Human Gene ATP6V1E1 (uc002zmr.1) Description and Page Index
Description: Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 1, mRNA. RefSeq Summary (NM_001696): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr22:18,074,903-18,111,588 Size: 36,686 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr22:18,075,440-18,111,401 Size: 35,962 Coding Exon Count: 9
ID:VATE1_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase subunit E 1; Short=V-ATPase subunit E 1; AltName: Full=V-ATPase 31 kDa subunit; Short=p31; AltName: Full=Vacuolar proton pump subunit E 1; FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Interacts with ALDOC. TISSUE SPECIFICITY: Ubiquitous. SIMILARITY: Belongs to the V-ATPase E subunit family.
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01991 - ATP synthase (E/31 kDa) subunit
ModBase Predicted Comparative 3D Structure on P36543
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.