ITCH wt Allele

Preferred Label : ITCH wt Allele;

NCIt synonyms : AIP4; Itchy E3 Ubiquitin Protein Ligase wt Allele; Itchy (Mouse Homolog) E3 Ubiquitin Protein Ligase Gene; AIF4; Itchy E3 Ubiquitin Protein Ligase Homolog (Mouse) Gene; NAPP1; Itchy E3 Ubiquitin Protein Ligase, Mouse, Homolog of Gene; ADMFD; Itchy E3 Ubiquitin Protein Ligase Homolog Gene;

NCIt definition : Human ITCH wild-type allele is located in the vicinity of 20q11.22 and is approximately 178 kb in length. This allele, which encodes E3 ubiquitin-protein ligase Itchy homolog protein, plays a role in the regulation of ubiquitinated protein degradation of inflammatory pathway proteins. Mutation of the gene is associated with multisystem autoimmune disease with facial dysmorphism (ADMFD).;

NCI Metathesaurus CUI : CL1642504;

GenBank Accession Number : AF095745;

Details

Origin ID

C176436;

UMLS CUI

C5444173;

Automatic exact mappings (from CISMeF team)
- Autoimmune disease, multisystem, with facial dysmorphism [OMIM Phenotype]
- Itchy e3 ubiquitin protein ligase [OMIM gene]
- itchy E3 ubiquitin protein ligase [ORDO Gene]
OMIM relation
- Itchy e3 ubiquitin protein ligase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q11.22 [NCIt concept]
gene_is_element_in_pathway
- Calcineurin-Dependent NFAT Signaling Pathway in Lymphocytes [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Immunologic Factor Process [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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