Entity Details

Primary name TRI44_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96DX7
EntryNameTRI44_HUMAN
FullNameTripartite motif-containing protein 44
TaxID9606
Evidenceevidence at protein level
Length344
SequenceStatuscomplete
DateCreated2004-12-07
DateModified2021-06-02

Ontological Relatives

GenesTRIM44

GO terms

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GOName
GO:0001961 positive regulation of cytokine-mediated signaling pathway
GO:0002230 positive regulation of defense response to virus by host
GO:0005737 cytoplasm
GO:0008270 zinc ion binding
GO:0010468 regulation of gene expression
GO:0016567 protein ubiquitination
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050821 protein stabilization
GO:0061630 ubiquitin protein ligase activity
GO:0061944 negative regulation of protein K48-linked ubiquitination
GO:1901224 positive regulation of NIK/NF-kappaB signaling

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000315 B-box-type zinc fingerDomainDomain

Diseases

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Disease IDSourceNameDescription
617142 OMIMAniridia 3 (AN3)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.