RUBCN wt Allele

Preferred Label : RUBCN wt Allele;

NCIt synonyms : RDTX; RUBICON; KIAA0226; SCAR15; Rubicon Autophagy Regulator wt Allele; RUNDATAXIN;

NCIt definition : Human RUBCN wild-type allele is located in the vicinity of 3q29 and is approximately 81 kb in length. This allele, which encodes Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, is involved in the modulation of endosome and autophagosome maturation. Mutation of the gene is associated with autosomal recessive spinocerebellar ataxia 15.;

NCI Metathesaurus CUI : CL1382997;

GenBank Accession Number : D86979;

Details

Origin ID

C170835;

UMLS CUI

C5401267;

OMIM relation
- Run domain- and cysteine-rich domain-containing beclin-1-interacting protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q29 [NCIt concept]
gene_is_element_in_pathway
- Autophagy Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Antimicrobial Effect [NCIt concept]
- Autophagy [NCIt concept]
- Endocytosis Inhibition [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Phagocytosis Inhibition [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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