SNCAIP wt Allele

Preferred Label : SNCAIP wt Allele;

NCIt synonyms : Synuclein, Alpha Interacting Protein wt Allele; SYPH1; Sph1;

NCIt definition : Human SNCAIP wild-type allele is located in the vicinity of 5q23.2 and is approximately 153 kb in length. This allele, which encodes synphilin-1 protein, plays a role in the regulation of protein ubiquitination. Mutation of the gene may be associated with Parkinson disease.;

NCIt note : Tandem duplication of the SNCAIP gene is associated with subgroup 4 medulloblastoma. (Nature. 2012; 488:49-56.);

GenBank Accession Number : AF167306;

Détails

Origin ID

C102937;

UMLS CUI

C3540637;

Automatic exact mappings (from CISMeF team)
- Spherocytosis, type 1 [OMIM Phenotype]
- ankyrin 1 [ORDO Gene]
- hereditary spherocytosis type 1 [DO Concept]
- spherocytosis, type 1 [MeSH Supplementary Concept]
OMIM relation
- Synuclein-alpha-interacting protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q23.2 [NCIt concept]
gene_is_element_in_pathway
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Ubiquitin-Proteasomal Pathway [NCIt concept]
gene_plays_role_in_process
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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