interaction motifSiteConserved site
IPR043640 AF4/FMR2, C-terminal homology domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616368 OMIMCHOPS syndrome (CHOPS)A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. The disease is caused by variants affecting the gene represented in this entry.