ATP6AP1
ATPase H+ Transporting Accessory Protein 1
Gene Information Card
| Symbol | ATP6AP1 |
|---|---|
| Full Name | ATPase H+ Transporting Accessory Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 537 ncbi.nlm.nih.gov/gene/537 |
| Ensembl ID | ENSG00000100023 |
| UniProt ID | Q15904 |
| OMIM ID | 300197 |
| HGNC ID | 868 |
| Aliases | ATP6IP1, VMA21, 16A, Ac45 |
Description
ATP6AP1 encodes a subunit of the vacuolar ATPase (V-ATPase) complex, which is essential for acidification of intracellular organelles such as lysosomes and endosomes. This accessory protein is required for V-ATPase assembly and proton transport activity. Mutations in ATP6AP1 cause X-linked immunodeficiency with hypogammaglobulinemia and impaired glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked immunodeficiency with hypogammaglobulinemia and impaired glycosylation | Loss-of-function mutations impair V-ATPase assembly, leading to defective lysosomal acidification and abnormal glycosylation | PMID: 25728773 |
| Immunodeficiency 47 | Same mechanism as above; associated with recurrent infections and hypogammaglobulinemia | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Brain | 8.2 | Low |
| Heart | 7.1 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 11.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; start codon loss |
| c.430G>A (p.Gly144Arg) | Missense | Rare | Loss of function; impaired V-ATPase assembly |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to reduced V-ATPase activity and lysosomal dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; X-linked recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • proton transmembrane transport | • vacuolar proton-transporting V-type ATPase complex assembly |
| • lysosomal acidification | • ATP hydrolysis coupled proton transport |
Pathways
• V-ATPase mediated acidification
• Lysosome
• Metabolic pathways
Protein Summary
ATP6AP1 (Ac45) is a 470-amino acid accessory subunit of the V-ATPase complex. It is localized to the membrane of intracellular vesicles and is critical for proton pumping. The protein contains a single transmembrane domain and interacts with the V0 domain of V-ATPase. Defects in ATP6AP1 disrupt organelle acidification, leading to impaired protein glycosylation and immune dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6AP1 Knockout HEK293 Cell Line | EDJ-KQ50146 | Human | 537 | Details Get a Quote |
| ATP6AP1 Knockout HeLa Cell Line | EDJ-KQ52696 | Human | 537 | Details Get a Quote |
| ATP6AP1 Knockout A-549 Cell Line | EDJ-KQ61167 | Human | 537 | Details Get a Quote |
| ATP6AP1 Knockout HCT 116 Cell Line | EDJ-KQ69655 | Human | 537 | Details Get a Quote |
