Top ▲

phosphoinositide-3-kinase regulatory subunit 1

Click here for help

Immunopharmacology Ligand target has curated data in GtoImmuPdb

Target id: 2503

Nomenclature: phosphoinositide-3-kinase regulatory subunit 1

Abbreviated Name: p85α/PIK3R1

Family: Phosphatidylinositol kinases

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 724 5q13.1 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
Mouse - 724 13 53.92 cM Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Rat - 724 2q12 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Previous and Unofficial Names Click here for help
GRB1 | p50alpha | p55alpha | PI3K regulatory subunit alpha | PI3-kinase regulatory subunit alpha | PtdIns-3-kinase regulatory subunit alpha | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)
Database Links Click here for help
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
RefSeq Nucleotide
RefSeq Protein
Immunopharmacology Comments
p85α is included in GtoImmuPdb as it is the regulatory subunit of several PI3Ks (e.g. PI3Kδ and PI3Kγ) with roles in leukocyte biology and therefore important for immunity [3]. Mutations in the PIK3R1 gene that generate proteins incapable of interacting with the catalytic p110 PI3K subunits (and causes elevated p110 activity) are reported to cause human immunodeficiency [2,4].
Immuno Process Associations
Immuno Process:  Inflammation
Immuno Process:  T cell (activation)
Immuno Process:  Immune regulation
Immuno Process:  Chemotaxis & migration
Immuno Process:  Cellular signalling
Immuno Process:  B cell (activation)
Immuno Process:  Immune system development
Immuno Process:  Cytokine production & signalling
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Agammaglobulinemia, autosomal recessive
Description: A rare form of agammaglobulinemia associated with primary immunodeficiency. Caused by homozygous mutation in the PIK3R1 gene.
Synonyms: agammaglobulinemia 7
agammaglobulinemia, non-Bruton type
OMIM: 615214
Orphanet: ORPHA33110
References:  1,4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human 301STOP c.901 C>T A novel recessive mutation in exon 7 of the PIK3R1 gene. 4


Show »

1. de la Morena M, Haire RN, Ohta Y, Nelson RP, Litman RT, Day NK, Good RA, Litman GW. (1995) Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. Eur J Immunol, 25 (3): 809-15. [PMID:7705412]

2. Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A et al.. (2014) A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest, 124 (9): 3923-8. [PMID:25133428]

3. Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K. (2016) PI3Kδ and primary immunodeficiencies. Nat Rev Immunol, 16 (11): 702-714. [PMID:27616589]

4. Tang P, Upton JEM, Barton-Forbes MA, Salvadori MI, Clynick MP, Price AK, Goobie SL. (2018) Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1. J Clin Immunol, 38 (1): 88-95. [PMID:29178053]

How to cite this page