AP3D1 wt Allele

Preferred Label : AP3D1 wt Allele;

NCIt synonyms : Mocha, Mouse, Homolog of Gene; hBLVR; Adaptor-Related Protein Complex 3, Delta-1 Subunit Gene; PRO0039; ADTD; Adaptin, Delta Gene; Garnet, Drosophila, Homolog of Gene; Adaptor Related Protein Complex 3 Subunit Delta 1 wt Allele; HPS10;

NCIt definition : Human AP3D1 wild-type allele is located in the vicinity of 19p13.3 and is approximately 63 kb in length. This allele, which encodes AP-3 complex subunit delta-1 protein, is involved in T- and NK-cell degranulation, intracellular trafficking and Golgi membrane vesicle budding. Mutation of the gene is associated with Hermansky-Pudlak syndrome 10.;

NCI Metathesaurus CUI : CL1642397;

GenBank Accession Number : U91930;

Details

Origin ID

C176497;

UMLS CUI

C5444085;

Automatic exact mappings (from CISMeF team)
- HPS 10 [MeSH Supplementary Concept]
- Hermansky-pudlak syndrome 10 [OMIM Phenotype]
- adaptor related protein complex 3 subunit delta 1 [ORDO Gene]
OMIM relation
- Adaptor-related protein complex 3, delta-1 subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Degranulation [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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