Entity Details

Primary name VP13C_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ709C8
EntryNameVP13C_HUMAN
FullNameVacuolar protein sorting-associated protein 13C
TaxID9606
Evidenceevidence at protein level
Length3753
SequenceStatuscomplete
DateCreated2006-11-28
DateModified2021-06-02

Ontological Relatives

GenesVPS13C

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0006623 protein targeting to vacuole
GO:0006895 Golgi to endosome transport
GO:0007005 mitochondrion organization
GO:0019898 extrinsic component of membrane
GO:0032127 dense core granule membrane
GO:0032868 response to insulin
GO:0045053 protein retention in Golgi apparatus
GO:0070062 extracellular exosome
GO:1905090 negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization

Subcellular Location

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Subcellular Location
Mitochondrion outer membrane

Domains

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DomainNameCategoryType
IPR009543 Vacuolar protein sorting-associated protein 13, SHR-binding domainDomainDomain
IPR015412 Autophagy-related, C-terminalDomainDomain
IPR026847 Vacuolar protein sorting-associated protein 13FamilyFamily
IPR026854 Vacuolar protein sorting-associated protein 13-like, N-terminal domainDomainDomain
IPR031642 VPS13, repeated coiled regionDomainDomain
IPR031645 Vacuolar protein sorting-associated protein 13, C-terminalDomainDomain
IPR031646 Vacuolar protein sorting-associated protein 13, second N-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616840 OMIMParkinson disease 23, autosomal recessive, early onset (PARK23)An autosomal recessive, early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
VP13C_HUMANATG5_HUMANBioGRID33024031 details