Gene Gene information from NCBI Gene database.
Entrez ID 5295
Gene name Phosphoinositide-3-kinase regulatory subunit 1
Gene symbol PIK3R1
Synonyms (NCBI Gene)
AGM7GRB1IMD36p85p85-ALPHAp85alpha
Chromosome 5
Chromosome location 5q13.1
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 sub
SNPs SNP information provided by dbSNP.
33
SNP ID Visualize variation Clinical significance Consequence
rs149905863 A>C,G Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs397509384 G>A Pathogenic Genic upstream transcript variant, coding sequence variant, stop gained
rs397514046 ATT>- Pathogenic, uncertain-significance Coding sequence variant, inframe deletion
rs397514047 G>A Pathogenic Coding sequence variant, missense variant
rs397515453 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1618
miRTarBase ID miRNA Experiments Reference
MIRT004103 hsa-miR-29a-3p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 20943204
MIRT004103 hsa-miR-29a-3p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 20943204
MIRT006724 hsa-miR-376a-3p Luciferase reporter assayqRT-PCRWestern blot 22684007
MIRT006724 hsa-miR-376a-3p Luciferase reporter assayqRT-PCRWestern blot 22684007
MIRT030860 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
112
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0001678 Process Intracellular glucose homeostasis ISS
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0001953 Process Negative regulation of cell-matrix adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171833 8979 ENSG00000145675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27986
Protein name Phosphatidylinositol 3-kinase regulatory subunit alpha (PI3-kinase regulatory subunit alpha) (PI3K regulatory subunit alpha) (PtdIns-3-kinase regulatory subunit alpha) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha) (PI3-kinase subunit p85
Protein 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
PDB 1A0N , 1AZG , 1H9O , 1PBW , 1PHT , 1PIC , 1PKS , 1PKT , 2IUG , 2IUH , 2IUI , 2RD0 , 2V1Y , 3HHM , 3HIZ , 3I5R , 3I5S , 4A55 , 4JPS , 4L1B , 4L23 , 4L2Y , 4OVU , 4OVV , 4WAF , 4YKN , 4ZOP , 5AUL , 5FI4 , 5GJI , 5ITD , 5M6U , 5SW8 , 5SWG , 5SWO , 5SWP , 5SWR , 5SWT , 5SX8 , 5SX9 , 5SXA , 5SXB , 5SXC , 5SXD , 5SXE , 5SXF , 5SXI , 5SXJ , 5SXK , 5UBT , 5UK8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP 129 282 RhoGAP domain Domain
PF00017 SH2 333 408 SH2 domain Domain
PF16454 PI3K_P85_iSH2 431 599 Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain Domain
PF00017 SH2 624 698 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed in skeletal muscle and brain, and at lower levels in kidney and cardiac muscle. Isoform 2 and isoform 4 are present in skeletal muscle (at protein level). {ECO:0000269|PubMed:8628286}.
Sequence
Sequence length 724
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
Platinum drug resistance
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Apoptosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
Focal adhesion
Signaling pathways regulating pluripotency of stem cells
Platelet activation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Cholinergic synapse
Inflammatory mediator regulation of TRP channels
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Prolactin signaling pathway
Thyroid hormone signaling pathway
Regulation of lipolysis in adipocytes
Relaxin signaling pathway
GnRH secretion
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Carbohydrate digestion and absorption
Alzheimer disease
Spinocerebellar ataxia
Prion disease
Bacterial invasion of epithelial cells
Shigellosis
Yersinia infection
Chagas disease
Amoebiasis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Melanoma
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis
  PI3K Cascade
IRS-mediated signalling
GPVI-mediated activation cascade
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
PI3K events in ERBB4 signaling
PIP3 activates AKT signaling
Interleukin-7 signaling
Signaling by SCF-KIT
Synthesis of PIPs at the plasma membrane
GAB1 signalosome
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
PI3K events in ERBB2 signaling
PI3K/AKT activation
Downstream TCR signaling
Role of phospholipids in phagocytosis
Tie2 Signaling
Constitutive Signaling by Aberrant PI3K in Cancer
DAP12 signaling
Role of LAT2/NTAL/LAB on calcium mobilization
Costimulation by the CD28 family
CD28 dependent PI3K/Akt signaling
G alpha (q) signalling events
GP1b-IX-V activation signalling
VEGFA-VEGFR2 Pathway
Interleukin-3, Interleukin-5 and GM-CSF signaling
Constitutive Signaling by EGFRvIII
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
Interleukin-4 and Interleukin-13 signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
MET activates PI3K/AKT signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RET signaling
Extra-nuclear estrogen signaling
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Interleukin receptor SHC signaling
Regulation of signaling by CBL
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 ECD mutants
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
61
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Agammaglobulinemia 7, autosomal recessive Pathogenic; Likely pathogenic rs367669362, rs1230037871, rs1339790364, rs1289537429, rs2112261986, rs587777709, rs2530954124, rs1389187507, rs2531001766, rs2112253467, rs2531001005, rs2531001159, rs2531010723, rs1057519838, rs1554051075
View all (5 more)
RCV001384927
RCV001877177
RCV001999758
RCV001898266
RCV002031764
View all (18 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLOVES syndrome Likely pathogenic; Pathogenic rs2112277098, rs1747645807, rs751582616 RCV002221174
RCV002226776
RCV002221158
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma Pathogenic rs1747658551 RCV005866921
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer Likely pathogenic; Pathogenic rs1289537429 RCV001293839
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Activated PI3K-delta syndrome Conflicting classifications of pathogenicity; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL AGAMMAGLOBULINEMIA GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME ORPHANET_DG 25133428
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Activated PI3K-delta syndrome ACTIVATED PI3K-DELTA SYNDROME Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME BEFREE 27116393, 27616589, 28167755
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Adenocarcinoma Adenocarcinoma BEFREE 1310887
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 21077741
★☆☆☆☆
Found in Text Mining only
African Burkitt`s lymphoma African Burkitt`s Lymphoma CTD_human_DG 23143597
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 22351933
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 25133428 Associate
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 25488983
★☆☆☆☆
Found in Text Mining only