SIL1 wt Allele

Preferred Label : SIL1 wt Allele;

NCIt synonyms : BAP; SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. cerevisiae) wt Allele; Marinesco-Sjogren Syndrome Gene; MSS; ULG5;

NCIt definition : Human SIL1 wild-type allele is located in the vicinity of 5q31 and is approximately 280 kb in length. This allele, which encodes nucleotide exchange factor SIL1 protein, plays a role in the modulation of protein folding. Mutation of the gene is associated with Marinesco-Sjogren syndrome.;

NCIt note : The SIL1 gene may be deleted in breast cancer. (Nature. 2010; 464: 999-1005.);

GenBank Accession Number : AK075177;

PubMed : 20393555;

Details

Origin ID

C89002;

UMLS CUI

C2982447;

Currated CISMeF NLP mapping
- Millisecond (qualifier value) [SNOMED CT concept]
- Multiple sclerosis [MedDRA Preferred Term]
- Multiple sclerosis, susceptibility to [OMIM Phenotype]
OMIM relation
- Sil1 nucleotide exchange factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q31 [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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