RBCK1 wt Allele

Preferred Label : RBCK1 wt Allele;

NCIt synonyms : XAP3; XAP4; HOIL-1; PGBM1; RANBP2-Type and C3HC4-Type Zinc Finger Containing 1 wt Allele; ZRANB4; RBCK2; PBMEI; UBCE7IP3; HOIL1L; HOIL1; RanBP-Type and C3HC4-Type Zinc Finger Containing 1 Gene; C20orf18; Chromosome 20 Open Reading Frame 18 Gene;

NCIt definition : Human RBCK1 wild-type allele is located in the vicinity of 20p13 and is approximately 25 kb in length. This allele, which encodes RanBP-type and C3HC4-type zinc finger-containing protein 1, plays a role in polyubiquitination. Mutation of the gene is associated with polyglucosan body myopathy 1.;

NCI Metathesaurus CUI : CL1642542;

GenBank Accession Number : U67322;

Details

Origin ID

C176429;

UMLS CUI

C5444082;

Automatic exact mappings (from CISMeF team)
- Polyglucosan body myopathy 1 with or without immunodeficiency [OMIM Phenotype]
- Polyglucosan body myopathy type 1 [ORDO Disease]
- RANBP2-type and C3HC4-type zinc finger containing 1 [ORDO Gene]
- Ranbp-type and c3hc4-type zinc finger-containing 1 [OMIM gene]
OMIM relation
- Ranbp-type and c3hc4-type zinc finger-containing 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_is_element_in_pathway
- NOD-Like Receptor Signaling Pathway [NCIt concept]
- Shigellosis Pathway [NCIt concept]
gene_plays_role_in_process
- Polyubiquitination [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

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