ATP6V1E1

Function

Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091).

Involvement in disease

Cutis laxa, autosomal recessive, 2C

ARCL2C

A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the V-ATPase E subunit family.

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).

Cellular localization

• Apical cell membrane
• Peripheral membrane protein
• Cytoplasmic vesicle
• Secretory vesicle
• Synaptic vesicle membrane
• Peripheral membrane protein
• Cytoplasmic vesicle
• Clathrin-coated vesicle membrane
• Peripheral membrane protein

Alternative names

ATP6E, ATP6E2, ATP6V1E1, V-type proton ATPase subunit E 1, V-ATPase subunit E 1, V-ATPase 31 kDa subunit, Vacuolar proton pump subunit E 1, p31

Database links

swissprot:P36543 entrezGene:8992 entrezGene:529 swissprot:O15342 omim:108746