Human Gene ATP6V1E1 (ENST00000399796.6) from GENCODE V44
Description: Homo sapiens ATPase H+ transporting V1 subunit E1 (ATP6V1E1), transcript variant 3, mRNA. (from RefSeq NM_001039367) RefSeq Summary (NM_001039367): 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]. Gencode Transcript: ENST00000399796.6 Gencode Gene: ENSG00000131100.13 Transcript (Including UTRs) Position: hg38 chr22:17,592,169-17,628,747 Size: 36,579 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr22:17,592,674-17,628,635 Size: 35,962 Coding Exon Count: 8
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.
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.
Biological Process: GO:0006811 ion transport GO:0008286 insulin receptor signaling pathway GO:0015991 ATP hydrolysis coupled proton transport GO:0016241 regulation of macroautophagy GO:0033572 transferrin transport GO:0034220 ion transmembrane transport GO:1902600 hydrogen ion transmembrane transport
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