Entity Details

Primary name VP13D_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5THJ4
EntryNameVP13D_HUMAN
FullNameVacuolar protein sorting-associated protein 13D
TaxID9606
Evidenceevidence at protein level
Length4388
SequenceStatuscomplete
DateCreated2006-11-28
DateModified2021-06-02

Ontological Relatives

GenesVPS13D

GO terms

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GOName
GO:0006623 protein targeting to vacuole
GO:0007005 mitochondrion organization
GO:0019898 extrinsic component of membrane
GO:0045053 protein retention in Golgi apparatus
GO:0070062 extracellular exosome
GO:1901526 positive regulation of mitophagy

Subcellular Location

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Domains

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DomainNameCategoryType
IPR009060 UBA-like superfamilyFamilyHomologous superfamily
IPR009543 Vacuolar protein sorting-associated protein 13, SHR-binding domainDomainDomain
IPR015940 Ubiquitin-associated domainDomainDomain
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
IPR041969 Vacuolar protein sorting-associated protein 13D, UBA domainDomainDomain

Diseases

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Disease IDSourceNameDescription
607317 OMIMSpinocerebellar ataxia, autosomal recessive 4 (SCAR4)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
VP13D_HUMANMADD_HUMANBioGRID, HPRD, IntAct12421765 details