Description: Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 1, mRNA. RefSeq Summary (NM_015941): This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. Transcript (Including UTRs) Position: hg19 chr8:54,628,103-54,755,871 Size: 127,769 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr8:54,628,524-54,754,250 Size: 125,727 Coding Exon Count: 13
ID:VATH_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase subunit H; Short=V-ATPase subunit H; AltName: Full=Nef-binding protein 1; Short=NBP1; AltName: Full=Protein VMA13 homolog; AltName: Full=V-ATPase 50/57 kDa subunits; AltName: Full=Vacuolar proton pump subunit H; AltName: Full=Vacuolar proton pump subunit SFD; FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. 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 (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes. 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 HIV-1 Nef protein and AP2M1. TISSUE SPECIFICITY: Widely expressed. SIMILARITY: Belongs to the V-ATPase H 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.
ModBase Predicted Comparative 3D Structure on Q9UI12
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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.
Protein Q9UI12 (Reactome details) participates in the following event(s):
R-HSA-167537 Formation of CD4:Nef:AP-2 Complex:v-ATPase Complex R-HSA-182186 Formation of CD8:Nef:AP-2 Complex:v-ATPase Complex R-HSA-167597 Internalization of the CD4:Nef:AP-2 Complex:v-ATPase Complex R-HSA-182198 Internalization of the CD8:Nef:AP-2 Complex:v-ATPase Complex R-HSA-5252133 ATP6AP1 binds V-ATPase R-HSA-1222516 Intraphagosomal pH is lowered to 5 by V-ATPase R-HSA-74723 Endosome acidification R-HSA-917841 Acidification of Tf:TfR1 containing endosome R-HSA-167590 Nef Mediated CD4 Down-regulation R-HSA-182218 Nef Mediated CD8 Down-regulation R-HSA-164938 Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters R-HSA-164952 The role of Nef in HIV-1 replication and disease pathogenesis R-HSA-77387 Insulin receptor recycling R-HSA-917977 Transferrin endocytosis and recycling R-HSA-983712 Ion channel transport R-HSA-162909 Host Interactions of HIV factors R-HSA-74752 Signaling by Insulin receptor R-HSA-917937 Iron uptake and transport R-HSA-382551 Transport of small molecules R-HSA-1222556 ROS, RNS production in phagocytes R-HSA-162906 HIV Infection R-HSA-9006934 Signaling by Receptor Tyrosine Kinases R-HSA-168249 Innate Immune System R-HSA-5663205 Infectious disease R-HSA-162582 Signal Transduction R-HSA-168256 Immune System R-HSA-1643685 Disease
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