Entity Details

Primary name UNC80_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N2C7
EntryNameUNC80_HUMAN
FullNameProtein unc-80 homolog
TaxID9606
Evidenceevidence at transcript level
Length3258
SequenceStatuscomplete
DateCreated2005-08-16
DateModified2021-06-02

Ontological Relatives

GenesUNC80

GO terms

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GOName
GO:0005261 cation channel activity
GO:0005886 plasma membrane
GO:0030424 axon
GO:0034220 ion transmembrane transport
GO:0034703 cation channel complex
GO:0055080 cation homeostasis

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR031542 Cation channel complex component UNC80, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
616801 OMIMHypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2)An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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