| Gene Information | |
|---|---|
| Gene Name | ATP6E2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 226 |
| Protein Names | V-type proton ATPase subunit E 1 (V-ATPase subunit E 1) (V-ATPase 31 kDa subunit) (p31) (Vacuolar proton pump subunit E 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P36543 |
| Gene Card | ATP6V1E1 |
| Uniprot ID | P36543 |
| Pfam | PF01991 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276). Ubiquitous (PubMed:12036578). High expression in the skin (PubMed:28065471). {ECO:0000269|PubMed:12036578, ECO:0000269|PubMed:28065471, ECO:0000269|PubMed:29993276}. |
| Pharmacological Animal Models | NULL(Chimpanzee);0.219991(Mouse);NULL(Rat);0.300927(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 | rs1060505031 rs1028534806 |
| Subcellular location [CC] | Apical cell membrane {ECO:0000269|PubMed:29993276}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q6PCU2}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:Q6PCU2}; Peripheral membrane protein {ECO:0000305}. |
| Mouse PG classification | NA |
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