ATP6V0A4 cdna clone
ATP6V0A4 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
Uniprot Description
ATP6V0A4: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. Defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR). RTADR is an autosomal recessive form of distal renal tubular acidosis (dRTA), a group of disorders characterized by functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Functional failure of alpha-intercalated cells results in metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bone physiology and growth. Belongs to the V-ATPase 116 kDa subunit family.
Protein type: Membrane protein, integral; Transporter, ion channel; Transporter; Energy Metabolism - oxidative phosphorylation; Transporter, iron; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 7q34
Cellular Component: apical part of cell; apical plasma membrane; brush border membrane; endosome; endosome membrane; lysosomal membrane; phagocytic vesicle membrane; plasma membrane; vacuolar proton-transporting V-type ATPase complex
Molecular Function: ATPase binding; hydrogen ion transporting ATPase activity, rotational mechanism; protein binding
Biological Process: ATP synthesis coupled proton transport; excretion; insulin receptor signaling pathway; ossification; proton transport; regulation of pH; sensory perception of sound; transferrin transport; vacuolar acidification
Disease: Renal Tubular Acidosis, Distal, Autosomal Recessive
Research Articles on ATP6V0A4
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Product Notes
The ATP6V0A4 atp6v0a4 (Catalog #AAA1268479) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGTGTCTG TGTTTCGAAG CGAGGAGATG TGTTTGTCAC AACTGTTTCT CCAGGTGGAA GCTGCATATT GCTGTGTGGC TGAGCTCGGA GAGCTCGGAT TGGTTCAGTT CAAAGATTTA AATATGAATG TGAACAGCTT TCAAAGGAAA TTTGTGAATG AAGTCAGAAG GTGTGAATCA CTGGAGAGAA TCCTCCGTTT TCTGGAAGAC GAGATGCAAA ATGAGATTGT AGTTCAGTTG CTCGAGAAAA GCCCACTGAC CCCGCTCCCA CGGGAAATGA TTACCCTGGA GACTGTTCTA GAAAAACTGG AAGGAGAGTT ACAGGAAGCC AACCAGAACC AGCAGGCCTT GAAACAAAGC TTCCTAGAAC TGACAGAACT GAAATACCTC CTGAAGAAAA CCCAAGACTT CTTTGAGACG GAAACCAATT TAGCTGATGA TTTCTTTACT GAGGACACTT CTGGCCTCCT GGAGTTGAAA GCAGTGCCTG CATATATGAC CGGAAAGTTG GGGTTCATAG CCGGTGTGAT CAACAGGGAG AGGATGGCTT CCTTTGAGCG GTTACTGTGG CGAATCTGCC GAGGAAACGT GTACTTGAAG TTCAGTGAGA TGGACGCCCC TCTGGAGGAT CCTGTGACGA AAGAAGAAAT TCAGAAGAAC ATATTCATCA TATTTTACCA AGGAGAGCAG CTCAGGCAGA AAATCAAGAA GATCTGTGAT GGGTTTCGAG CCACTGTCTA CCCTTGCCCA GAGCGTGCGG TGGAGCGCAG AGAGATGTTG GAGAGCGTCA ATGTGAGGCT GGAAGATTTA ATCACCGTCA TAACACAAAC AGAGTCTCAC CGCCAGCGCC TGCTGCAGGA AGCCGCTGCC AACTGGCACT CCTGGCTCAT CAAGGTGCAG AAGATGAAAG CTGTCTACCA CATCCTGAAC ATGTGCAACA TCGACGTCAC CCAGCAGTGT GTCATCGCCG AGATCTGGTT CCCGGTGGCA GATGCCACAC GTATCAAGAG GGCACTGGAG CAAGGCATGG AACTAAGTGG CTCCTCCATG GCCCCCATCA TGACCACAGT GCAATCTAAA ACAGCCCCTC CCACATTTAA CAGGACCAAT AAATTCACAG CTGGCTTCCA GAATATTGTT GATGCCTATG GTGTCGGCAG CTACCGGGAG ATAAACCCAG CCCCCTACAC CATCATCACT TTCCCCTTCC TGTTCGCTGT GATGTTTGGA GACTGTGGTC ATGGAACCGT GATGCTCCTG GCTGCACTTT GGATGATTCT GAATGAGAGA CGCTTGCTCT CCCAGAAGAC AGACAATGAG ATTTGGAACA CCTTCTTCCA CGGGCGCTAT CTGATCCTAC TTATGGGCAT CTTCTCCATC TACACGGGTT TGATCTACAA TGACTGCTTC TCCAAGTCCT TGAACATCTT TGGCTCTTCT TGGAGTGTCC AACCCATGTT CAGAAACGGC ACATGGAATA CTCATGTAAT GGAGGAAAGT CTATATCTGC AGCTGGACCC AGCCATACCA GGAGTGTATT TTGGAAATCC ATACCCGTTT GGGATTGATC CGATTTGGAA CTTGGCTTCA AACAAACTCA CATTTCTGAA CTCGTATAAA ATGAAGATGT CGGTGATCCT GGGAATTGTC CAGATGGTTT TCGGTGTCAT CCTCAGCCTT TTCAATCACA TATACTTCAG AAGAACTCTC AACATCATTC TGCAATTTAT CCCTGAGATG ATTTTTATCC TGTGTCTGTT TGGATACCTG GTTTTCATGA TCATTTTCAA ATGGTGCTGC TTTGACGTCC ACGTATCTCA GCACGCCCCC AGCATCCTCA TCCACTTCAT CAACATGTTT CTGTTTAACT ACAGTGACTC TTCCAACGCA CCCCTCTACA AACATCAGCA AGAAGTCCAA AGTTTCTTTG TGGTTATGGC TTTGATTTCT GTGCCGTGGA TGCTTCTGAT TAAGCCGTTT ATTCTTAGAG CCAGTCATCG GAAATCCCAG CTGCAGGCAT CCAGGATCCA AGAAGATGCC ACTGAGAACA TTGAAGGTGA TAGCTCCAGC CCTTCTAGCC GTTCTGGCCA GAGGACTTCT GCAGATACCC ACGGGGCTCT GGACGACCAT GGAGAAGAGT TCAACTTTGG AGACGTCTTT GTCCACCAAG CCATCCACAC CATCGAGTAC TGCCTGGGCT GCATTTCAAA CACAGCCTCC TACCTGCGGC TCTGGGCCCT CAGCCTGGCT CATGCACAAC TGTCTGAAGT GCTCTGGACT ATGGTGATGA ACAGCGGCCT TCAGACGCGA GGCTGGGGAG GAATCGTCGG GGTTTTTATT ATTTTTGCCG TATTTGCTGT CCTGACAGTA GCCATCCTTC TGATCATGGA GGGCCTCTCT GCTTTCCTGC ACGCCCTGCG ACTGCACTGG GTTGAGTTCC AGAACAAGTT CTATGTCGGG GATGGTTACA AGTTTTCTCC ATTCTCCTTT AAACACATCC TGGATGGCAC AGCCGAGGAG TAG. It is sometimes possible for the material contained within the vial of "ATP6V0A4, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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