phosphoinositide-3-kinase regulatory subunit 1

Target id: 2503

Nomenclature: phosphoinositide-3-kinase regulatory subunit 1

Abbreviated Name: p85α/PIK3R1

Family: Phosphatidylinositol kinases

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     phosphoinositide-3-kinase regulatory subunit 1 has curated GtoImmuPdb data

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 724 5q13.1 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
Mouse - 724 13 D1 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Rat - 724 2q12 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Previous and Unofficial Names
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
CATH/Gene3D
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
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
GO Annotations:  Associated to 2 GO processes
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
GO:0050900 leukocyte migration TAS
Immuno Process:  Antigen presentation
GO Annotations:  Associated to 1 GO processes
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Immuno Process:  T cell (activation)
GO Annotations:  Associated to 1 GO processes
GO:0031295 T cell costimulation TAS
Immuno Process:  Immune regulation
GO Annotations:  Associated to 5 GO processes
GO:0031295 T cell costimulation TAS
GO:0038095 Fc-epsilon receptor signaling pathway TAS
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
GO:0050852 T cell receptor signaling pathway TAS
click arrow to show/hide IEA associations
GO:0045671 negative regulation of osteoclast differentiation IEA
Immuno Process:  Chemotaxis & migration
GO Annotations:  Associated to 2 GO processes
GO:0031295 T cell costimulation TAS
GO:0050900 leukocyte migration TAS
Immuno Process:  Cellular signalling
GO Annotations:  Associated to 5 GO processes
GO:0031295 T cell costimulation TAS
GO:0038095 Fc-epsilon receptor signaling pathway TAS
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
GO:0050852 T cell receptor signaling pathway TAS
click arrow to show/hide IEA associations
GO:0030183 B cell differentiation IEA
Immuno Process:  B cell (activation)
GO Annotations:  Associated to 1 GO processes, IEA only
click arrow to show/hide IEA associations
GO:0030183 B cell differentiation IEA
Immuno Process:  Immune system development
GO Annotations:  Associated to 2 GO processes, IEA only
click arrow to show/hide IEA associations
GO:0030183 B cell differentiation IEA
GO:0045671 negative regulation of osteoclast differentiation IEA
Immuno Process:  Cytokine production & signalling
GO Annotations:  Associated to 2 GO processes, IEA only
GO:0038111 interleukin-7-mediated signaling pathway TAS
click arrow to show/hide IEA associations
GO:0032760 positive regulation of tumor necrosis factor production IEA
Clinically-Relevant Mutations and Pathophysiology
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
AGM7
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

References

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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

Phosphatidylinositol kinases: phosphoinositide-3-kinase regulatory subunit 1. Last modified on 12/01/2018. Accessed on 24/06/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2503.