Difference between revisions of "ATP6V1H"

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{{Infobox_gene}}
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'''V-type proton ATPase subunit H''' is an [[enzyme]] that in humans is encoded by the ''ATP6V1H'' [[gene]].<ref name="pmid9620685">{{cite journal | vauthors = Lu X, Yu H, Liu SH, Brodsky FM, Peterlin BM | title = Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4 | journal = Immunity | volume = 8 | issue = 5 | pages = 647–56 | date = May 1998 | pmid = 9620685 | pmc =  | doi = 10.1016/S1074-7613(00)80569-5 }}</ref><ref name="pmid10810093">{{cite journal | vauthors = Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W | title = Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics | journal = Genome Research | volume = 10 | issue = 5 | pages = 703–13 | date = May 2000 | pmid = 10810093 | pmc = 310876 | doi = 10.1101/gr.10.5.703 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51606| accessdate = }}</ref>
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== Function ==
{{GNF_Protein_box
 
| image =
 
| image_source =
 
| PDB =
 
| Name = ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
 
| HGNCid = 18303
 
| Symbol = ATP6V1H
 
| AltSymbols =; SFD; CGI-11; MSTP042; SFDalpha; SFDbeta; VMA13
 
| OMIM = 608861
 
| ECnumber = 
 
| Homologene = 7139
 
| MGIid = 1914864
 
| GeneAtlas_image1 = PBB_GE_ATP6V1H_221504_s_at_tn.png
 
| Function = {{GNF_GO|id=GO:0001671 |text = ATPase activator activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0030234 |text = enzyme regulator activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0046933 |text = hydrogen ion transporting ATP synthase activity, rotational mechanism}} {{GNF_GO|id=GO:0046961 |text = hydrogen ion transporting ATPase activity, rotational mechanism}}
 
| Component = {{GNF_GO|id=GO:0000221 |text = vacuolar proton-transporting V-type ATPase, V1 domain}} {{GNF_GO|id=GO:0000300 |text = peripheral to membrane of membrane fraction}}
 
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006897 |text = endocytosis}} {{GNF_GO|id=GO:0007035 |text = vacuolar acidification}} {{GNF_GO|id=GO:0015986 |text = ATP synthesis coupled proton transport}} {{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 = 51606
 
    | Hs_Ensembl = ENSG00000047249
 
    | Hs_RefseqProtein = NP_057025
 
    | Hs_RefseqmRNA = NM_015941
 
    | Hs_GenLoc_db = 
 
    | Hs_GenLoc_chr = 8
 
    | Hs_GenLoc_start = 54790669
 
    | Hs_GenLoc_end = 54918403
 
    | Hs_Uniprot = Q9UI12
 
    | Mm_EntrezGene = 108664
 
    | Mm_Ensembl = ENSMUSG00000033793
 
    | Mm_RefseqmRNA = NM_133826
 
    | Mm_RefseqProtein = NP_598587
 
    | Mm_GenLoc_db = 
 
    | Mm_GenLoc_chr = 1
 
    | Mm_GenLoc_start = 5073254
 
    | Mm_GenLoc_end = 5152630
 
    | Mm_Uniprot = Q3U9S9
 
  }}
 
}}
 
'''ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H''', also known as '''ATP6V1H''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51606| accessdate = }}</ref>
 
  
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This gene encodes a component of [[vacuolar]] [[ATPase]] (V-ATPase), a multisubunit enzyme that mediates acidification of [[eukaryotic]] intracellular [[organelle]]s. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit.<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 eukaryotic intracellular organelles. V-ATPase dependent organelle 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&quot;, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit.<ref name="entrez">{{cite web | title = Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51606| accessdate = }}</ref>
 
}}
 
  
==References==
+
== References ==
{{reflist|2}}
+
{{reflist}}
==Further reading==
+
 
 +
==External links==
 +
* {{UCSC gene info|ATP6V1H}}
 +
 
 +
== Further reading ==
 
{{refbegin | 2}}
 
{{refbegin | 2}}
{{PBB_Further_reading
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* {{cite journal | vauthors = Stevens TH, Forgac M | title = Structure, function and regulation of the vacuolar (H+)-ATPase | journal = Annual Review of Cell and Developmental Biology | volume = 13 | issue =  | pages = 779–808 | year = 1998 | pmid = 9442887 | doi = 10.1146/annurev.cellbio.13.1.779 }}
| citations =
+
* {{cite journal | vauthors = Geyer M, Fackler OT, Peterlin BM | title = Structure--function relationships in HIV-1 Nef | journal = EMBO Reports | volume = 2 | issue = 7 | pages = 580–5 | date = Jul 2001 | pmid = 11463741 | pmc = 1083955 | doi = 10.1093/embo-reports/kve141 }}
*{{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 = Nishi T, Forgac M | title = The vacuolar (H+)-ATPases--nature's most versatile proton pumps | journal = Nature Reviews Molecular Cell Biology | volume = 3 | issue = 2 | pages = 94–103 | date = Feb 2002 | pmid = 11836511 | doi = 10.1038/nrm729 }}
*{{cite journal | author=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580-5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 }}
+
* {{cite journal | vauthors = Pedersen PL | title = Transport ATPases in biological systems and relationship to human disease: a brief overview | journal = Journal of Bioenergetics and Biomembranes | volume = 34 | issue = 5 | pages = 327–32 | date = Oct 2002 | pmid = 12539959 | doi = 10.1023/A:1021249701287 }}
*{{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 = Kawasaki-Nishi S, Nishi T, Forgac M | title = Proton translocation driven by ATP hydrolysis in V-ATPases | journal = FEBS Letters | volume = 545 | issue = 1 | pages = 76–85 | date = Jun 2003 | pmid = 12788495 | doi = 10.1016/S0014-5793(03)00396-X }}
*{{cite journal | author=Pedersen PL |title=Transport ATPases in biological systems and relationship to human disease: a brief overview. |journal=J. Bioenerg. Biomembr. |volume=34 |issue= 5 |pages= 327-32 |year= 2003 |pmid= 12539959 |doi= }}
+
* {{cite journal | vauthors = Morel N | title = Neurotransmitter release: the dark side of the vacuolar-H+ATPase | journal = Biology of the Cell / Under the Auspices of the European Cell Biology Organization | volume = 95 | issue = 7 | pages = 453–7 | date = Oct 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 | vauthors = Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL | title = Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 17 | pages = 9543–8 | date = Aug 2000 | pmid = 10931946 | pmc = 16901 | doi = 10.1073/pnas.160270997 }}
*{{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 | vauthors = Mandic R, Fackler OT, Geyer M, Linnemann T, Zheng YH, Peterlin BM | title = Negative factor from SIV binds to the catalytic subunit of the V-ATPase to internalize CD4 and to increase viral infectivity | journal = Molecular Biology of the Cell | volume = 12 | issue = 2 | pages = 463–73 | date = Feb 2001 | pmid = 11179428 | pmc = 30956 | doi = 10.1091/mbc.12.2.463 }}
*{{cite journal  | author=Lu X, Yu H, Liu SH, ''et al.'' |title=Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4. |journal=Immunity |volume=8 |issue= 5 |pages= 647-56 |year= 1998 |pmid= 9620685 |doi=  }}
+
* {{cite journal | vauthors = Geyer M, Yu H, Mandic R, Linnemann T, Zheng YH, Fackler OT, Peterlin BM | title = Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 28521–9 | date = Aug 2002 | pmid = 12032142 | doi = 10.1074/jbc.M200522200 }}
*{{cite journal  | author=Lai CH, Chou CY, Ch'ang LY, ''et al.'' |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703-13 |year= 2000 |pmid= 10810093 |doi=  }}
+
* {{cite journal | vauthors = Geyer M, Fackler OT, Peterlin BM | title = Subunit H of the V-ATPase involved in endocytosis shows homology to beta-adaptins | journal = Molecular Biology of the Cell | volume = 13 | issue = 6 | pages = 2045–56 | date = Jun 2002 | pmid = 12058068 | pmc = 117623 | doi = 10.1091/mbc.02-02-0026 }}
*{{cite journal | author=Hu RM, Han ZG, Song HD, ''et al.'' |title=Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 17 |pages= 9543-8 |year= 2000 |pmid= 10931946 |doi= 10.1073/pnas.160270997 }}
+
* {{cite journal | vauthors = Lu M, Vergara S, Zhang L, Holliday LS, Aris J, Gluck SL | title = The amino-terminal domain of the E subunit of vacuolar H(+)-ATPase (V-ATPase) interacts with the H subunit and is required for V-ATPase function | journal = The Journal of Biological Chemistry | volume = 277 | issue = 41 | pages = 38409–15 | date = Oct 2002 | pmid = 12163484 | doi = 10.1074/jbc.M203521200 }}
*{{cite journal | author=Mandic R, Fackler OT, Geyer M, ''et al.'' |title=Negative factor from SIV binds to the catalytic subunit of the V-ATPase to internalize CD4 and to increase viral infectivity. |journal=Mol. Biol. Cell |volume=12 |issue= 2 |pages= 463-73 |year= 2001 |pmid= 11179428 |doi= }}
+
* {{cite journal | vauthors = Smith AN, Lovering RC, Futai M, Takeda J, Brown D, Karet FE | title = Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes | journal = Molecular Cell | volume = 12 | issue = 4 | pages = 801–3 | date = Oct 2003 | pmid = 14580332 | doi = 10.1016/S1097-2765(03)00397-6 }}
*{{cite journal | author=Geyer M, Yu H, Mandic R, ''et al.'' |title=Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 28521-9 |year= 2002 |pmid= 12032142 |doi= 10.1074/jbc.M200522200 }}
 
*{{cite journal | author=Geyer M, Fackler OT, Peterlin BM |title=Subunit H of the V-ATPase involved in endocytosis shows homology to beta-adaptins. |journal=Mol. Biol. Cell |volume=13 |issue= 6 |pages= 2045-56 |year= 2002 |pmid= 12058068 |doi= 02-02-0026 }}
 
*{{cite journal | author=Lu M, Vergara S, Zhang L, ''et al.'' |title=The amino-terminal domain of the E subunit of vacuolar H(+)-ATPase (V-ATPase) interacts with the H subunit and is required for V-ATPase function. |journal=J. Biol. Chem. |volume=277 |issue= 41 |pages= 38409-15 |year= 2002 |pmid= 12163484 |doi= 10.1074/jbc.M203521200 }}
 
*{{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  | 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= }}
 
}}
 
 
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Latest revision as of 18:28, 29 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.[1][2][3]

Function

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit.[3]

References

  1. Lu X, Yu H, Liu SH, Brodsky FM, Peterlin BM (May 1998). "Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4". Immunity. 8 (5): 647–56. doi:10.1016/S1074-7613(00)80569-5. PMID 9620685.
  2. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
  3. 3.0 3.1 "Entrez Gene: ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H".

External links

Further reading



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