Entity Details

Primary name NHLC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6VVB1
EntryNameNHLC1_HUMAN
FullNameE3 ubiquitin-protein ligase NHLRC1
TaxID9606
Evidenceevidence at protein level
Length395
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesNHLRC1

GO terms

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GOName
GO:0000209 protein polyubiquitination
GO:0004842 ubiquitin-protein transferase activity
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0005978 glycogen biosynthetic process
GO:0006914 autophagy
GO:0010468 regulation of gene expression
GO:0031398 positive regulation of protein ubiquitination
GO:0034976 response to endoplasmic reticulum stress
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045859 regulation of protein kinase activity
GO:0046872 metal ion binding
GO:0048471 perinuclear region of cytoplasm
GO:0061630 ubiquitin protein ligase activity
GO:1903076 regulation of protein localization to plasma membrane

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Nucleus

Domains

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DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR011042 Six-bladed beta-propeller, TolB-likeFamilyHomologous superfamily
IPR013017 NHL repeat, subgroupRepeatRepeat
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR017907 Zinc finger, RING-type, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
254780 OMIMEpilepsy, progressive myoclonic 2 (EPM2)A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM2 is an autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum. The disease is caused by variants affecting the gene represented in this entry.