ATP6AP1 wt Allele

Preferred Label : ATP6AP1 wt Allele;

NCIt synonyms : XAP-3; CF2; ATP6IP1; H-ATPase Subunit Gene; 16A; ATPase, H Transporting, Lysosomal (Vacuolar Proton Pump), Subunit 1 wt Allele; Ac45; ATPase H Transporting Accessory Protein 1 wt Allele; XAP3; XX-FW83563B9.4; ATP6S1; MGC129781; VATPS1; ATPase, H Transporting, Lysosomal Interacting Protein 1 Gene; ATPase, H Transporting, Lysosomal Accessory Protein 1 Gene;

NCIt definition : Human ATP6AP1 wild-type allele is located in the vicinity of Xq28 and is approximately 8 kb in length. This allele, which encodes V-type proton ATPase subunit S1 protein, is involved in vacuolar acidification.;

GenBank Accession Number : D16469;

Details

Origin ID

C106210;

UMLS CUI

C3715179;

Automatic exact mappings (from CISMeF team)
- Atpase, h+ transporting, lysosomal, accessory protein 1 [OMIM gene]
- Bovine pustular stomatitis virus infection [MedDRA Preferred Term]
- Orf [MedDRA Preferred Term]
- Orf virus disease (disorder) [SNOMED CT concept]
- Ranbp-type and c3hc4-type zinc finger-containing 1 [OMIM gene]
- contagious pustular dermatitis [DO Concept]
- ecthyma, contagious [MeSH Descriptor]
- open reading frame [COVID-19 Thesaurus concept]
False automatic mappings
- Orf [ICD-11 Category]
OMIM relation
- Atpase, h+ transporting, lysosomal, accessory protein 1 [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
- Xq28 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Granular Cell Tumor [NCIt concept]
gene_is_element_in_pathway
- Epithelial Cell Signaling Pathway in Helicobacter pylori Infection [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Oxidative Phosphorylation Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Vibrio cholerae Infection Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Proton Pump Interaction [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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