FNIP1: Difference between revisions
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| title = Entrez Gene: Folliculin interacting protein 1 | | title = Entrez Gene: Folliculin interacting protein 1 | ||
| url = https://www.ncbi.nlm.nih.gov/gene/96459 | | url = https://www.ncbi.nlm.nih.gov/gene/96459 | ||
| | | access-date = 2016-03-07 | ||
}}</ref> | }}</ref> | ||
Mutation of FNIP1 in mice causes a deficiency of B cells, and cardiomyopathy, with FNIP1 thought to act as a negative regulator of [[AMPK]].<ref name="pmid27303042">{{cite journal | vauthors = Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ | title = Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 113 | issue = 26 | pages = E3706-15 | date = June 2016 | pmid = 27303042 | pmc = 4932993 | doi = 10.1073/pnas.1607592113 }} </ref><ref name="pmid22709692">{{cite journal | vauthors = Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R | title = The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development | journal = Blood | volume = 120 | issue = 6 | pages = 1254–61 | date = August 2012 | pmid = 22709692 | pmc = 3418720 | doi = 10.1182/blood-2012-02-410407 }} </ref><ref name="pmid22608497">{{cite journal | vauthors = Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G, Iritani BM | title = Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development | journal = Immunity | volume = 36 | issue = 5 | pages = 769–81 | date = May 2012 | pmid = 22608497 | pmc = 3361584 | doi = 10.1016/j.immuni.2012.02.019 }} </ref> | |||
== References == | == References == | ||
{{reflist}} | {{reflist}} | ||
{{gene-5-stub}} | {{gene-5-stub}} | ||
Latest revision as of 03:45, 25 September 2018
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| External IDs | GeneCards: [1] | ||||||
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Folliculin interacting protein 1 is a protein that in humans is encoded by the FNIP1 gene. [1]
Mutation of FNIP1 in mice causes a deficiency of B cells, and cardiomyopathy, with FNIP1 thought to act as a negative regulator of AMPK.[2][3][4]
References
- ↑ "Entrez Gene: Folliculin interacting protein 1". Retrieved 2016-03-07.
- ↑ Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ (June 2016). "Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity". Proceedings of the National Academy of Sciences of the United States of America. 113 (26): E3706–15. doi:10.1073/pnas.1607592113. PMC 4932993. PMID 27303042.
- ↑ Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R (August 2012). "The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development". Blood. 120 (6): 1254–61. doi:10.1182/blood-2012-02-410407. PMC 3418720. PMID 22709692.
- ↑ Park H, Staehling K, Tsang M, Appleby MW, Brunkow ME, Margineantu D, Hockenbery DM, Habib T, Liggitt HD, Carlson G, Iritani BM (May 2012). "Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development". Immunity. 36 (5): 769–81. doi:10.1016/j.immuni.2012.02.019. PMC 3361584. PMID 22608497.
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