Entity Details

Primary name RN170_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96K19
EntryNameRN170_HUMAN
FullNameE3 ubiquitin-protein ligase RNF170
TaxID9606
Evidenceevidence at protein level
Length258
SequenceStatuscomplete
DateCreated2007-03-20
DateModified2021-06-02

Ontological Relatives

GenesRNF170

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR010652 Domain of unknown function DUF1232DomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR017907 Zinc finger, RING-type, conserved siteSiteConserved site
IPR018957 Zinc finger, C3HC4 RING-typeDomainDomain
IPR038896 E3 ubiquitin-protein ligase RNF170FamilyFamily

Diseases

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Disease IDSourceNameDescription
608984 OMIMAtaxia, sensory, 1, autosomal dominant (SNAX1)A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). The disease is caused by variants affecting the gene represented in this entry.