Entity Details

Primary name RUBIC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92622
EntryNameRUBIC_HUMAN
FullNameRun domain Beclin-1-interacting and cysteine-rich domain-containing protein
TaxID9606
Evidenceevidence at protein level
Length972
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesRUBCN

GO terms

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GOName
GO:0002376 immune system process
GO:0005654 nucleoplasm
GO:0005764 lysosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005829 cytosol
GO:0006897 endocytosis
GO:0006909 phagocytosis
GO:0006914 autophagy
GO:0010507 negative regulation of autophagy
GO:0043231 intracellular membrane-bounded organelle
GO:0043553 negative regulation of phosphatidylinositol 3-kinase activity
GO:0045806 negative regulation of endocytosis
GO:0071985 multivesicular body sorting pathway
GO:1901097 negative regulation of autophagosome maturation
GO:1901981 phosphatidylinositol phosphate binding

Subcellular Location

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Subcellular Location
Early endosome
Late endosome
Lysosome

Domains

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DomainNameCategoryType
IPR004012 RUN domainDomainDomain
IPR025258 Putative zinc-RING and/or ribbonDomainDomain
IPR037213 RUN domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615705 OMIMSpinocerebellar ataxia, autosomal recessive, 15 (SCAR15)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

26 interactions

InteractorPartnerSourcesPublicationsLink
RUBIC_HUMANUVRAG_HUMANBioGRID, IntAct, UniProt19270696 20562859 21062745 22493499 25533187 30686098 details
RUBIC_HUMANPK3C3_HUMANBioGRID, IntAct, UniProt19270696 20562859 21062745 24980960 25533187 30686098 details
RUBIC_HUMANREQU_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANNDK7_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANDRC4_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANFAM9B_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANTEANC_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANBRD1_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANENKD1_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANF161A_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANZN648_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANZN250_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANBYST_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANVEZF1_HUMANBioGRID, IntAct32296183 details
RUBIC_HUMANEXOC1_HUMANBioGRID21241894 details
RUBIC_HUMANANR11_HUMANBioGRID32296183 details
RUBIC_HUMANSMAD9_HUMANHPRD15231748 details
RUBIC_HUMANBECN1_HUMANBioGRID, IntAct, UniProt19270693 19270696 19372752 20562859 21062745 22493499 23954414 24034250 24980960 25594178 25891078 26496610 26876213 27621469 29587298 31373534 31696776 details
RUBIC_HUMANEGFR_HUMANBioGRID, IntAct24034250 25594178 29587298 details
RUBIC_HUMANPI3R4_HUMANBioGRID, UniProt19270696 21062745 details
RUBIC_HUMAN1433E_HUMANBioGRID19608861 details
RUBIC_HUMANEXOC8_HUMANBioGRID21241894 details
RUBIC_HUMANEXOC2_HUMANBioGRID21241894 details
RUBIC_HUMANNEMO_HUMANBioGRID28392573 details
RUBIC_HUMANMTOR_HUMANBioGRID25533187 details
RUBIC_HUMANBAKOR_HUMANBioGRID19270693 details