ATP6V0A4: Difference between revisions

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Latest revision as of 18:26, 29 August 2017

V-type proton ATPase 116 kDa subunit a isoform 4 is an enzyme that in humans is encoded by the ATP6V0A4 gene.^[1]^[2]^[3]

Function

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.^[3]

Interactions

ATP6V0A4 has been shown to interact with PFKM.^[4]

References

↑ Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP (Jan 2000). "Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34". Am. J. Hum. Genet. 65 (6): 1656–65. doi:10.1086/302679. PMC 1288376. PMID 10577919. Check date values in: |year= / |date= mismatch (help)
↑ Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (Oct 2000). "Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing". Nat. Genet. 26 (1): 71–5. doi:10.1038/79208. PMID 10973252.
↑ ^3.0 ^3.1 "Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4".
↑ Su Y, Zhou A, Al-Lamki RS, Karet FE (May 2003). "The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans". J. Biol. Chem. 278 (22): 20013–8. doi:10.1074/jbc.M210077200. PMID 12649290.

External links

Human ATP6V0A4 genome location and ATP6V0A4 gene details page in the UCSC Genome Browser.

Finbow ME, Harrison MA (1997). "The vacuolar H+-ATPase: a universal proton pump of eukaryotes". Biochem. J. 324 (3): 697–712. doi:10.1042/bj3240697. PMC 1218484. PMID 9210392.
Stevens TH, Forgac M (1997). "Structure, function and regulation of the vacuolar (H+)-ATPase". Annu. Rev. Cell Dev. Biol. 13: 779–808. doi:10.1146/annurev.cellbio.13.1.779. PMID 9442887.
Nelson N, Harvey WR (1999). "Vacuolar and plasma membrane proton-adenosinetriphosphatases". Physiol. Rev. 79 (2): 361–85. PMID 10221984.
Forgac M (1999). "Structure and properties of the vacuolar (H+)-ATPases". J. Biol. Chem. 274 (19): 12951–4. doi:10.1074/jbc.274.19.12951. PMID 10224039.
Kane PM (1999). "Introduction: V-ATPases 1992-1998". J. Bioenerg. Biomembr. 31 (1): 3–5. doi:10.1023/A:1001884227654. PMID 10340843.
Wieczorek H, Brown D, Grinstein S, Ehrenfeld J, Harvey WR (1999). "Animal plasma membrane energization by proton-motive V-ATPases". BioEssays. 21 (8): 637–48. doi:10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W. PMID 10440860.
Brown D, Breton S (2000). "H(+)V-ATPase-dependent luminal acidification in the kidney collecting duct and the epididymis/vas deferens: vesicle recycling and transcytotic pathways". J. Exp. Biol. 203 (Pt 1): 137–45. PMID 10600682.
Nishi T, Forgac M (2002). "The vacuolar (H+)-ATPases--nature's most versatile proton pumps". Nat. Rev. Mol. Cell Biol. 3 (2): 94–103. doi:10.1038/nrm729. PMID 11836511.
Kawasaki-Nishi S, Nishi T, Forgac M (2003). "Proton translocation driven by ATP hydrolysis in V-ATPases". FEBS Lett. 545 (1): 76–85. doi:10.1016/S0014-5793(03)00396-X. PMID 12788495.
Morel N (2003). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase". Biol. Cell. 95 (7): 453–7. doi:10.1016/S0248-4900(03)00075-3. PMID 14597263.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

[pmid10577919-1] Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP (Jan 2000). "Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34". Am. J. Hum. Genet. 65 (6): 1656–65. doi:10.1086/302679. PMC 1288376. PMID 10577919. Check date values in: |year= / |date= mismatch (help)

[pmid10973252-2] Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (Oct 2000). "Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing". Nat. Genet. 26 (1): 71–5. doi:10.1038/79208. PMID 10973252.

[entrez-3] 3.0 ^3.1 "Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4".

[pmid12649290-4] Su Y, Zhou A, Al-Lamki RS, Karet FE (May 2003). "The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans". J. Biol. Chem. 278 (22): 20013–8. doi:10.1074/jbc.M210077200. PMID 12649290.

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@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''V-type proton ATPase 116 kDa subunit a isoform 4''' is an [[enzyme]] that in humans is encoded by the ''ATP6V0A4'' [[gene]].<ref name="pmid10577919">{{cite journal | vauthors = Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP | title = Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 | journal = Am. J. Hum. Genet. | volume = 65 | issue = 6 | pages = 1656–65 | year = 1999 | date = Jan 2000 | pmid = 10577919 | pmc = 1288376 | doi = 10.1086/302679 }}</ref><ref name="pmid10973252">{{cite journal | vauthors = Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE | title = Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing | journal = Nat. Genet. | volume = 26 | issue = 1 | pages = 71–5  | date = Oct 2000 | pmid = 10973252 | pmc =  | doi = 10.1038/79208 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50617| accessdate = }}</ref>
-| update_page = yes
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-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+== Function ==
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = ATPase, H+ transporting, lysosomal V0 subunit a4
- | HGNCid = 866
- | Symbol = ATP6V0A4
- | AltSymbols =; VPP2; A4; ATP6N1B; ATP6N2; MGC130016; MGC130017; RDRTA2; RTA1C; RTADR; STV1; VPH1
- | OMIM = 605239
- | ECnumber =
- | Homologene = 39904
- | MGIid = 2153480
- | GeneAtlas_image1 = PBB_GE_ATP6V0A4_220197_at_tn.png
- | Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0015078 |text = hydrogen ion transmembrane transporter activity}}
- | Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0016324 |text = apical plasma membrane}} {{GNF_GO|id=GO:0016471 |text = vacuolar proton-transporting V-type ATPase complex}} {{GNF_GO|id=GO:0031526 |text = brush border membrane}}
- | Process = {{GNF_GO|id=GO:0001503 |text = ossification}} {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006885 |text = regulation of pH}} {{GNF_GO|id=GO:0007588 |text = excretion}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0015991 |text = ATP hydrolysis coupled proton transport}} {{GNF_GO|id=GO:0015992 |text = proton transport}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 50617
-    | Hs_Ensembl = ENSG00000105929
-    | Hs_RefseqProtein = NP_065683
-    | Hs_RefseqmRNA = NM_020632
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 7
-    | Hs_GenLoc_start = 138041580
-    | Hs_GenLoc_end = 138133466
-    | Hs_Uniprot = Q9HBG4
-    | Mm_EntrezGene = 140494
-    | Mm_Ensembl = ENSMUSG00000038600
-    | Mm_RefseqmRNA = NM_080467
-    | Mm_RefseqProtein = NP_536715
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 6
-    | Mm_GenLoc_start = 37978091
-    | Mm_GenLoc_end = 38054182
-    | Mm_Uniprot = Q3TN88
-  }}
-}}
-'''ATPase, H+ transporting, lysosomal V0 subunit a4''', also known as '''ATP6V0A4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50617| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+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<nowiki>''</nowiki>, 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.<ref name="entrez"/>
-{{PBB_Summary
-| section_title =
-| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50617| accessdate = }}</ref>
-}}
-==References==
+== Interactions ==
-{{reflist|2}}
-==Further reading==
+ATP6V0A4 has been shown to [[Protein-protein interaction|interact]] with [[PFKM]].<ref name=pmid12649290>{{cite journal | vauthors = Su Y, Zhou A, Al-Lamki RS, Karet FE | title = The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans | journal = J. Biol. Chem. | volume = 278 | issue = 22 | pages = 20013–8  | date = May 2003 | pmid = 12649290 | doi = 10.1074/jbc.M210077200 }}</ref>
+== References ==
+{{reflist}}
+==External links==
+* {{UCSC gene info|ATP6V0A4}}
+== Further reading ==
 {{refbegin | 2}}
-{{PBB_Further_reading
+* {{cite journal | vauthors = Finbow ME, Harrison MA | title = The vacuolar H+-ATPase: a universal proton pump of eukaryotes | journal = Biochem. J. | volume = 324 | issue = 3 | pages = 697–712 | year = 1997 | pmid = 9210392 | pmc = 1218484 | doi =  10.1042/bj3240697}}
-| citations =
+* {{cite journal | vauthors = Stevens TH, Forgac M | title = Structure, function and regulation of the vacuolar (H+)-ATPase | journal = Annu. Rev. Cell Dev. Biol. | volume = 13 | issue =  | pages = 779–808 | year = 1997 | pmid = 9442887 | doi = 10.1146/annurev.cellbio.13.1.779 }}
-*{{cite journal  | author=Finbow ME, Harrison MA |title=The vacuolar H+-ATPase: a universal proton pump of eukaryotes. |journal=Biochem. J. |volume=324 ( Pt 3) |issue=  |pages= 697-712 |year= 1997 |pmid= 9210392 |doi=  }}
+* {{cite journal | vauthors = Nelson N, Harvey WR | title = Vacuolar and plasma membrane proton-adenosinetriphosphatases | journal = Physiol. Rev. | volume = 79 | issue = 2 | pages = 361–85 | year = 1999 | pmid = 10221984 | doi =  }}
-*{{cite journal  | author=Stevens TH, Forgac M |title=Structure, function and regulation of the vacuolar (H+)-ATPase. |journal=Annu. Rev. Cell Dev. Biol. |volume=13 |issue=  |pages= 779-808 |year= 1998 |pmid= 9442887 |doi= 10.1146/annurev.cellbio.13.1.779 }}
+* {{cite journal | vauthors = Forgac M | title = Structure and properties of the vacuolar (H+)-ATPases | journal = J. Biol. Chem. | volume = 274 | issue = 19 | pages = 12951–4 | year = 1999 | pmid = 10224039 | doi = 10.1074/jbc.274.19.12951 }}
-*{{cite journal  | author=Nelson N, Harvey WR |title=Vacuolar and plasma membrane proton-adenosinetriphosphatases. |journal=Physiol. Rev. |volume=79 |issue= 2 |pages= 361-85 |year= 1999 |pmid= 10221984 |doi=  }}
+* {{cite journal | vauthors = Kane PM | title = Introduction: V-ATPases 1992-1998 | journal = J. Bioenerg. Biomembr. | volume = 31 | issue = 1 | pages = 3–5 | year = 1999 | pmid = 10340843 | doi = 10.1023/A:1001884227654 }}
-*{{cite journal  | author=Forgac M |title=Structure and properties of the vacuolar (H+)-ATPases. |journal=J. Biol. Chem. |volume=274 |issue= 19 |pages= 12951-4 |year= 1999 |pmid= 10224039 |doi=  }}
+* {{cite journal | vauthors = Wieczorek H, Brown D, Grinstein S, Ehrenfeld J, Harvey WR | title = Animal plasma membrane energization by proton-motive V-ATPases | journal = BioEssays | volume = 21 | issue = 8 | pages = 637–48 | year = 1999 | pmid = 10440860 | doi = 10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W }}
-*{{cite journal  | author=Kane PM |title=Introduction: V-ATPases 1992-1998. |journal=J. Bioenerg. Biomembr. |volume=31 |issue= 1 |pages= 3-5 |year= 1999 |pmid= 10340843 |doi=  }}
+* {{cite journal | vauthors = Brown D, Breton S | title = H(+)V-ATPase-dependent luminal acidification in the kidney collecting duct and the epididymis/vas deferens: vesicle recycling and transcytotic pathways | journal = J. Exp. Biol. | volume = 203 | issue = Pt 1 | pages = 137–45 | year = 2000 | pmid = 10600682 | doi =  }}
-*{{cite journal  | author=Wieczorek H, Brown D, Grinstein S, ''et al.'' |title=Animal plasma membrane energization by proton-motive V-ATPases. |journal=Bioessays |volume=21 |issue= 8 |pages= 637-48 |year= 1999 |pmid= 10440860 |doi= 10.1002/(SICI)1521-1878(199908)21:8<637::AID-BIES3>3.0.CO;2-W }}
+* {{cite journal | vauthors = Nishi T, Forgac M | title = The vacuolar (H+)-ATPases--nature's most versatile proton pumps | journal = Nat. Rev. Mol. Cell Biol. | volume = 3 | issue = 2 | pages = 94–103 | year = 2002 | pmid = 11836511 | doi = 10.1038/nrm729 }}
-*{{cite journal  | author=Brown D, Breton S |title=H(+)V-ATPase-dependent luminal acidification in the kidney collecting duct and the epididymis/vas deferens: vesicle recycling and transcytotic pathways. |journal=J. Exp. Biol. |volume=203 |issue= Pt 1 |pages= 137-45 |year= 2000 |pmid= 10600682 |doi=  }}
+* {{cite journal | vauthors = Kawasaki-Nishi S, Nishi T, Forgac M | title = Proton translocation driven by ATP hydrolysis in V-ATPases | journal = FEBS Lett. | volume = 545 | issue = 1 | pages = 76–85 | year = 2003 | pmid = 12788495 | doi = 10.1016/S0014-5793(03)00396-X }}
-*{{cite journal  | author=Nishi T, Forgac M |title=The vacuolar (H+)-ATPases--nature's most versatile proton pumps. |journal=Nat. Rev. Mol. Cell Biol. |volume=3 |issue= 2 |pages= 94-103 |year= 2002 |pmid= 11836511 |doi= 10.1038/nrm729 }}
+* {{cite journal | vauthors = Morel N | title = Neurotransmitter release: the dark side of the vacuolar-H+ATPase | journal = Biol. Cell | volume = 95 | issue = 7 | pages = 453–7 | year = 2003 | pmid = 14597263 | doi = 10.1016/S0248-4900(03)00075-3 }}
-*{{cite journal  | author=Kawasaki-Nishi S, Nishi T, Forgac M |title=Proton translocation driven by ATP hydrolysis in V-ATPases. |journal=FEBS Lett. |volume=545 |issue= 1 |pages= 76-85 |year= 2003 |pmid= 12788495 |doi=  }}
-*{{cite journal  | author=Morel N |title=Neurotransmitter release: the dark side of the vacuolar-H+ATPase. |journal=Biol. Cell |volume=95 |issue= 7 |pages= 453-7 |year= 2004 |pmid= 14597263 |doi=  }}
-*{{cite journal  | author=Karet FE, Finberg KE, Nayir A, ''et al.'' |title=Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. |journal=Am. J. Hum. Genet. |volume=65 |issue= 6 |pages= 1656-65 |year= 2000 |pmid= 10577919 |doi=  }}
-*{{cite journal  | author=Smith AN, Skaug J, Choate KA, ''et al.'' |title=Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 71-5 |year= 2000 |pmid= 10973252 |doi= 10.1038/79208 }}
-}}
 {{refend}}
-{{protein-stub}}
-{{WikiDoc Sources}}
+{{gene-7-stub}}

ATP6V0A4: Difference between revisions

Latest revision as of 18:26, 29 August 2017

Contents

Function

Interactions

References

External links

Further reading

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