PIK3R1

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PIK3R1
Protein PIK3R1 PDB 1bfi.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PIK3R1, AGM7, GRB1, IMD36, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit 1
External IDs MGI: 97583 HomoloGene: 7889 GeneCards: 5295
RNA expression pattern
PBB GE PIK3R1 212239 at tn.png

PBB GE PIK3R1 212240 s at tn.png

PBB GE PIK3R1 212249 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001242466
NM_181504
NM_181523
NM_181524

NM_001024955
NM_001077495

RefSeq (protein)

NP_001229395.1
NP_852556.2
NP_852664.1
NP_852665.1

NP_001070963.1

Location (UCSC) Chr 5: 68.22 – 68.3 Mb Chr 13: 101.68 – 101.77 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.[1]

Function[edit]

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms.[2]

Clinical significance[edit]

Mutations in PIK3R1 are implicated in cases of breast cancer .[3]

Mutations in PIK3R1 are associated to SHORT syndrome .[4]

Interactions[edit]

PIK3R1 has been shown to interact with:

References[edit]

  1. ^ Volinia S, Patracchini P, Otsu M, Hiles I, Gout I, Calzolari E, Bernardi F, Rooke L, Waterfield MD (May 1992). "Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta". Oncogene 7 (4): 789–93. PMID 1314371. 
  2. ^ "Entrez Gene: PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)". 
  3. ^ The Cancer Genome Atlas Network (October 2012). "Comprehensive molecular portraits of human breast tumours". Nature 490 (7418): 61–70. doi:10.1038/nature11412. PMC 3465532. PMID 23000897. 
  4. ^ Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C (2014). "Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome". BMC Med. Genet. 15 (1): 51. doi:10.1186/1471-2350-15-51. PMC 4022398. PMID 24886349. 
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Further reading[edit]

  • Benito M, Valverde AM, Lorenzo M (1996). "IGF-I: a mitogen also involved in differentiation processes in mammalian cells". Int. J. Biochem. Cell Biol. 28 (5): 499–510. doi:10.1016/1357-2725(95)00168-9. PMID 8697095. 
  • Snapper SB, Rosen FS (1999). "The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization". Annu. Rev. Immunol. 17: 905–29. doi:10.1146/annurev.immunol.17.1.905. PMID 10358777. 
  • Katada T, Kurosu H, Okada T, Suzuki T, Tsujimoto N, Takasuga S, Kontani K, Hazeki O, Ui M (1999). "Synergistic activation of a family of phosphoinositide 3-kinase via G-protein coupled and tyrosine kinase-related receptors". Chem. Phys. Lipids 98 (1-2): 79–86. doi:10.1016/S0009-3084(99)00020-1. PMID 10358930. 
  • Zhang W, Samelson LE (2000). "The role of membrane-associated adaptors in T cell receptor signalling". Semin. Immunol. 12 (1): 35–41. doi:10.1006/smim.2000.0205. PMID 10723796. 
  • Greenway AL, Holloway G, McPhee DA, Ellis P, Cornall A, Lidman M (2003). "HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication". J. Biosci. 28 (3): 323–35. doi:10.1007/BF02970151. PMID 12734410. 
  • Leavitt SA, SchOn A, Klein JC, Manjappara U, Chaiken IM, Freire E (2004). "Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm". Curr. Protein Pept. Sci. 5 (1): 1–8. doi:10.2174/1389203043486955. PMID 14965316. 
  • Joseph AM, Kumar M, Mitra D (2005). "Nef: "necessary and enforcing factor" in HIV infection". Curr. HIV Res. 3 (1): 87–94. doi:10.2174/1570162052773013. PMID 15638726.