Human Gene ATP6V0D1 (ENST00000290949.8) from GENCODE V44
Description: Homo sapiens ATPase H+ transporting V0 subunit d1 (ATP6V0D1), mRNA. (from RefSeq NM_004691) RefSeq Summary (NM_004691): 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000290949.8 Gencode Gene: ENSG00000159720.13 Transcript (Including UTRs) Position: hg38 chr16:67,438,019-67,481,157 Size: 43,139 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr16:67,438,528-67,481,086 Size: 42,559 Coding Exon Count: 8
ID:VA0D1_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase subunit d 1; Short=V-ATPase subunit d 1; AltName: Full=32 kDa accessory protein; AltName: Full=V-ATPase 40 kDa accessory protein; AltName: Full=V-ATPase AC39 subunit; Short=p39; AltName: Full=Vacuolar proton pump subunit d 1; FUNCTION: Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). 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). TISSUE SPECIFICITY: Ubiquitous. SIMILARITY: Belongs to the V-ATPase V0D/AC39 subunit family. SEQUENCE CAUTION: Sequence=CAA50591.1; Type=Frameshift; Positions=22, 25, 64, 66;
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: PF01992 - ATP synthase (C/AC39) subunit
ModBase Predicted Comparative 3D Structure on P61421
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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:0006879 cellular iron ion homeostasis GO:0007034 vacuolar transport GO:0007035 vacuolar acidification GO:0007420 brain development GO:0008286 insulin receptor signaling pathway GO:0015991 ATP hydrolysis coupled proton transport GO:0016241 regulation of macroautophagy GO:0030030 cell projection organization GO:0033572 transferrin transport GO:0034220 ion transmembrane transport GO:0036295 cellular response to increased oxygen levels GO:0036498 IRE1-mediated unfolded protein response GO:0060271 cilium assembly GO:1902600 hydrogen ion transmembrane transport
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