Entity Details

Primary name SNX14_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y5W7
EntryNameSNX14_HUMAN
FullNameSorting nexin-14
TaxID9606
Evidenceevidence at protein level
Length946
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesSNX14

GO terms

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GOName
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005829 cytosol
GO:0015031 protein transport
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0031902 late endosome membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding
GO:0097352 autophagosome maturation

Subcellular Location

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Subcellular Location
Cell projection
Late endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR001683 Phox homologyDomainDomain
IPR003114 Phox-associated domainDomainDomain
IPR013937 Sorting nexin, C-terminalDomainDomain
IPR016137 RGS domainDomainDomain
IPR036305 RGS domain superfamilyFamilyHomologous superfamily
IPR036871 PX domain superfamilyFamilyHomologous superfamily
IPR037436 Sorting nexin-14, PX domainDomainDomain
IPR037892 SNX14, RGS domainDomainDomain

Diseases

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Disease IDSourceNameDescription
616354 OMIMSpinocerebellar ataxia, autosomal recessive, 20 (SCAR20)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. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
SNX14_HUMANRASH_HUMANBioGRID30655611 details
SNX14_HUMANHNF1A_HUMANBioGRID18160415 details