| Gene Information | |
|---|---|
| Gene Name | VPP2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 617 |
| Protein Names | V-type proton ATPase catalytic subunit A (V-ATPase subunit A) (EC 7.1.2.2) (V-ATPase 69 kDa subunit) (Vacuolar ATPase isoform VA68) (Vacuolar proton pump subunit alpha) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P38606 |
| Gene Card | ATP6V1A |
| Uniprot ID | P38606 |
| Pfam | PF00006; PF02874; PF16886 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | High expression in the skin. {ECO:0000269|PubMed:28065471}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.047777(Rat);0.282963(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 6WLZ (EM 2.90A ) 6WM2 (EM 3.10A ) 6WM3 (EM 3.40A ) 6WM4 (EM 3.60A ) 7U4T (EM 3.60A ) 7UNF (EM 4.08A ) |
| DBSNP | rs746407800 rs1553709380 rs1060505037 rs1553709855 rs1060505036 rs1553710664 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:29668857, ECO:0000269|PubMed:33208464}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:P50516}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:23035048}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:P31404}; Peripheral membrane protein {ECO:0000305}. Lysosome {ECO:0000250|UniProtKB:P50516}. Note=Co-localizes with WFS1 in the secretory granules in neuroblastoma cell lines. {ECO:0000269|PubMed:23035048}. |
| Mouse PG classification | NA |
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