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Gene Symbol |
PIK3R1 |
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Aliases |
AGM7, GRB1, IMD36, p85, p85-ALPHA |
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Entrez Gene ID |
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Gene Name |
Phosphoinositide-3-kinase regulatory subunit 1 |
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Chromosomal Location |
5q13.1 |
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HGNC ID |
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Summary |
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 four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000521381, ENST00000521657, ENST00000520675, ENST00000523807, ENST00000522084, ENST00000320694, ENST00000521409, ENST00000336483, ENST00000517698, ENST00000519025, ENST00000523872 |
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Protein |
ENSP00000428056, ENSP00000429277, ENSP00000428566, ENSP00000430126, ENSP00000429766, ENSP00000323512, ENSP00000431058, ENSP00000338554, ENSP00000430424, ENSP00000429156, ENSP00000430098
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Gene Ontology (GO)
GO ID |
Ontology |
Function |
Evidence |
Reference |
GO:0008286 |
Biological process |
Insulin receptor signaling pathway |
IBA |
21873635 |
GO:0014065 |
Biological process |
Phosphatidylinositol 3-kinase signaling |
IDA |
7782332 |
GO:0014065 |
Biological process |
Phosphatidylinositol 3-kinase signaling |
IMP |
21321938 |
GO:0033120 |
Biological process |
Positive regulation of RNA splicing |
IMP |
20348923 |
GO:0034976 |
Biological process |
Response to endoplasmic reticulum stress |
IDA |
20348923 |
GO:0042307 |
Biological process |
Positive regulation of protein import into nucleus |
IDA |
20348923 |
GO:0043066 |
Biological process |
Negative regulation of apoptotic process |
IMP |
20348923 |
GO:0043551 |
Biological process |
Regulation of phosphatidylinositol 3-kinase activity |
IBA |
21873635 |
GO:0045944 |
Biological process |
Positive regulation of transcription by RNA polymerase II |
IMP |
20348923 |
GO:0046326 |
Biological process |
Positive regulation of glucose import |
ISS |
8052599 |
GO:0046854 |
Biological process |
Phosphatidylinositol phosphorylation |
IBA |
21873635 |
GO:0048009 |
Biological process |
Insulin-like growth factor receptor signaling pathway |
IDA |
7782332 |
GO:0048009 |
Biological process |
Insulin-like growth factor receptor signaling pathway |
IPI |
7541045 |
GO:0050821 |
Biological process |
Protein stabilization |
IDA |
20348923 |
GO:0060396 |
Biological process |
Growth hormone receptor signaling pathway |
IDA |
7782332 |
GO:1900103 |
Biological process |
Positive regulation of endoplasmic reticulum unfolded protein response |
IMP |
20348923 |
GO:1903078 |
Biological process |
Positive regulation of protein localization to plasma membrane |
ISS |
8052599 |
GO:0005737 |
Cellular component |
Cytoplasm |
IDA |
20348923 |
GO:0005942 |
Cellular component |
Phosphatidylinositol 3-kinase complex |
IBA |
21873635 |
GO:0016020 |
Cellular component |
Membrane |
HDA |
19946888 |
GO:0001784 |
Molecular function |
Phosphotyrosine residue binding |
IPI |
20624904 |
GO:0005158 |
Molecular function |
Insulin receptor binding |
IPI |
7537849 |
GO:0005159 |
Molecular function |
Insulin-like growth factor receptor binding |
IPI |
7541045 |
GO:0005168 |
Molecular function |
Neurotrophin TRKA receptor binding |
IPI |
15488758 |
GO:0005515 |
Molecular function |
Protein binding |
IPI |
1314164, 1330535, 1380456, 1382595, 7536927, 7537096, 7568038, 7584133, 7589433, 7642582, 7657594, 7680095, 7680644, 7692233, 7782332, 7797556, 7807015, 8146197, 8183372, 8276809, 8382612, 8564419, 8603569, 8670861, 9153411, 9160881, 9398332, 9417079, 9593725, 9658397, 9813138, 9890970 |
GO:0008134 |
Molecular function |
Transcription factor binding |
IPI |
20348923 |
GO:0019903 |
Molecular function |
Protein phosphatase binding |
IPI |
14699157 |
GO:0043125 |
Molecular function |
ErbB-3 class receptor binding |
IDA |
10572067 |
GO:0043559 |
Molecular function |
Insulin binding |
IDA |
8440175 |
GO:0046935 |
Molecular function |
1-phosphatidylinositol-3-kinase regulator activity |
IBA |
21873635 |
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Protein Information |
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Protein Name |
Phosphatidylinositol 3-kinase regulatory subunit alpha, PI3-kinase subunit p85-alpha, PI3K regulatory subunit alpha, phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha, phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha), phosphatidylinositol 3-kinase-associated p-85 alpha, phosphoinositide-3-kinase regulatory subunit alpha, phosphoinositide-3-kinase, regulatory subunit 1 (alpha), ptdIns-3-kinase regulatory subunit alpha |
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Function |
Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923). |
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UniProt |
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PDB |
5AUL, 5GJI, 1A0N, 1AZG, 2IUH, 1H9O, 1PBW, 1PHT, 1PIC, 1PKS, 1PKT, 2IUG, 2IUI, 2RD0, 2V1Y, 3HHM, 3HIZ, 3I5R, 3I5S, 4A55, 4JPS, 4L1B, 4L23, 4L2Y, 4OVU, 4OVV, 4WAF, 4YKN, 4ZOP, 5FI4, 5ITD, 5M6U, 5SW8, 5SWG, 5SWO, 5SWP, 5SWR, 5SWT, 5SX8, 5SX9, 5SXA, 5SXB, 5SXC, 5SXD, 5SXE, 5SXF, 5SXI, 5SXJ, 5SXK, 5UBT, 5UK8, |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000282397 |
P17948 |
P17948 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Genetic Diseases |
26529633, 25488983, 22351933, 23810379, 23810382, 819054, 27116393, 27076228, 27221134, 23810378, 26497935 |
Endocrine System Diseases |
PCOS |
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Immune System Diseases |
Immunodeficiency |
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Agammaglobulinemia |
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Neoplasms |
Burkitt Lymphoma |
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Prostate cancer |
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Glioblastoma |
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Carcinoma |
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Bladder Cancer |
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Brain Neoplasms |
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Ctaneous Melanoma |
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Colorectal Cancer |
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Endometrial Cancer |
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Anaplastic Carcinoma |
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Nutritional and Metabolic Diseases |
SHORT syndrome |
23810382, 12514365, 23810379, 25741868, 18384141, 8574420, 24088041, 11135494, 26633545, 23810378, 24830046, 6407320, 25326637 |
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References |
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Chu Yong-li, Qiu Hong-yu, Sun Yong-yu, Li Min, Li Hong-fa |
Department of Obstetrics and Gynecology, Xiehe Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China. |
Zhonghua Fu Chan Ke Za Zhi. 2006 Jul;41(7):455-8. |
Abstract
OBJECTIVE: To investigate the expression of phosphatidylinositol 3-kinase (PI-3K) in adipose tissue of polycystic ovary syndrome patients (PCOS), and explore molecular mechanisms of insulin resistance (IR) in PCOS. METHODS: Samples from patients with PCOS with IR (n = 19), PCOS without IR (n = 10) and controls (n = 15) were collected. Serum fasting insulin (FIN) and fasting plasma glucose (FPG) were measured. Insulin resistance index was calculated using homeostasis model assessment (HOMA) to analyze the relationship between these markers and IR. Western blot technique was used to detect the PI-3K p85 subunit. Gene expression of PI-3K p85 subunit was detected by reverse transcription polymerase chain reaction (RT-PCR) method. Kinase activity was detected by immunoprecipitation, thin-layer chromatography and gamma scintillation counting. RESULTS: (1) The levels of FIN [(25.2 +/- 3.8) mU/L] and HOMA-IR (1.6 +/- 0.3) in PCOS with IR were significantly higher than those in PCOS without IR [(13.4 +/- 3.8) mU/L, 0.9 +/- 0.3] and controls [(9.5 +/- 2.6) mU/L, 0.5 +/- 0.3; all P < 0.05). (2) There was no significant difference in the protein (0.65 +/- 0.10) and gene expression (0.92 +/- 0.12) of PI-3K p85 subunit in PCOS with IR compared with PCOS without IR (0.72 +/- 0.10, 1.01 +/- 0.10) and control groups (0.73 +/- 0.14, 1.00 +/- 0.12; P > 0.05). (3) PI-3K activity in PCOS with IR (81%) and PCOS without IR (89%) was significantly decreased (P < 0.01, P < 0.05) and negatively correlated with HOMA-IR (r = -0.69, P < 0.01; r = -0.62, P < 0.05). CONCLUSIONS: No significant difference in the protein and gene expression of PI-3K p85 subunit in PCOS with IR is found. The decreased PI-3K activity may lead to IR of PCOS. |
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