ATPAF2: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''ATP synthase mitochondrial F1 complex assembly factor 2''' is an [[enzyme]] that in humans is encoded by the ''ATPAF2'' [[gene]].<ref name="pmid11410595">{{cite journal | vauthors = Wang ZG, White PS, Ackerman SH | title = Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria | journal = J Biol Chem | volume = 276 | issue = 33 | pages = 30773–8 |date=Aug 2001 | pmid = 11410595 | pmc =  | doi = 10.1074/jbc.M104133200 }}</ref><ref name="pmid11997338">{{cite journal | vauthors = Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR | title = Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse | journal = Genome Res | volume = 12 | issue = 5 | pages = 713–28 |date=May 2002 | pmid = 11997338 | pmc = 186594 | doi = 10.1101/gr.73702 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=91647| accessdate = }}</ref>
'''ATP synthase mitochondrial F1 complex assembly factor 2''' is an [[enzyme]] that in humans is encoded by the ''ATPAF2'' [[gene]].<ref name="pmid11410595">{{cite journal | vauthors = Wang ZG, White PS, Ackerman SH | title = Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria | journal = The Journal of Biological Chemistry | volume = 276 | issue = 33 | pages = 30773–8 | date = August 2001 | pmid = 11410595 | pmc =  | doi = 10.1074/jbc.M104133200 }}</ref><ref name="pmid11997338">{{cite journal | vauthors = Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR | title = Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse | journal = Genome Research | volume = 12 | issue = 5 | pages = 713–28 | date = May 2002 | pmid = 11997338 | pmc = 186594 | doi = 10.1101/gr.73702 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=91647| access-date = }}{{PD-notice}}</ref>
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{{PBB_Summary
| section_title =
| summary_text = This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined.<ref name="entrez" />
}}


==Model organisms==
This gene encodes an assembly factor for the F(1) component of the [[mitochondrion|mitochondrial]] [[ATP synthase]]. This protein binds specifically to the F1 alpha [[protein subunit|subunit]] and is thought to prevent the subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the [[Smith-Magenis syndrome]] region on chromosome 17. An [[Alternative splicing|alternatively spliced]] [[Primary transcript|transcript]] variant has been described, but its biological validity has not been determined.<ref name="entrez" /> A [[mutation]] in this gene has caused nuclear type 1 [[Electron_transport_chain#In_mitochondria|Complex V]] deficiency, characterized by [[lactic acidosis]], [[encephalopathy]], and [[Global developmental delay|developmental delays]].<ref name=":0">{{cite journal | vauthors = De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R | title = Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 | journal = Journal of Medical Genetics | volume = 41 | issue = 2 | pages = 120–4 | date = February 2004 | pmid = 14757859 | pmc = 1735674 | doi = 10.1136/jmg.2003.012047 | url = https://jmg.bmj.com/content/41/2/120 }}</ref><ref name=":1">Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {608918}: {08/17/2017}: . World Wide Web URL: https://omim.org/</ref>
 
== Structure ==
The ''ATPAF2'' gene is located on the p arm of [[chromosome 17]] in position 11.2 and spans 24,110 base pairs.<ref name = "entrez"/> The gene produces a 32.8 kDa protein composed of 289 [[amino acids]].<ref name=COPaKB>{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | display-authors = 6 | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = https://amino.heartproteome.org/web/protein/Q8N5M1 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = ATPAF2 - ATP synthase mitochondrial F1 complex assembly factor 2 }}</ref> This gene has at least 8 [[exon|exons]] and is located within the Smith-Magenis syndrome region on chromosome 17.<ref name="entrez" />
 
== Function ==
The ''ATPAF2'' gene encodes an essential [[Housekeeping gene|housekeeping protein]], an assembly factor for the F1 component of mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly.<ref name="pmid11410595" /><ref name="entrez" />
 
== Clinical Significance ==
In the only report of a mutation in the ''ATPAF2'' gene, the resulting phenotype was nuclear type 1 Complex V deficiency inherited in an [[Genetic_disorder#Autosomal_recessive|autosomal recessive]] manner. A [[Zygosity#Homozygous|homozygous]] 280T-A [[transversion]] caused a W94R [[Amino acid replacement|amino acid substitution]] adjacent to a [[Conserved sequence|highly conserved]] [[glutamine]]. Symptoms included elevated blood, CSF, and urine lactate levels, developmental delays with failure to thrive and [[Seizure_(disambiguation)|seizures]], and a degenerative encephalopathy with [[Cerebral_cortex|cortical]] and [[Cerebral_cortex#Connections|subcortical]] [[Cerebral_atrophy|atrophy]].<ref name=":0" /><ref name=":1" />
 
== Interactions ==
The encoded protein [[protein-protein interactions|interacts]] with [[ATP synthase, H+ transporting, mitochondrial F1 complex, alpha 1|ATP5F1A]] and [[FMC1]], along with many other proteins.<ref name="pmid11410595" /><ref>{{cite journal | vauthors = Li Y, Jourdain AA, Calvo SE, Liu JS, Mootha VK | title = CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets | journal = PLoS Computational Biology | volume = 13 | issue = 7 | pages = e1005653 | date = July 2017 | pmid = 28719601 | pmc = 5546725 | doi = 10.1371/journal.pcbi.1005653 }}</ref><ref name=":3">{{cite journal | vauthors =  | title = UniProt: the universal protein knowledgebase | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D158-D169 | date = January 2017 | pmid = 27899622 | pmc = 5210571 | doi = 10.1093/nar/gkw1099 | url = https://doi.org/10.1093/nar/gkw1099 }}</ref>
 
== Model organisms ==
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Atpaf2'' knockout mouse phenotype
|+ ''Atpaf2'' knockout mouse phenotype
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| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages =  925–7 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages =  925–7 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
|}
[[Model organism]]s have been used in the study of ATPAF2 function. A conditional [[knockout mouse]] line, called ''Atpaf2<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Atpaf2 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362266 |title=Mouse Genome Informatics}}</ref> was generated as part of the [[International Knockout Mouse Consortium]] program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.<ref name="pmid21677750">{{Cite journal
[[Model organism]]s have been used in the study of ATPAF2 function. A conditional [[knockout mouse]] line, called ''Atpaf2<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Atpaf2 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362266 |title=Mouse Genome Informatics}}</ref> was generated as part of the [[International Knockout Mouse Consortium]] program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = June 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = June 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = January 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref>
| last1 = Skarnes |first1 =W. C.
| doi = 10.1038/nature10163
| last2 = Rosen | first2 = B.
| last3 = West | first3 = A. P.
| last4 = Koutsourakis | first4 = M.
| last5 = Bushell | first5 = W.
| last6 = Iyer | first6 = V.
| last7 = Mujica | first7 = A. O.
| last8 = Thomas | first8 = M.
| last9 = Harrow | first9 = J.
| last10 = Cox | first10 = T.
| last11 = Jackson | first11 = D.
| last12 = Severin | first12 = J.
| last13 = Biggs | first13 = P.
| last14 = Fu | first14 = J.
| last15 = Nefedov | first15 = M.
| last16 = De Jong | first16 = P. J.
| last17 = Stewart | first17 = A. F.
| last18 = Bradley | first18 = A.
| title = A conditional knockout resource for the genome-wide study of mouse gene function  
| journal = Nature  
| volume = 474  
| issue = 7351  
| pages = 337–342
| year = 2011  
| pmid = 21677750  
| pmc =3572410  
}}</ref><ref name="mouse_library">{{cite journal | doi = 10.1038/474262a | title = Mouse library set to be knockout | year = 2011 | author = Dolgin E | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | pmid = 21677718 }}</ref><ref name="mouse_for_all_reasons">{{cite journal | doi = 10.1016/j.cell.2006.12.018 | title = A Mouse for All Reasons | year = 2007 | journal = Cell | volume = 128 | pages = 9–13 | pmid = 17218247 |vauthors=Collins FS, Rossant J, Wurst W| issue = 1 }}</ref>


Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal| vauthors=van der Weyden L, White JK, Adams DJ, Logan DW| title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837}}</ref> Twenty six tests were carried out on [[mutant]] mice and three significant abnormalities were observed.<ref name="mgp_reference" /> No [[homozygous]] [[mutant]] embryos were identified during gestation, and therefore none survived until [[weaning]]. The remaining tests were carried out on [[heterozygous]] mutant adult mice; males had abnormal [[vertebrae]] morphology.<ref name="mgp_reference" />
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | date = June 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}</ref> Twenty six tests were carried out on [[mutant]] mice and three significant abnormalities were observed.<ref name="mgp_reference" /> No [[homozygous]] [[mutant]] embryos were identified during gestation, and therefore none survived until [[weaning]]. The remaining tests were carried out on [[heterozygous]] mutant adult mice; males had abnormal [[vertebrae]] morphology.<ref name="mgp_reference" />


==References==
== References ==
{{reflist}}
{{reflist}}


==External links==
* {{UCSC gene info|ATPAF2}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Analytical Biochemistry | volume = 236 | issue = 1 | pages = 107–13 | date = April 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
| citations =
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Research | volume = 7 | issue = 4 | pages = 353–8 | date = April 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
*{{cite journal | vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
* {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–95 | date = November 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
*{{cite journal | vauthors=Yu W, Andersson B, Worley KC |title=Large-scale concatenation cDNA sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi= 10.1101/gr.7.4.353| pmc=139146  |display-authors=etal}}
* {{cite journal | vauthors = De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R | title = Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 | journal = Journal of Medical Genetics | volume = 41 | issue = 2 | pages = 120–4 | date = February 2004 | pmid = 14757859 | pmc = 1735674 | doi = 10.1136/jmg.2003.012047 }}
*{{cite journal | vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
* {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | title = From ORFeome to biology: a functional genomics pipeline | journal = Genome Research | volume = 14 | issue = 10B | pages = 2136–44 | date = October 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |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  | pmc=139241 |display-authors=etal}}
* {{cite journal | vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S | title = The LIFEdb database in 2006 | journal = Nucleic Acids Research | volume = 34 | issue = Database issue | pages = D415-8 | date = January 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
*{{cite journal | vauthors=De Meirleir L, Seneca S, Lissens W |title=Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 |journal=J. Med. Genet. |volume=41 |issue= 2 |pages= 120–4 |year= 2004 |pmid= 14757859 |doi=10.1136/jmg.2003.012047 | pmc=1735674  |display-authors=etal}}
*{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 |display-authors=etal}}
*{{cite journal  | vauthors=Wiemann S, Arlt D, Huber W |title=From ORFeome to biology: a functional genomics pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 |display-authors=etal}}
*{{cite journal | vauthors=Mehrle A, Rosenfelder H, Schupp I |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 |display-authors=etal}}
}}
{{refend}}
{{refend}}


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== External links ==
{{PBB_Controls
* {{UCSC gene info|ATPAF2}}
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[[Category:Genes mutated in mice]]
[[Category:Genes mutated in mice]]


 
{{NLM content}}
{{gene-17-stub}}
{{Portal bar|Mitochondria|Gene Wiki}}

Latest revision as of 02:53, 15 August 2018

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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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View/Edit Human

ATP synthase mitochondrial F1 complex assembly factor 2 is an enzyme that in humans is encoded by the ATPAF2 gene.[1][2][3]

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent the subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined.[3] A mutation in this gene has caused nuclear type 1 Complex V deficiency, characterized by lactic acidosis, encephalopathy, and developmental delays.[4][5]

Structure

The ATPAF2 gene is located on the p arm of chromosome 17 in position 11.2 and spans 24,110 base pairs.[3] The gene produces a 32.8 kDa protein composed of 289 amino acids.[6][7] This gene has at least 8 exons and is located within the Smith-Magenis syndrome region on chromosome 17.[3]

Function

The ATPAF2 gene encodes an essential housekeeping protein, an assembly factor for the F1 component of mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly.[1][3]

Clinical Significance

In the only report of a mutation in the ATPAF2 gene, the resulting phenotype was nuclear type 1 Complex V deficiency inherited in an autosomal recessive manner. A homozygous 280T-A transversion caused a W94R amino acid substitution adjacent to a highly conserved glutamine. Symptoms included elevated blood, CSF, and urine lactate levels, developmental delays with failure to thrive and seizures, and a degenerative encephalopathy with cortical and subcortical atrophy.[4][5]

Interactions

The encoded protein interacts with ATP5F1A and FMC1, along with many other proteins.[1][8][9]

Model organisms

Model organisms have been used in the study of ATPAF2 function. A conditional knockout mouse line, called Atpaf2tm1a(KOMP)Wtsi[15][16] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[17][18][19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[13][20] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed.[13] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; males had abnormal vertebrae morphology.[13]

References

  1. ↑ 1.0 1.1 1.2 Wang ZG, White PS, Ackerman SH (August 2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria". The Journal of Biological Chemistry. 276 (33): 30773–8. doi:10.1074/jbc.M104133200. PMID 11410595.
  2. ↑ Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse". Genome Research. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 "Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2". This article incorporates text from this source, which is in the public domain.
  4. ↑ 4.0 4.1 De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R (February 2004). "Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12". Journal of Medical Genetics. 41 (2): 120–4. doi:10.1136/jmg.2003.012047. PMC 1735674. PMID 14757859.
  5. ↑ 5.0 5.1 Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {608918}: {08/17/2017}: . World Wide Web URL: https://omim.org/
  6. ↑ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  7. ↑ "ATPAF2 - ATP synthase mitochondrial F1 complex assembly factor 2". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  8. ↑ Li Y, Jourdain AA, Calvo SE, Liu JS, Mootha VK (July 2017). "CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets". PLoS Computational Biology. 13 (7): e1005653. doi:10.1371/journal.pcbi.1005653. PMC 5546725. PMID 28719601.
  9. ↑ "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
  10. ↑ "Radiography data for Atpaf2". Wellcome Trust Sanger Institute.
  11. ↑ "Salmonella infection data for Atpaf2". Wellcome Trust Sanger Institute.
  12. ↑ "Citrobacter infection data for Atpaf2". Wellcome Trust Sanger Institute.
  13. ↑ 13.0 13.1 13.2 13.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  14. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  15. ↑ "International Knockout Mouse Consortium".
  16. ↑ "Mouse Genome Informatics".
  17. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  18. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  19. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  20. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.


Further reading

External links

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

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