ATP6V0A2: Difference between revisions

VALUE_ERROR (nil)
Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

VisualWikitext

Latest revision as of 18:26, 29 August 2017

V-type proton ATPase 116 kDa subunit a isoform 2 also known as V-ATPase 116 kDa isoform a2 is an enzyme that in humans is encoded by the ATP6V0A2 gene.^[1]^[2]^[3]

Function

V-ATPase 116 kDa isoform a2 is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase consists of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain.^[3]

Clinical significance

Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.^[3]

References

↑ Lee C, Ghoshal K, Beaman KD (Jan 1991). "Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role". Mol Immunol. 27 (11): 1137–1144. doi:10.1016/0161-5890(90)90102-6. PMID 2247090.
↑ Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S (Dec 2007). "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nat Genet. 40 (1): 32–34. doi:10.1038/ng.2007.45. PMID 18157129.
↑ ^3.0 ^3.1 ^3.2 "Entrez Gene: ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2".

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 (2004). "Neurotransmitter release: the dark side of the vacuolar-H+ATPase". Biol. Cell. 95 (7): 453–457. doi:10.1016/S0248-4900(03)00075-3. PMID 14597263.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Smith AN, Lovering RC, Futai M, et al. (2003). "Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes". Mol. Cell. 12 (4): 801–803. doi:10.1016/S1097-2765(03)00397-6. PMID 14580332.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Derks R, Beaman K (2005). "Regeneration and tolerance factor modulates the effect of adenosine triphosphate-induced interleukin 1 beta secretion in human macrophages". Hum. Immunol. 65 (7): 676–682. doi:10.1016/j.humimm.2004.04.006. PMID 15301855.
Derks RA, Beaman KD (2005). "Regeneration and tolerance factor prevents bystander T-cell death associated with human immunodeficiency virus infection". Clin. Diagn. Lab. Immunol. 11 (5): 835–840. doi:10.1128/CDLI.11.5.835-840.2004. PMC 515283. PMID 15358640.
Lattuada D, Mangioni S, Viganò P, et al. (2005). "The placental immunomodulatory cytokine regeneration and tolerance factor is also expressed by both human cycling and early pregnant endometrium". Am. J. Reprod. Immunol. 52 (3): 224–231. doi:10.1111/j.1600-0897.2004.00210.x. PMID 15373763.
Hurtado-Lorenzo A, Skinner M, El Annan J, et al. (2006). "V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway". Nat. Cell Biol. 8 (2): 124–136. doi:10.1038/ncb1348. PMID 16415858.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
Ntrivalas E, Gilman-Sachs A, Kwak-Kim J, Beaman K (2007). "The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells". Am. J. Reprod. Immunol. 57 (3): 201–209. doi:10.1111/j.1600-0897.2006.00463.x. PMID 17295899.

External links

GeneReviews/NCBI/NIH/UW entry on ATP6V0A2-Related Autosomal Recessive Cutis Laxa
OMIM entries on ATP6V0A2-Related Autosomal Recessive Cutis Laxa
Human ATP6V0A2 genome location and ATP6V0A2 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[pmid2247090-1] Lee C, Ghoshal K, Beaman KD (Jan 1991). "Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role". Mol Immunol. 27 (11): 1137–1144. doi:10.1016/0161-5890(90)90102-6. PMID 2247090.

[pmid18157129-2] Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S (Dec 2007). "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nat Genet. 40 (1): 32–34. doi:10.1038/ng.2007.45. PMID 18157129.

[entrez-3] 3.0 ^3.1 ^3.2 "Entrez Gene: ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2".

[1]

[2]

[3]

@@ 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 2''' also known as '''V-ATPase 116 kDa isoform a2''' is an [[enzyme]] that in humans is encoded by the ''ATP6V0A2'' [[gene]].<ref name="pmid2247090">{{cite journal |vauthors=Lee C, Ghoshal K, Beaman KD | title = Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role | journal = Mol Immunol | volume = 27 | issue = 11 | pages = 1137–1144 |date=Jan 1991 | pmid = 2247090 | pmc =  | doi =10.1016/0161-5890(90)90102-6  }}</ref><ref name="pmid18157129">{{cite journal |vauthors=Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S | title = Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 | journal = Nat Genet | volume = 40 | issue = 1 | pages = 32–34 |date=Dec 2007 | pmid = 18157129 | pmc =  | doi = 10.1038/ng.2007.45 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23545| accessdate = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| 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 a2
- | HGNCid = 18481
- | Symbol = ATP6V0A2
- | AltSymbols =; Stv1; Vph1; ATP6N1D; ATP6a2; J6B7; TJ6; TJ6M; TJ6s; a2
- | OMIM =
- | ECnumber =
- | Homologene = 56523
- | MGIid = 104855
- | GeneAtlas_image1 = PBB_GE_ATP6V0A2_205704_s_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:0001669 |text = acrosome}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
- | Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0015992 |text = proton transport}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 23545
-    | Hs_Ensembl = ENSG00000185344
-    | Hs_RefseqProtein = NP_036595
-    | Hs_RefseqmRNA = NM_012463
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 12
-    | Hs_GenLoc_start = 122762818
-    | Hs_GenLoc_end = 122810394
-    | Hs_Uniprot = Q9Y487
-    | Mm_EntrezGene = 21871
-    | Mm_Ensembl = ENSMUSG00000038023
-    | Mm_RefseqmRNA = NM_011596
-    | Mm_RefseqProtein = NP_035726
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 5
-    | Mm_GenLoc_start = 124890266
-    | Mm_GenLoc_end = 125011627
-    | Mm_Uniprot = Q8VHU0
-  }}
-}}
-'''ATPase, H+ transporting, lysosomal V0 subunit a2''', also known as '''ATP6V0A2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23545| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+V-ATPase 116 kDa isoform a2 is a subunit of the [[vacuolar]] [[ATPase]] (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase consists of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain.<ref name="entrez"/>
-{{PBB_Summary
-| section_title =
+== Clinical significance ==
-| summary_text =
-}}
+Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.<ref name="entrez"/>
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{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 }}
-| citations =
+*{{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  | author=Morel N |title=Neurotransmitter release: the dark side of the vacuolar-H+ATPase |journal=Biol. Cell |volume=95 |issue= 7 |pages= 453–457 |year= 2004 |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=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
-*{{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=Smith AN |title=Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes |journal=Mol. Cell |volume=12 |issue= 4 |pages= 801–803 |year= 2003 |pmid= 14580332 |doi=10.1016/S1097-2765(03)00397-6  |name-list-format=vanc| author2=Lovering RC  | author3=Futai M  | display-authors=3  | last4=Takeda  | first4=Jun  | last5=Brown  | first5=Dennis  | last6=Karet  | first6=Fiona E  }}
-*{{cite journal  | author=Lee C, Ghoshal K, Beaman KD |title=Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role. |journal=Mol. Immunol. |volume=27 |issue= 11 |pages= 1137-44 |year= 1991 |pmid= 2247090 |doi=  }}
+*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  |vauthors=Derks R, Beaman K |title=Regeneration and tolerance factor modulates the effect of adenosine triphosphate-induced interleukin 1 beta secretion in human macrophages |journal=Hum. Immunol. |volume=65 |issue= 7 |pages= 676–682 |year= 2005 |pmid= 15301855 |doi= 10.1016/j.humimm.2004.04.006 }}
-*{{cite journal  | author=Smith AN, Lovering RC, Futai M, ''et al.'' |title=Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. |journal=Mol. Cell |volume=12 |issue= 4 |pages= 801-3 |year= 2003 |pmid= 14580332 |doi=  }}
+*{{cite journal  |vauthors=Derks RA, Beaman KD |title=Regeneration and tolerance factor prevents bystander T-cell death associated with human immunodeficiency virus infection |journal=Clin. Diagn. Lab. Immunol. |volume=11 |issue= 5 |pages= 835–840 |year= 2005 |pmid= 15358640 |doi= 10.1128/CDLI.11.5.835-840.2004  | pmc=515283 }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | author=Lattuada D |title=The placental immunomodulatory cytokine regeneration and tolerance factor is also expressed by both human cycling and early pregnant endometrium |journal=Am. J. Reprod. Immunol. |volume=52 |issue= 3 |pages= 224–231 |year= 2005 |pmid= 15373763 |doi= 10.1111/j.1600-0897.2004.00210.x  |name-list-format=vanc| author2=Mangioni S  | author3=Viganò P  | display-authors=3  | last4=Ntrivalas  | first4=Evangelos I.  | last5=Rossi  | first5=Margherita  | last6=Palotti  | first6=Francesco  | last7=Carinelli  | first7=Silvestro  | last8=Beaman  | first8=Kenneth D.  | last9=Di Blasio  | first9=Anna M. }}
-*{{cite journal  | author=Derks R, Beaman K |title=Regeneration and tolerance factor modulates the effect of adenosine triphosphate-induced interleukin 1 beta secretion in human macrophages. |journal=Hum. Immunol. |volume=65 |issue= 7 |pages= 676-82 |year= 2005 |pmid= 15301855 |doi= 10.1016/j.humimm.2004.04.006 }}
+*{{cite journal  | author=Hurtado-Lorenzo A |title=V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway |journal=Nat. Cell Biol. |volume=8 |issue= 2 |pages= 124–136 |year= 2006 |pmid= 16415858 |doi= 10.1038/ncb1348  |name-list-format=vanc| author2=Skinner M  | author3=El Annan J  | display-authors=3  | last4=Futai  | first4=Masamitsu  | last5=Sun-Wada  | first5=Ge-Hong  | last6=Bourgoin  | first6=Sylvain  | last7=Casanova  | first7=James  | last8=Wildeman  | first8=Alan  | last9=Bechoua  | first9=Shaliha }}
-*{{cite journal  | author=Derks RA, Beaman KD |title=Regeneration and tolerance factor prevents bystander T-cell death associated with human immunodeficiency virus infection. |journal=Clin. Diagn. Lab. Immunol. |volume=11 |issue= 5 |pages= 835-40 |year= 2005 |pmid= 15358640 |doi= 10.1128/CDLI.11.5.835-840.2004 }}
+*{{cite journal  | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–648 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026  |name-list-format=vanc| author2=Blagoev B  | author3=Gnad F  | display-authors=3  | last4=Macek  | first4=Boris  | last5=Kumar  | first5=Chanchal  | last6=Mortensen  | first6=Peter  | last7=Mann  | first7=Matthias }}
-*{{cite journal  | author=Lattuada D, Mangioni S, Viganò P, ''et al.'' |title=The placental immunomodulatory cytokine regeneration and tolerance factor is also expressed by both human cycling and early pregnant endometrium. |journal=Am. J. Reprod. Immunol. |volume=52 |issue= 3 |pages= 224-31 |year= 2005 |pmid= 15373763 |doi= 10.1111/j.1600-0897.2004.00210.x }}
+*{{cite journal  |vauthors=Ntrivalas E, Gilman-Sachs A, Kwak-Kim J, Beaman K |title=The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells |journal=Am. J. Reprod. Immunol. |volume=57 |issue= 3 |pages= 201–209 |year= 2007 |pmid= 17295899 |doi= 10.1111/j.1600-0897.2006.00463.x }}
-*{{cite journal  | author=Hurtado-Lorenzo A, Skinner M, El Annan J, ''et al.'' |title=V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. |journal=Nat. Cell Biol. |volume=8 |issue= 2 |pages= 124-36 |year= 2006 |pmid= 16415858 |doi= 10.1038/ncb1348 }}
-*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
-*{{cite journal  | author=Ntrivalas E, Gilman-Sachs A, Kwak-Kim J, Beaman K |title=The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells. |journal=Am. J. Reprod. Immunol. |volume=57 |issue= 3 |pages= 201-9 |year= 2007 |pmid= 17295899 |doi= 10.1111/j.1600-0897.2006.00463.x }}
-}}
 {{refend}}
-{{protein-stub}}
+==External links==
-{{WikiDoc Sources}}
+* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cutis-laxa  GeneReviews/NCBI/NIH/UW entry on ATP6V0A2-Related Autosomal Recessive Cutis Laxa]
+* [https://www.ncbi.nlm.nih.gov/omim/219100,278250,219200,123700,231070,219150,612940,613177,613075,219200,278250,611716,219200,278250,611716  OMIM entries on ATP6V0A2-Related Autosomal Recessive Cutis Laxa]
+* {{UCSC gene info|ATP6V0A2}}
+{{NLM content}}
+{{gene-12-stub}}

ATP6V0A2: Difference between revisions

Latest revision as of 18:26, 29 August 2017

Contents

Function

Clinical significance

References

Further reading

External links

Navigation menu