Entity Details

Primary name RNF13_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43567
EntryNameRNF13_HUMAN
FullNameE3 ubiquitin-protein ligase RNF13
TaxID9606
Evidenceevidence at protein level
Length381
SequenceStatuscomplete
DateCreated2002-06-06
DateModified2021-06-02

Ontological Relatives

GenesRNF13

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0004842 ubiquitin-protein transferase activity
GO:0005637 nuclear inner membrane
GO:0005654 nucleoplasm
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0008432 JUN kinase binding
GO:0016021 integral component of membrane
GO:0031902 late endosome membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0046872 metal ion binding
GO:0051865 protein autoubiquitination
GO:0061630 ubiquitin protein ligase activity
GO:0070304 positive regulation of stress-activated protein kinase signaling cascade

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane
Late endosome membrane
Lysosome membrane
Nucleus inner membrane

Domains

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DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR003137 PA domainDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618379 OMIMDevelopmental and epileptic encephalopathy 73 (DEE73)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE73 is an autosomal dominant form with onset at birth. The disease is caused by variants affecting the gene represented in this entry.