phosphoinositide-3-kinase regulatory subunit 1 | Phosphatidylinositol kinases | IUPHAR Guide to IMMUNOPHARMACOLOGY

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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: ON :     phosphoinositide-3-kinase regulatory subunit 1 has curated data in GtoImmuPdb

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
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 20/01/2019. IUPHAR/BPS Guide to PHARMACOLOGY, http://guidetoimmunopharmacology.org/GRAC/ObjectDisplayForward?objectId=2503.