PIK3R1 Gene (Protein Coding)

Phosphoinositide-3-Kinase Regulatory Subunit 1

GC05P068215
GIFtS:
51
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 ... See more...

Aliases for PIK3R1 Gene

Aliases for PIK3R1 Gene

  • Phosphoinositide-3-Kinase Regulatory Subunit 1 2 3 5
  • GRB1 2 3 4
  • Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha 3 4
  • Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha) 2 3
  • Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha 3 4
  • Phosphoinositide-3-Kinase Regulatory Subunit Alpha 2 3
  • PtdIns-3-Kinase Regulatory Subunit Alpha 3 4
  • PI3K Regulatory Subunit Alpha 3 4
  • PI3-Kinase Subunit P85-Alpha 3 4
  • P85-ALPHA 2 3
  • P85 2 3
  • Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha) 3
  • Phosphatidylinositol 3-Kinase-Associated P-85 Alpha 3
  • PtdIns-3-Kinase Regulatory Subunit P85-Alpha 4
  • PI3-Kinase Regulatory Subunit Alpha 4
  • PIK3R1 5
  • IMD36 3
  • AGM7 3

External Ids for PIK3R1 Gene

Previous GeneCards Identifiers for PIK3R1 Gene

  • GC05P067677
  • GC05P069074
  • GC05P067492
  • GC05P067538
  • GC05P067558
  • GC05P064479
  • GC05P067511

Summaries for PIK3R1 Gene

Entrez Gene Summary for PIK3R1 Gene

  • 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. [provided by RefSeq, Jun 2011]

CIViC Summary for PIK3R1 Gene

GeneCards Summary for PIK3R1 Gene

PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PIK3R1 include Short Syndrome and Agammaglobulinemia 7, Autosomal Recessive. Among its related pathways are Immune response IL-23 signaling pathway and IL-6 signaling pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and transcription factor binding. An important paralog of this gene is PIK3R2.

UniProtKB/Swiss-Prot Summary for PIK3R1 Gene

  • Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923).

Tocris Summary for PIK3R1 Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3R1 Gene

Additional gene information for PIK3R1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIK3R1 Gene

Genomics for PIK3R1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PIK3R1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIK3R1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIK3R1

Top Transcription factor binding sites by QIAGEN in the PIK3R1 gene promoter:
  • AP-1
  • CUTL1

Genomic Locations for PIK3R1 Gene

Latest Assembly
chr5:68,215,737-68,301,821
(GRCh38/hg38)
Size:
86,085 bases
Orientation:
Plus strand

Previous Assembly
chr5:67,511,584-67,597,649
(GRCh37/hg19 by Entrez Gene)
Size:
86,066 bases
Orientation:
Plus strand

chr5:67,511,548-67,597,649
(GRCh37/hg19 by Ensembl)
Size:
86,102 bases
Orientation:
Plus strand

Genomic View for PIK3R1 Gene

Genes around PIK3R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3R1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PIK3R1 Gene

Proteins for PIK3R1 Gene

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  • Protein details for PIK3R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27986-P85A_HUMAN
    Recommended name:
    Phosphatidylinositol 3-kinase regulatory subunit alpha
    Protein Accession:
    P27986
    Secondary Accessions:
    • B3KT19
    • D3DWA0
    • E7EX19
    • Q15747
    • Q4VBZ7
    • Q53EM6
    • Q8IXA2
    • Q8N1C5

    Protein attributes for PIK3R1 Gene

    Size:
    724 amino acids
    Molecular mass:
    83598 Da
    Quaternary structure:
    • Heterodimer of a regulatory subunit PIK3R1 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD). Interacts (via SH2 domains) with CCDC88A/GIV (tyrosine-phosphorylated form); the interaction enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290). Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated). Interacts with PIK3R2; the interaction is dissociated in an insulin-dependent manner (By similarity). Interacts with XBP1 isoform 2; the interaction is direct and induces translocation of XBP1 isoform 2 into the nucleus in a ER stress- and/or insulin-dependent but PI3K-independent manner (PubMed:20348923). Interacts with FER. Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated). Interacts with PTK2/FAK1 (By similarity). Interacts with phosphorylated TOM1L1. Interacts with phosphorylated LIME1 upon TCR and/or BCR activation. Interacts with SOCS7. Interacts with RUFY3. Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated). Interacts with LYN (via SH3 domain); this enhances enzyme activity (By similarity). Interacts with phosphorylated LAT, LAX1 and TRAT1 upon TCR activation. Interacts with CBLB. The SH2 domains interact with the YTHM motif of phosphorylated INSR in vitro. Also interacts with tyrosine-phosphorylated IGF1R in vitro. Interacts with CD28 and CD3Z upon T-cell activation. Interacts with IRS1 and phosphorylated IRS4, as well as with NISCH and HCST. Interacts with FASLG, KIT and BCR. Interacts with AXL, FGFR1, FGFR2, FGFR3 and FGFR4 (phosphorylated). Interacts with FGR and HCK. Interacts with PDGFRA (tyrosine phosphorylated) and PDGFRB (tyrosine phosphorylated). Interacts with ERBB4 (phosphorylated). Interacts with NTRK1 (phosphorylated upon ligand-binding). Interacts with FAM83B; activates the PI3K/AKT signaling cascade (PubMed:23676467). Interacts with APPL1 and APPL2 (By similarity). Interacts with SRC (PubMed:28903391). Interacts with ALOX5; this interaction bridges ALOX5 with CD40 after CD40 ligation in B cells and leads to the production of reactive oxygen species (ROS) (PubMed:21200133).
    • (Microbial infection) Interacts with HIV-1 Nef to activate the Nef associated p21-activated kinase (PAK). This interaction depends on the C-terminus of both proteins and leads to increased production of HIV.
    • (Microbial infection) Interacts with HCV NS5A.
    • (Microbial infection) Interacts with herpes simplex virus 1 UL46; this interaction activates the PI3K/AKT pathway.
    • (Microbial infection) Interacts with herpes simplex virus 1 UL46 and varicella virus ORF12; this interaction activates the PI3K/AKT pathway.

    Three dimensional structures from OCA and Proteopedia for PIK3R1 Gene

    Alternative splice isoforms for PIK3R1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3R1 Gene

Protein Expression for PIK3R1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PIK3R1 Gene

  • Polyubiquitinated in T-cells by CBLB; which does not promote proteasomal degradation but impairs association with CD28 and CD3Z upon T-cell activation.
  • Phosphorylated. Tyrosine phosphorylated in response to signaling by FGFR1, FGFR2, FGFR3 and FGFR4. Phosphorylated by CSF1R. Phosphorylated by ERBB4. Phosphorylated on tyrosine residues by TEK/TIE2. Dephosphorylated by PTPRJ. Phosphorylated by PIK3CA at Ser-608; phosphorylation is stimulated by insulin and PDGF. The relevance of phosphorylation by PIK3CA is however unclear (By similarity). Phosphorylated in response to KIT and KITLG/SCF. Phosphorylated by FGR.
  • Ubiquitination at Lys419
  • Modification sites at PhosphoSitePlus

Other Protein References for PIK3R1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for PIK3R1 Gene

Domains & Families for PIK3R1 Gene

Gene Families for PIK3R1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PIK3R1 Gene

InterPro:
Blocks:
  • SH2 domain signature
  • RhoGAP domain
  • PI3 kinase P85 regulatory subunit signature

Suggested Antigen Peptide Sequences for PIK3R1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha (P85A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27986

UniProtKB/Swiss-Prot:

P85A_HUMAN :
  • The SH3 domain mediates the binding to CBLB, and to HIV-1 Nef.
  • Belongs to the PI3K p85 subunit family.
Domain:
  • The SH3 domain mediates the binding to CBLB, and to HIV-1 Nef.
Family:
  • Belongs to the PI3K p85 subunit family.
genes like me logo Genes that share domains with PIK3R1: view

Function for PIK3R1 Gene

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Molecular function for PIK3R1 Gene

UniProtKB/Swiss-Prot Function:
Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923).
GENATLAS Biochemistry:
phosphatidylinositol 3-kinase (p85 alpha),regulatory subunit,class IA adaptor molecule associating 110-120kDa catalytic subunits,interacting with tyrosine kinase (signal transduction),interacting with inositol polyphosphatase 4-phosphatase and inositol polyphosphatase 5-phosphatase forming complex with SHIP (INPP5D) and SHP2 (PTPN11),expressed in B and T cells,also interacting with IRS1 and playing a potential role in glucose homeostasis

Phenotypes From GWAS Catalog for PIK3R1 Gene

Gene Ontology (GO) - Molecular Function for PIK3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 20624904
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity ISS --
GO:0005158 insulin receptor binding IPI 7537849
GO:0005159 insulin-like growth factor receptor binding IPI 7541045
GO:0005168 neurotrophin TRKA receptor binding IPI 15488758
genes like me logo Genes that share ontologies with PIK3R1: view
genes like me logo Genes that share phenotypes with PIK3R1: view

Human Phenotype Ontology for PIK3R1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIK3R1 Gene

MGI Knock Outs for PIK3R1:

Animal Models for research

miRNA for PIK3R1 Gene

miRTarBase miRNAs that target PIK3R1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIK3R1 Gene

Localization for PIK3R1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3R1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
endoplasmic reticulum 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IDA 20348923
GO:0005801 cis-Golgi network IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PIK3R1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIK3R1 Gene

Pathways & Interactions for PIK3R1 Gene

PathCards logo

SuperPathways for PIK3R1 Gene

SuperPathway Contained pathways
1 RET signaling
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
G alpha (q) signalling events
.43
2 IL-2 Pathway
ErbB Family Pathway
.59
ErbB4 Pathway
.59
Prolactin Signaling
.54
Thrombopoietin Pathway
.51
Growth Hormone Signaling
.49
ErbB2-ErbB3 Heterodimers
.49
IL-2 Pathway
.48
LPS Stimulated MAPK Signaling
.47
TREM1 Pathway
.43
HMGB1 Pathway
.36
PI3K Signaling in B-Lymphocyte
.35
IL-4 Pathway
.34
3 Downstream signaling of activated FGFR2
Downstream signaling of activated FGFR3
.88
Signaling by FGFR3 in disease
.88
Signaling by FGFR3 point mutants in cancer
.88
Downstream signaling of activated FGFR2
.83
Downstream signaling of activated FGFR4
.81
PI-3K cascade-FGFR2
.77
PI-3K cascade-FGFR1
.76
Downstream signaling of activated FGFR1
.74
PI-3K cascade-FGFR3
.01
PI-3K cascade-FGFR4
.01
Signaling by FGFR3 fusions in cancer
.01
Signaling by FGFR4 in disease
.01
4 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
IL-21 Signaling Pathways
.90
IL-7 Signaling Pathways
.90
IL-9 Signaling Pathways
.90
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.90
IL-15 Signaling Pathways
.88
IL-2 Signaling Pathways
.88
IL-4 Signaling Pathways
.84
Immune response IL-9 signaling pathway
.42
Development Thrombopoietin-regulated cell processes
.38
IL-9 Pathway
.36
Adipokines and Insulin Signaling Pathways
.34
5 Regulation of lipid metabolism Insulin signaling-generic cascades
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF2 activity
.47
Translation Regulation of EIF4F activity
.44
Development CNTF receptor signaling
.43
Cell adhesion PLAU signaling
.35
Development Growth hormone signaling via PI3K/AKT and MAPK cascades
.34
Insulin signaling pathway
.32
ErbB2/ErbB3 signaling events
.31
genes like me logo Genes that share pathways with PIK3R1: view

Pathways by source for PIK3R1 Gene

67 GeneGo (Thomson Reuters) pathways for PIK3R1 Gene
  • Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
  • Apoptosis and survival BAD phosphorylation
  • Apoptosis and survival NGF signaling pathway
  • Apoptosis and survival Role of CDK5 in neuronal death and survival
  • Cell adhesion PLAU signaling
131 Qiagen pathways for PIK3R1 Gene
  • 14-3-3 Induced Apoptosis
  • 14-3-3 Induced Intracellular Signaling
  • Activation of PKC through GPCR
  • Akt Signaling
  • Aldosterone Signaling in Epithelial Cells
1 Cell Signaling Technology pathway for PIK3R1 Gene
1 GeneTex pathway for PIK3R1 Gene

SIGNOR curated interactions for PIK3R1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis ISS --
GO:0001953 negative regulation of cell-matrix adhesion IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006606 protein import into nucleus IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
genes like me logo Genes that share ontologies with PIK3R1: view

Drugs & Compounds for PIK3R1 Gene

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(84) Drugs for PIK3R1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoproterenol Approved, Investigational Pharma Target, agonist 31
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1050
Wortmannin Experimental Pharma Target PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
Quercetin Experimental, Investigational Pharma Antitumor agent, Non-selective PI 3-kinase inhibitor 68

(29) Additional Compounds for PIK3R1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LY 294002 hydrochloride
934389-88-5

(5) Tocris Compounds for PIK3R1 Gene

Compound Action Cas Number
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4
Quercetin Non-selective PI 3-kinase inhibitor 117-39-5
Wortmannin Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 19545-26-7

(13) ApexBio Compounds for PIK3R1 Gene

Compound Action Cas Number
A66 P110α inhibitor 1166227-08-2
AS-605240 Potent and selective PI 3-Kγ inhibitor 648450-29-7
BEZ235 Tosylate MTOR/P13K inhibitor 1028385-32-1
GSK2636771 PIK3 inhibitor 1372540-25-4
HS-173 1276110-06-5
IC-87114 PI3Kδ inhibitor 371242-69-2
IPI-145 (INK1197) PI3K-δ/PI3K-γ inhibitor 1201438-56-3
LY 294002 Potent PI3K inhibitor 154447-36-6
PI-3065 P110δkinase inhibitor 955977-50-1
SAR245409 (XL765) mTOR/PI3K inhibitor 1349796-36-6
TG100-115 PI3Kγ/PI3Kδ inhibitor 677297-51-7
TG100713 925705-73-3
XL147 PI3K inhibitor,selective and reversible 956958-53-5
genes like me logo Genes that share compounds with PIK3R1: view

Transcripts for PIK3R1 Gene

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mRNA/cDNA for PIK3R1 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R1

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Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5:
SP6: - - - - - -
SP7: -
SP8: - - - -
SP9: - -

ExUns: 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PIK3R1 Gene

GeneLoc Exon Structure for
PIK3R1

Expression for PIK3R1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIK3R1 Gene

mRNA expression in normal human tissues for PIK3R1 Gene
mRNA expression by BioGPS for PIK3R1 GenemRNA expression by GTEx for PIK3R1 Gene

Protein differential expression in normal tissues from HIPED for PIK3R1 Gene

This gene is overexpressed in Lymph node (16.2), Peripheral blood mononuclear cells (15.1), and CD8 Tcells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIK3R1 Gene



Protein tissue co-expression partners for PIK3R1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIK3R1

SOURCE GeneReport for Unigene cluster for PIK3R1 Gene:

Hs.132225

mRNA Expression by UniProt/SwissProt for PIK3R1 Gene:

P27986-P85A_HUMAN
Tissue specificity: Isoform 2 is expressed in skeletal muscle and brain, and at lower levels in kidney and cardiac muscle. Isoform 2 and isoform 4 are present in skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for PIK3R1 Gene

  • Nervous system(5)
  • Muscle(4.6)
  • Liver(3.6)
  • Heart(3.1)
  • Kidney(3.1)
  • Spleen(3)
  • Lung(2.9)
  • Intestine(2.9)
  • Bone marrow(2.8)
  • Blood(2.7)
  • Skin(2.7)
  • Lymph node(2.6)
  • Thyroid gland(2.5)
  • Adrenal gland(2.3)
  • Pancreas(2.2)
  • Eye(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3R1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • sinus
  • skull
  • tooth
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • rectum
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PIK3R1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PIK3R1 Gene

Orthologs for PIK3R1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3R1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PIK3R1 29 30
  • 99.68 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PIK3R1 29 30
  • 91.99 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PIK3R1 29 30
  • 90.01 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PIK3R1 30
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pik3r1 29 16 30
  • 88.26 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pik3r1 29
  • 87.85 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia PIK3R1 30
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PIK3R1 29 30
  • 83.15 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PIK3R1 30
  • 87 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pik3r1 29
  • 74.43 (n)
Str.10862 29
Zebrafish
(Danio rerio)
 Actinopterygii pik3r1 29 30
  • 72.15 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Pi3K21B 30
  • 28 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea aap-1 29 30
  • 47.2 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 25 (a)
 OneToMany
Species where no ortholog for PIK3R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PIK3R1 Gene

ENSEMBL:
Gene Tree for PIK3R1 (if available)
TreeFam:
Gene Tree for PIK3R1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIK3R1: view image
Alliance of Genome Resources:
Additional Orthologs for PIK3R1

Paralogs for PIK3R1 Gene

Paralogs for PIK3R1 Gene

(6) SIMAP similar genes for PIK3R1 Gene using alignment to 9 proteins:

  • P85A_HUMAN
  • E5RGI8_HUMAN
  • E5RHI0_HUMAN
  • E5RJY0_HUMAN
  • E5RK66_HUMAN
  • H0YB27_HUMAN
  • H0YBC2_HUMAN
  • J7GU64_HUMAN
  • J7GXU7_HUMAN
genes like me logo Genes that share paralogs with PIK3R1: view

Variants for PIK3R1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIK3R1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1001790 Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 68,279,671(+) T/A
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln) 		MISSENSE
1001869 Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 68,279,605(+) C/T
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile) 		MISSENSE
1001949 Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 68,296,284(+) A/T
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val) 		MISSENSE
1002218 Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 68,227,013(+) A/G
NM_181523.3(PIK3R1):c.334+4A>G 		INTRON
1002961 Uncertain Significance: SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 68,293,444(+) G/A
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIK3R1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PIK3R1 Gene

Variant ID Type Subtype PubMed ID
esv1041177 CNV insertion 17803354
esv28511 CNV loss 19812545
nsv1078972 CNV insertion 25765185
nsv1120507 CNV tandem duplication 24896259
nsv1137004 CNV deletion 24896259
nsv462210 CNV loss 19166990
nsv517504 CNV loss 19592680
nsv598411 CNV gain 21841781
nsv598412 CNV loss 21841781
nsv830331 CNV gain 17160897
nsv950076 CNV duplication 24416366
nsv950077 CNV duplication 24416366

Variation tolerance for PIK3R1 Gene

Residual Variation Intolerance Score: 5.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.50; 85.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIK3R1 Gene

Human Gene Mutation Database (HGMD)
PIK3R1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3R1
Leiden Open Variation Database (LOVD)
PIK3R1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R1 Gene

Disorders for PIK3R1 Gene

MalaCards: The human disease database

(46) MalaCards diseases for PIK3R1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
short syndrome
  • short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay
agammaglobulinemia 7, autosomal recessive
  • agm7
immunodeficiency 36
  • imd36
immunodeficiency 14
  • imd14
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

P85A_HUMAN
  • Agammaglobulinemia 7, autosomal recessive (AGM7) [MIM:615214]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269 PubMed:22351933}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • SHORT syndrome (SHORTS) [MIM:269880]: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. {ECO:0000269 PubMed:23810378, ECO:0000269 PubMed:23810379, ECO:0000269 PubMed:23810382}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Immunodeficiency 36 (IMD36) [MIM:616005]: A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections. {ECO:0000269 PubMed:25133428}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PIK3R1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PIK3R1: view

No data available for Genatlas for PIK3R1 Gene

Publications for PIK3R1 Gene

  1. A human immunodeficiency caused by mutations in the PIK3R1 gene. (PMID: 25133428) Deau MC … Kracker S (The Journal of clinical investigation 2014) 3 4 72
  2. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (PMID: 23810379) Chudasama KK … Njølstad PR (American journal of human genetics 2013) 3 4 72
  3. Mutations in PIK3R1 cause SHORT syndrome. (PMID: 23810382) Dyment DA … Innes AM (American journal of human genetics 2013) 3 4 72
  4. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. (PMID: 23810378) Thauvin-Robinet C … Rivière JB (American journal of human genetics 2013) 3 4 72
  5. A frequent kinase domain mutation that changes the interaction between PI3Kalpha and the membrane. (PMID: 19805105) Mandelker D … Amzel LM (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22

ExternalLinks

View latest publications for PIK3R1 gene in Mastermind

Products for PIK3R1 Gene