Gene: PIK3R1

Alternate names for this Gene: AGM7|GRB1|IMD36|p85|p85-ALPHA

Gene Summary: Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms.

Gene is located in Chromosome: 5

Location in Chromosome : 5q13.1

Description of this Gene: phosphoinositide-3-kinase regulatory subunit 1

Type of Gene: protein-coding

rs1561299903 in PIK3R1 gene and AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 26974159 2016 PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

PMID 23980586 2014 PIK3R1 mutations in SHORT syndrome.

PMID 28632845 2017 Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

PMID 23810379 2013 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 27766312 2016 Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

PMID 25133428 2014 A human immunodeficiency caused by mutations in the PIK3R1 gene.

PMID 22351933 2012 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

PMID 25488983 2014 Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

PMID 26529633 2016 De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

rs28365970 in PIK3R1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs3730088 in PIK3R1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519757 in PIK3R1 gene and Brain Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519841 in PIK3R1 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519757 in PIK3R1 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs2302976 in PIK3R1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1057519757 in PIK3R1 gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1561299903 in PIK3R1 gene and IMMUNODEFICIENCY 36 PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

PMID 23810379 2013 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

PMID 28632845 2017 Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 26974159 2016 PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

PMID 23980586 2014 PIK3R1 mutations in SHORT syndrome.

PMID 27766312 2016 Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

PMID 26529633 2016 De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

PMID 22351933 2012 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

PMID 25133428 2014 A human immunodeficiency caused by mutations in the PIK3R1 gene.

PMID 25488983 2014 Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

rs34287 in PIK3R1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs1057519841 in PIK3R1 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1445760 in PIK3R1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1057519757 in PIK3R1 gene and Neoplasms PMID 19962457 2010 Somatic mutations in PI3Kalpha: structural basis for enzyme activation and drug design.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 24459181 2014 The structural basis of PI3K cancer mutations: from mechanism to therapy.

rs3756668 in PIK3R1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3756668 in PIK3R1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1561299903 in PIK3R1 gene and SHORT syndrome PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

PMID 23810379 2013 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

PMID 23980586 2014 These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene.

PMID 26974159 2016 PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

PMID 27766312 2016 Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 23810379 2013 Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome).

PMID 28632845 2017 We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation.

PMID 26529633 2016 De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

PMID 22351933 2012 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

PMID 25133428 2014 A human immunodeficiency caused by mutations in the PIK3R1 gene.

PMID 25488983 2014 Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1057519757 in PIK3R1 gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.