Entity Details

Primary name ELP4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96EB1
EntryNameELP4_HUMAN
FullNameElongator complex protein 4
TaxID9606
Evidenceevidence at protein level
Length424
SequenceStatuscomplete
DateCreated2007-04-17
DateModified2021-04-07

Ontological Relatives

GenesELP4

GO terms

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GOName
GO:0002098 tRNA wobble uridine modification
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0008023 transcription elongation factor complex
GO:0008607 phosphorylase kinase regulator activity
GO:0033588 elongator holoenzyme complex

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR008728 Elongator complex protein 4FamilyFamily

Diseases

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Disease IDSourceNameDescription
617141 OMIMAniridia 2 (AN2)A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation is located in intron 9 of ELP4. The mutation does not alter normal ELP4 expression and function, but disrupts a long-range cis-regulatory element of PAX6 expression, known as SIMO. SIMO is contained within ELP4 intron 9 and located 150 kb downstream of PAX6.