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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
Chromosome 5 · 5q13.1
NCBI Gene: 5295Ensembl: ENSG00000145675.17HGNC: HGNC:8979UniProt: A0A2X0SFG1
878PubMed Papers
23Diseases
24Drugs
78Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to insulin stimuluspositive regulation of RNA splicingregulation of toll-like receptor 4 signaling pathwayprotein phosphatase bindingSHORT syndromeimmunodeficiency 36 with lymphoproliferationagammaglobulinemia 7, autosomal recessivecancer
✦AI Summary

PIK3R1 encodes the regulatory subunit p85α of phosphoinositide 3-kinase (PI3K), functioning as a critical adapter protein in insulin and growth factor signaling 1. PIK3R1 binds activated receptor tyrosine kinases through its SH2 domain and mediates recruitment of the p110 catalytic subunit to the plasma membrane, where PI3K phosphorylates PIP2 to generate PIP3, activating downstream AKT signaling essential for glucose uptake and glycogen synthesis 1. Beyond metabolic functions, PIK3R1 plays roles in receptor signaling (FGFR, KIT, PDGFR) and modulates ER stress responses via XBP1 nuclear translocation. Functionally, PIK3R1 stabilizes p110 and serves as an adapter to interact with insulin receptor substrates and growth factor receptors 1. Disease relevance includes mutations causing Activated PI3Kδ Syndrome type 2 (APDS2), characterized by immunodeficiency with recurrent infections, lymphoproliferation (70.4% of patients), hyper-IgM syndrome (48.1%), and autoimmunity 2. PIK3R1 mutations also associate with neonatal diabetes and appear in T-cell acute lymphoblastic leukemia as adverse prognostic indicators 34. Clinically, gain-of-function PIK3R1 variants are treatable with leniolisib, an FDA-approved PI3Kδ inhibitor, though some hotspots show partial drug resistance addressable by combination therapies 5. PIK3R1 hotspot mutations in colorectal cancers predict aspirin responsiveness, reducing recurrence risk 6.

Sources cited
1
PIK3R1 is a regulatory subunit of PI3K that stabilizes p110, serves as an adaptor for IRS proteins and growth factor receptors, and regulates metabolic homeostasis through PIP2 to PIP3 conversion
PMID: 37628845
2
PIK3R1 gain-of-function mutations cause APDS2, presenting with recurrent infections, lymphoproliferation (70.4%), hyper-IgM syndrome (48.1%), and autoimmunity; treatable with immunosuppressive agents
PMID: 31111319
3
PIK3R1 mutations are identified as causing neonatal diabetes mellitus with onset in the first 6 months of life
PMID: 39344692
4
PIK3R1 alterations in the PI3K pathway are adverse prognostic indicators in T-cell acute lymphoblastic leukemia
PMID: 38848537
5
PIK3R1 gain-of-function variants are functionally validated and respond to leniolisib (FDA-approved PI3Kδ inhibitor) with some hotspots showing partial resistance addressable by combination mTORC inhibition
PMID: 40543502
6
PIK3R1 mutations in colorectal cancer are associated with aspirin responsiveness, reducing 3-year recurrence risk from 16.8% to 7.7%
PMID: 40961426
7
PIK3R1 displays placenta-specific polymorphic imprinting with complex cell-type specificity
PMID: 40568952
Disease Associationsⓘ23
SHORT syndromeOpen Targets
0.82Strong
immunodeficiency 36 with lymphoproliferationOpen Targets
0.76Strong
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.74Strong
cancerOpen Targets
0.63Moderate
bone development diseaseOpen Targets
0.56Moderate
endometrial cancerOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
vascular malformationOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.51Moderate
breast cancerOpen Targets
0.49Moderate
agammaglobulinemiaOpen Targets
0.47Moderate
glioblastoma multiformeOpen Targets
0.47Moderate
chronic myelogenous leukemiaOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
combined immunodeficiencyOpen Targets
0.46Moderate
colorectal adenocarcinomaOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
immunodeficiency diseaseOpen Targets
0.45Moderate
non-small cell lung carcinomaOpen Targets
0.45Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
Agammaglobulinemia 7, autosomal recessiveUniProt
Immunodeficiency 36 with lymphoproliferationUniProt
SHORT syndromeUniProt
Pathogenic Variants78
NM_181523.3(PIK3R1):c.1425+1G>TPathogenic
Immunodeficiency 36 with lymphoproliferation|not provided|SHORT syndrome;Immunodeficiency 36 with lymphoproliferation;Agammaglobulinemia 7, autosomal recessive|PIK3R1-related disorder
★★☆☆2025
NM_181523.3(PIK3R1):c.1425+1G>APathogenic
not provided|Immunodeficiency 36 with lymphoproliferation|Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome|Inherited Immunodeficiency Diseases|SHORT syndrome|Inborn genetic diseases|See cases|PIK3R1-related disorder|Gastric cancer
★★☆☆2025
NM_181523.3(PIK3R1):c.1300-2A>GPathogenic
Inherited Immunodeficiency Diseases|Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive|not provided|Lymphoma|Squamous cell lung carcinoma
★★☆☆2025
NM_181523.3(PIK3R1):c.1425+2T>GPathogenic
Immunodeficiency 36 with lymphoproliferation|not provided|Melanoma
★★☆☆2024
NM_181523.3(PIK3R1):c.1425+2T>APathogenic
Immunodeficiency 36 with lymphoproliferation|Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation|Inborn genetic diseases
★★☆☆2024
NM_181523.3(PIK3R1):c.1425+1G>CPathogenic
Immunodeficiency 36 with lymphoproliferation|not specified|Inborn genetic diseases|SHORT syndrome;Immunodeficiency 36 with lymphoproliferation;Agammaglobulinemia 7, autosomal recessive|See cases
★★☆☆2024
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)Pathogenic
SHORT syndrome|not provided|Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome|Immunodeficiency 36 with lymphoproliferation|Inborn genetic diseases
★★☆☆2024→ Residue 649
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)Pathogenic
Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive|PIK3R1-related disorder|Agammaglobulinemia 7, autosomal recessive
★★☆☆2024→ Residue 301
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)Pathogenic
Colorectal cancer|Immunodeficiency 36 with lymphoproliferation|Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive
★★☆☆2023→ Residue 448
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation|SHORT syndrome
★★☆☆2023→ Residue 461
NM_181523.3(PIK3R1):c.521del (p.Leu174fs)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 174
NM_181523.3(PIK3R1):c.1568+2T>GLikely pathogenic
SHORT syndrome
★☆☆☆2025
NM_181523.3(PIK3R1):c.1814+1G>CLikely pathogenic
SHORT syndrome;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation
★☆☆☆2025
NM_181523.3(PIK3R1):c.1600C>T (p.Arg534Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 534
NM_181523.3(PIK3R1):c.1698_1703dup (p.Pro568_Asp569insLysPro)Likely pathogenic
Vascular malformation
★☆☆☆2025→ Residue 568
NM_181523.3(PIK3R1):c.1756C>T (p.Gln586Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 586
NM_181523.3(PIK3R1):c.1713_1714del (p.Gln572fs)Likely pathogenic
SHORT syndrome
★☆☆☆2025→ Residue 572
NM_181523.3(PIK3R1):c.1960C>T (p.Gln654Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 654
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)Likely pathogenic
Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation
★☆☆☆2025→ Residue 641
NM_181523.3(PIK3R1):c.703C>T (p.Gln235Ter)Pathogenic
Immunodeficiency 14|Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 235
View on ClinVar ↗
Drug Targets24
APITOLISIBPhase II
PI3-kinase class I inhibitor
non-Hodgkins lymphoma
AZD-6482Phase I
PI3-kinase class I inhibitor
BGT-226Phase I/II
PI3-kinase class I inhibitor
BUPARLISIBPhase III
PI3-kinase class I inhibitor
breast cancer
DACTOLISIBPhase III
PI3-kinase class I inhibitor
Respiratory tract infection
DS-7423Phase I
Serine/threonine-protein kinase mTOR inhibitor
GEDATOLISIBPhase III
PI3-kinase class I inhibitor
breast cancer
GSK-1059615Phase I
PI3-kinase class I inhibitor
breast cancer
IZORLISIBPhase I/II
PI3-kinase class I inhibitor
colorectal cancer
OMIPALISIBPhase I
PI3-kinase class I inhibitor
lymphoma
PANULISIBPhase I
PI3-kinase class I inhibitor
PAXALISIBPhase II
PI3-kinase class I inhibitor
brain glioblastoma
PF-04691502Phase II
PI3-kinase class I inhibitor
endometrial cancer
PICTILISIBPhase II
PI3-kinase class I inhibitor
breast cancer
PILARALISIBPhase II
PI3-kinase class I inhibitor
RECILISIBPhase I
PI3-kinase class I inhibitor
SAMOTOLISIBPhase II
PI3-kinase class I inhibitor
prostate cancer
SF-1126Phase II
PI3-kinase class I inhibitor
head and neck malignant neoplasia
SONOLISIBPhase II
PI3-kinase class I inhibitor
TASELISIBPhase III
PI3-kinase class I inhibitor
breast cancer
VOXTALISIBPhase II
Serine/threonine-protein kinase mTOR inhibitor
VS-5584Phase I
Serine/threonine-protein kinase mTOR inhibitor
Malignant Mesothelioma
WX-037Phase I
PI3-kinase class I inhibitor
neoplasm
ZSTK-474Phase I
PI3-kinase class I inhibitor
Related Genes
ALKProtein interaction100%AXLProtein interaction100%BCRProtein interaction100%CBLBProtein interaction100%CD19Protein interaction100%CD28Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
92%
Brain
75%
Liver
58%
Lung
39%
Ovary
35%
Gene Interaction Network
Click a node to explore
PIK3R1ALKAXLBCRCBLBCD19CD28
PROTEIN STRUCTURE
Preparing viewer…
PDB5GJI · 0.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.16–0.36]
RankingsWhere PIK3R1 stands among ~20K protein-coding genes
  • #203of 20,598
    Most Researched878 · top 1%
  • #942of 5,498
    Most Pathogenic Variants78 · top quartile
  • #1,636of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedPIK3R1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Low-Dose Aspirin for PI3K-Altered Localized Colorectal Cancer.
PMID: 40961426
N Engl J Med · 2025
1.00
2
PMID: 24830046
0.92
3
Neonatal diabetes mellitus around the world: Update 2024.
PMID: 39344692
J Diabetes Investig · 2024
0.90
4
Low expression of m6A reader YTHDC1 promotes progression of ovarian cancer via PIK3R1/STAT3/GANAB axis.
PMID: 37781028
Int J Biol Sci · 2023
0.84
5
Identification of multiple organ metastasis-associated hub mRNA/miRNA signatures in non-small cell lung cancer.
PMID: 38057344
Cell Death Dis · 2023
0.82