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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  |
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| 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 |
| 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 |
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| Alphafold | P27986 (Hs), P26450 (Mm), Q63787 (Rn) |
| CATH/Gene3D | 3.30.505.10 |
| ChEMBL Target | CHEMBL2506 (Hs), CHEMBL4106168 (Mm), CHEMBL4106132 (Mm), CHEMBL4106142 (Mm) |
| Ensembl Gene | ENSG00000145675 (Hs), ENSMUSG00000041417 (Mm), ENSRNOG00000018903 (Rn) |
| Entrez Gene | 5295 (Hs), 18708 (Mm), 25513 (Rn) |
| Human Protein Atlas | ENSG00000145675 (Hs) |
| KEGG Gene | hsa:5295 (Hs), mmu:18708 (Mm), rno:25513 (Rn) |
| OMIM | 171833 (Hs) |
| Pharos | P27986 (Hs) |
| RefSeq Nucleotide | NM_181523 (Hs), NM_001024955 (Mm), NM_013005 (Rn) |
| RefSeq Protein | NP_852664 (Hs), NP_001020126 (Mm), NP_037137 (Rn) |
| UniProtKB | P27986 (Hs), P26450 (Mm), Q63787 (Rn) |
| Wikipedia | PIK3R1 (Hs) |
| 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 | ||
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| Clinically-Relevant Mutations and Pathophysiology
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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]
