Entity Details

Primary name I2BPL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H1B7
EntryNameI2BPL_HUMAN
FullNameProbable E3 ubiquitin-protein ligase IRF2BPL
TaxID9606
Evidenceevidence at protein level
Length796
SequenceStatuscomplete
DateCreated2003-08-29
DateModified2021-06-02

Ontological Relatives

GenesIRF2BPL

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003714 transcription corepressor activity
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007399 nervous system development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046543 development of secondary female sexual characteristics
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR022750 Interferon regulatory factor 2-binding protein 1 & 2, zinc fingerDomainDomain

Diseases

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Disease IDSourceNameDescription
618088 OMIMNeurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements. The disease is caused by variants affecting the gene represented in this entry.