phosphoinositide-3-kinase regulatory subunit 1
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The PIK3R1 gene provides instructions for making a part (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The primary function of the subunit is to regulate the enzyme's activity. Several slightly different versions of this regulatory subunit are produced from the PIK3R1 gene; the most abundant of these is called p85 alpha (p85α).
Normal function
The PIK3R1 gene provides instructions for making a part (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The primary function of the subunit is to regulate the enzyme's activity. Several slightly different versions of this regulatory subunit are produced from the PIK3R1 gene; the most abundant of these is called p85 alpha (p85α).
PI3K is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. PI3K phosphorylates certain signaling molecules, which triggers a series of additional reactions that transmit chemical signals within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival.
Studies suggest that PI3K signaling may be involved in how cells regulate several hormones. One of these hormones is insulin, which helps control levels of blood glucose, also called blood sugar. PI3K signaling may also play a role in the maturation of fat cells (adipocytes).
Conditions referring to this gene or chromosome
Altri nomi
p85
p85-ALPHA
P85A_HUMAN
phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha
phosphatidylinositol 3-kinase regulatory subunit alpha
phosphatidylinositol 3-kinase-associated p-85 alpha
phosphoinositide-3-kinase regulatory subunit
PI3-kinase subunit p85-alpha
PI3K regulatory subunit alpha
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Ulteriori letture e riferimenti
- phosphoinositide-3-kinase regulatory subunit 1; MedlinePlus, National Library of Medicine.
- Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013 Jul 11;93(1):150-7. doi: 10.1016/j.ajhg.2013.05.023. Epub 2013 Jun 27.
- Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.
- Jaiswal BS, Janakiraman V, Kljavin NM, Chaudhuri S, Stern HM, Wang W, Kan Z, Dbouk HA, Peters BA, Waring P, Dela Vega T, Kenski DM, Bowman KK, Lorenzo M, Li H, Wu J, Modrusan Z, Stinson J, Eby M, Yue P, Kaminker JS, de Sauvage FJ, Backer JM, Seshagiri S. Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation. Cancer Cell. 2009 Dec 8;16(6):463-74. doi: 10.1016/j.ccr.2009.10.016.
- Mellor P, Furber LA, Nyarko JN, Anderson DH. Multiple roles for the p85alpha isoform in the regulation and function of PI3K signalling and receptor trafficking. Biochem J. 2012 Jan 1;441(1):23-37. doi: 10.1042/BJ20111164.
- Philp AJ, Campbell IG, Leet C, Vincan E, Rockman SP, Whitehead RH, Thomas RJ, Phillips WA. The phosphatidylinositol 3'-kinase p85alpha gene is an oncogene in human ovarian and colon tumors. Cancer Res. 2001 Oct 15;61(20):7426-9.
- Quayle SN, Lee JY, Cheung LW, Ding L, Wiedemeyer R, Dewan RW, Huang-Hobbs E, Zhuang L, Wilson RK, Ligon KL, Mills GB, Cantley LC, Chin L. Somatic mutations of PIK3R1 promote gliomagenesis. PLoS One. 2012;7(11):e49466. doi: 10.1371/journal.pone.0049466. Epub 2012 Nov 14.
- Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Dobler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17.
- Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Heron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Riviere JB. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27.
- Urick ME, Rudd ML, Godwin AK, Sgroi D, Merino M, Bell DW. PIK3R1 (p85alpha) is somatically mutated at high frequency in primary endometrial cancer. Cancer Res. 2011 Jun 15;71(12):4061-7. doi: 10.1158/0008-5472.CAN-11-0549. Epub 2011 Apr 8.
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