ID:VPP2_HUMAN DESCRIPTION: RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 2; Short=V-ATPase 116 kDa isoform a2; AltName: Full=Lysosomal H(+)-transporting ATPase V0 subunit a2; AltName: Full=TJ6; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2; FUNCTION: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. SUBUNIT: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition of endocytosis. INTERACTION: Q99418:CYTH2; NbExp=2; IntAct=EBI-988630, EBI-448974; SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles (By similarity). PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A) [MIM:219200]. An autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. DISEASE: Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. SIMILARITY: Belongs to the V-ATPase 116 kDa subunit family. CAUTION: The N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V0A2";
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: PF01496 - V-type ATPase 116kDa subunit family
SCOP Domains: 46966 - Spectrin repeat 63491 - BAG domain
ModBase Predicted Comparative 3D Structure on Q9Y487
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0015078 hydrogen ion transmembrane transporter activity GO:0046961 proton-transporting ATPase activity, rotational mechanism GO:0051117 ATPase binding
Biological Process: GO:0006811 ion transport GO:0006879 cellular iron ion homeostasis GO:0006955 immune response GO:0007035 vacuolar acidification GO:0008286 insulin receptor signaling pathway GO:0015986 ATP synthesis coupled proton transport GO:0015991 ATP hydrolysis coupled proton transport GO:0016241 regulation of macroautophagy GO:0033572 transferrin transport GO:0034220 ion transmembrane transport GO:0036295 cellular response to increased oxygen levels GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
