Recombinant Human V-type proton ATPase subunit E 1 (ATP6V1E1)

Uniprot Id

P36543

Target Species

Human

Target Name

ATP6V1E1

Target Full Name

V-type proton ATPase subunit E 1

Target 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. 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.

Target Involvement

Cutis laxa, autosomal recessive, 2C (ARCL2C)

Target Subcellular Location

Apical cell membrane.

Target Protein Families

V-ATPase E subunit family

Target Tissue Specificity

Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level). Ubiquitous. High expression in the skin.

Target Synonyms

ATP6V1E1; ATP6E; ATP6E2; 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 Background

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome.