OTULIN wt Allele

Preferred Label : OTULIN wt Allele;

NCIt synonyms : FLJ34884; OTU Deubiquitinase With Linear Linkage Specificity wt Allele; AIPDS; FAM105B; GUM; Gumby Gene; Gumby, Mouse, Homolog of Gene; Family With Sequence Similarity 105, Member B Gene;

NCIt definition : Human OTULIN wild-type allele is located in the vicinity of 5p15.2 and is approximately 56 kb in length. This allele, which encodes ubiquitin thioesterase otulin protein, is involved in the modulation of inflammation and deubiquitination. Mutation of the gene is associated with autoinflammation, panniculitis and dermatosis syndrome (AIPDS).;

NCI Metathesaurus CUI : CL1642514;

GenBank Accession Number : NM_138348;

Details

Origin ID

C176455;

UMLS CUI

C5444202;

Automatic exact mappings (from CISMeF team)
- Autoinflammation, panniculitis, and dermatosis syndrome [OMIM Phenotype]
- GUM [ICD-O menu]
- OTU deubiquitinase with linear linkage specificity [ORDO Gene]
- Otu deubiquitinase with linear linkage specificity [OMIM gene]
- chewing gum [MeSH Descriptor]
OMIM relation
- Otu deubiquitinase with linear linkage specificity [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Negative Regulation of Inflammatory Response Process [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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