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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]
PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PIK3R1 include Short Syndrome and Agammaglobulinemia 7, Autosomal Recessive. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and GDNF-Family Ligands and Receptor Interactions. Gene Ontology (GO) annotations related to this gene include GTP binding and transcription factor binding. An important paralog of this gene is PIK3R2.
PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001784 | phosphotyrosine residue binding | IPI | 20624904 |
GO:0005068 | transmembrane receptor protein tyrosine kinase adaptor activity | ISS | -- |
GO:0005158 | insulin receptor binding | IPI | 7537849 |
GO:0005159 | insulin-like growth factor receptor binding | IPI | 7541045 |
GO:0005168 | neurotrophin TRKA receptor binding | IPI | 15488758 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005737 | cytoplasm | IDA | 20348923 |
GO:0005801 | cis-Golgi network | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
.92
|
|
2 | IL-2 Pathway |
ErbB Family Pathway
.59
ErbB4 Pathway
.59
Prolactin Signaling
.54
Thrombopoietin Pathway
.51
Growth Hormone Signaling
.49
ErbB2-ErbB3 Heterodimers
.49
|
IL-2 Pathway
.48
LPS Stimulated MAPK Signaling
.47
TREM1 Pathway
.43
HMGB1 Pathway
.36
PI3K Signaling in B-Lymphocyte
.35
IL-4 Pathway
.34
|
3 | Downstream signaling of activated FGFR2 | ||
4 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Immune response IL-9 signaling pathway
.42
Development Thrombopoietin-regulated cell processes
.38
IL-9 Pathway
.36
|
|
5 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF2 activity
.47
Translation Regulation of EIF4F activity
.44
|
Development CNTF receptor signaling
.43
Cell adhesion PLAU signaling
.35
Development Growth hormone signaling via PI3K/AKT and MAPK cascades
.34
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001678 | cellular glucose homeostasis | ISS | -- |
GO:0001953 | negative regulation of cell-matrix adhesion | IEA | -- |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0006606 | protein import into nucleus | IEA | -- |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Isoproterenol | Approved, Investigational | Pharma | Agonist, Full agonist, Target, agonist | 31 | ||
Everolimus | Approved | Pharma | mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors | 1037 | ||
Wortmannin | Experimental | Pharma | Target | PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 0 | |
3-Methyladenine | Experimental | Pharma | Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy | 0 | ||
Quercetin | Experimental, Investigational | Pharma | Antitumor agent, Non-selective PI 3-kinase inhibitor | 54 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
LY 294002 hydrochloride |
|
934389-88-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
3-Methyladenine | Class III PI 3-kinase inhibitor; also inhibits autophagy | 5142-23-4 |
LY 294002 hydrochloride | Prototypical PI 3-kinase inhibitor; also inhibits other kinases | 934389-88-5 |
PI 103 hydrochloride | Inhibitor of PI 3-kinase, mTOR and DNA-PK | 371935-79-4 |
Quercetin | Non-selective PI 3-kinase inhibitor | 117-39-5 |
Wortmannin | Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 19545-26-7 |
Compound | Action | Cas Number |
---|---|---|
A66 | P110α inhibitor | 1166227-08-2 |
AS-605240 | Potent and selective PI 3-Kγ inhibitor | 648450-29-7 |
BEZ235 Tosylate | MTOR/P13K inhibitor | 1028385-32-1 |
GSK2636771 | PIK3 inhibitor | 1372540-25-4 |
HS-173 | 1276110-06-5 | |
IC-87114 | PI3Kδ inhibitor | 371242-69-2 |
IPI-145 (INK1197) | PI3K-δ/PI3K-γ inhibitor | 1201438-56-3 |
LY 294002 | Potent PI3K inhibitor | 154447-36-6 |
PI-3065 | P110δkinase inhibitor | 955977-50-1 |
SAR245409 (XL765) | mTOR/PI3K inhibitor | 1349796-36-6 |
TG100-115 | PI3Kγ/PI3Kδ inhibitor | 677297-51-7 |
TG100713 | 925705-73-3 | |
XL147 | PI3K inhibitor,selective and reversible | 956958-53-5 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - |
ExUns: | 19b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIK3R1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIK3R1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIK3R1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIK3R1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pik3r1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pik3r1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIK3R1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIK3R1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIK3R1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pik3r1 30 |
|
||
Str.10862 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | pik3r1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Pi3K21B 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | aap-1 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642350 | Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 68,273,486(+) | A/C | INTRON_VARIANT | |
645272 | Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 68,279,653(+) | C/T | MISSENSE_VARIANT | |
648899 | Pathogenic: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 68,292,306(+) | AT/A | FRAMESHIFT_VARIANT | |
649231 | Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 68,280,609(+) | C/T | MISSENSE_VARIANT | |
661141 | Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 | 68,226,845(+) | A/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1041177 | CNV | insertion | 17803354 |
esv28511 | CNV | loss | 19812545 |
nsv1078972 | CNV | insertion | 25765185 |
nsv1120507 | CNV | tandem duplication | 24896259 |
nsv1137004 | CNV | deletion | 24896259 |
nsv462210 | CNV | loss | 19166990 |
nsv517504 | CNV | loss | 19592680 |
nsv598411 | CNV | gain | 21841781 |
nsv598412 | CNV | loss | 21841781 |
nsv830331 | CNV | gain | 17160897 |
nsv950076 | CNV | duplication | 24416366 |
nsv950077 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
short syndrome |
|
|
agammaglobulinemia 7, autosomal recessive |
|
|
immunodeficiency 36 |
|
|
immunodeficiency 14 |
|
|
agammaglobulinemia, non-bruton type |
|
|