Aliases for PIK3R1 Gene
Aliases for PIK3R1 Gene
- Phosphoinositide-3-Kinase Regulatory Subunit 1 2 3 5
- Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha 3 4
- Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha) 2 3
- 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
- GRB1 3 4
- Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha) 3
External Ids for PIK3R1 Gene
- HGNC: 8979
- Entrez Gene: 5295
- Ensembl: ENSG00000145675
- OMIM: 171833
- UniProtKB: P27986
Previous GeneCards Identifiers for PIK3R1 Gene
- GC05P067677
- GC05P069074
- GC05P067492
- GC05P067538
- GC05P067558
- GC05P064479
- GC05P067511
Summaries 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]
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 ERK Signaling and mTOR Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and transcription factor binding. An important paralog of this gene is ENSG00000268173.
UniProtKB/Swiss-Prot 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).
-
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.
Additional gene information for PIK3R1 Gene
- Monarch Initiative
- Search for PIK3R1 at DataMed
- Search for PIK3R1 at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R1 Gene
Genomics for PIK3R1 Gene
GeneHancer (GH) Regulatory Elements for PIK3R1 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PIK3R1 gene promoter:
-
- AP-1
- CUTL1
Regulatory Element Products
Genomic Locations for PIK3R1 Gene
Genomic Locations for PIK3R1 Gene
- chr5:68,215,720-68,301,821
- (GRCh38/hg38)
- Size:
- 86,102 bases
- Orientation:
- Plus strand
- chr5:67,511,548-67,597,649
- (GRCh37/hg19)
- 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:
-
- 5q13.1 by Entrez Gene
- 5q13.1 by HGNC
- 5q13.1 by Ensembl
PIK3R1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PIK3R1 Gene
Proteins for PIK3R1 Gene
-
Protein details for PIK3R1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P27986-P85A_HUMAN
- Recommended name:
- Phosphatidylinositol 3-kinase regulatory subunit alpha
- Protein Accession:
- P27986
- B3KT19
- D3DWA0
- E7EX19
- Q15747
- Q4VBZ7
- Q53EM6
- Q8IXA2
- Q8N1C5
Protein attributes for PIK3R1 Gene
- Size:
- 724 amino acids
- Molecular mass:
- 83598 Da
- Quaternary structure:
-
- 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). Heterodimer of a regulatory subunit PIK3R1 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD). 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. 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. Interacts with HCV NS5A. 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 herpes simplex virus 1 UL46 and varicella virus ORF12; these interactions activate the PI3K/AKT pathway. Interacts with FAM83B; activates the PI3K/AKT signaling cascade (PubMed:23676467).
Three dimensional structures from OCA and Proteopedia for PIK3R1 Gene
Protein Expression for PIK3R1 Gene
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 isoforms=2, 3, 4, 5419
- Modification sites at PhosphoSitePlus
Other Protein References for PIK3R1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PIK3R1 (PI 3-Kinase p85 alpha)
- Novus Biologicals Antibodies for PIK3R1
-
Abcam antibodies for PIK3R1
- Invitrogen Antibodies for PIK3R1 (AFLGC-PIK3R1)
- GeneTex PIK3R1 Antibody for PIK3R1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIK3R1
- Sino Biological Antibodies for PIK3R1
Protein Products
-
OriGene Purified Proteins for PIK3R1
- Search Origene for MassSpec and Protein Over-expression Lysates for PIK3R1
- Origene Custom Protein Services for PIK3R1
- Search GeneTex for Proteins for PIK3R1
-
Abcam proteins for PIK3R1
Assay Products
-
Abcam assays for PIK3R1
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
Suggested Antigen Peptide Sequences for PIK3R1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P27986UniProtKB/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.
Function for PIK3R1 Gene
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
| 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 |
Phenotypes for PIK3R1 Gene
- MGI mutant phenotypes for PIK3R1:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for PIK3R1:
-
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability after gemcitabine stimulation
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased homologous recombination repair frequency
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Mildly decreased CFP-tsO45G cell surface transport
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for PIK3R1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PIK3R1
-
CRISPR Products
-
OriGene CRISPR knockouts for PIK3R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3R1
- genomics-online: gRNA clones - Search results for available Pik3r1 gene related products
- Applied Biological Materials CRISPR for PIK3R1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3R1
- GenScript: Design CRISPR guide RNA sequences for PIK3R1
miRNA for PIK3R1 Gene
- miRTarBase miRNAs that target PIK3R1
-
- hsa-mir-29a-3p (MIRT004103)
- hsa-mir-376a-3p (MIRT006724)
- hsa-mir-29b-3p (MIRT027237)
- hsa-mir-21-5p (MIRT030860)
- hsa-let-7a-5p (MIRT052505)
- hsa-mir-155-5p (MIRT053013)
- hsa-mir-503-5p (MIRT054427)
- hsa-mir-15a-5p (MIRT314051)
- hsa-mir-16-5p (MIRT314052)
- hsa-mir-15b-5p (MIRT314053)
- hsa-mir-195-5p (MIRT314054)
- hsa-mir-424-5p (MIRT314055)
- hsa-mir-497-5p (MIRT314056)
- hsa-mir-646 (MIRT314057)
- hsa-mir-6838-5p (MIRT314059)
- hsa-mir-448 (MIRT314070)
- hsa-mir-103a-3p (MIRT314097)
- hsa-mir-107 (MIRT314098)
- hsa-mir-190a-3p (MIRT314099)
- hsa-mir-4524a-5p (MIRT314100)
- hsa-mir-5011-5p (MIRT314101)
- hsa-mir-4524b-5p (MIRT314102)
- hsa-mir-221-3p (MIRT438233)
- hsa-mir-1277-5p (MIRT506169)
- hsa-mir-6783-3p (MIRT506170)
- hsa-mir-1343-3p (MIRT506171)
- hsa-mir-6742-3p (MIRT506172)
- hsa-mir-6852-5p (MIRT506173)
- hsa-mir-939-3p (MIRT506174)
- hsa-mir-4793-5p (MIRT506175)
- hsa-mir-3924 (MIRT510966)
- hsa-mir-4789-5p (MIRT510967)
- hsa-mir-466 (MIRT510968)
- hsa-mir-455-5p (MIRT510969)
- hsa-mir-5580-3p (MIRT510970)
- hsa-mir-4643 (MIRT510971)
- hsa-mir-4789-3p (MIRT510972)
- hsa-mir-3941 (MIRT521890)
- hsa-mir-603 (MIRT521891)
- hsa-mir-362-3p (MIRT521892)
- hsa-mir-329-3p (MIRT521893)
- hsa-mir-8485 (MIRT521894)
- hsa-mir-6721-5p (MIRT555603)
- hsa-mir-6860 (MIRT555604)
- hsa-mir-612 (MIRT555605)
- hsa-mir-5189-5p (MIRT555606)
- hsa-mir-3187-5p (MIRT555607)
- hsa-mir-1285-3p (MIRT555608)
- hsa-mir-542-3p (MIRT732229)
- hsa-mir-218-1-3p (MIRT733065)
- hsa-mir-143-3p (MIRT733439)
- hsa-mir-128-3p (MIRT733521)
- hsa-mir-487a-3p (MIRT734707)
- hsa-mir-486-5p (MIRT735338)
- hsa-mir-1202 (MIRT735959)
- hsa-mir-126-3p (MIRT736682)
- hsa-mir-23a-3p (MIRT739185)
- hsa-mir-23b-3p (MIRT739195)
- hsa-mir-302a-5p (MIRT739636)
- hsa-mir-3658 (MIRT741944)
- hsa-mir-3972 (MIRT743194)
- hsa-mir-4317 (MIRT744014)
- hsa-mir-4755-3p (MIRT748369)
- hsa-mir-5006-5p (MIRT749419)
- hsa-mir-5007-5p (MIRT749430)
- hsa-mir-7856-5p (MIRT759967)
- hsa-mir-924 (MIRT760511)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3R1
- Browse OriGene Inhibitory RNA Products For PIK3R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R1
- genomics-online: shRNA clones - Search results for available Pik3r1 gene related products
Clone Products
-
OriGene ORF clones in human for PIK3R1
- RC210544
- RC210544L1
- RC210544L2
- RC210544L3
- RC210544L4
- RC214266
- RC214266L1
- RC214266L2
- RC214266L3
- RC214266L4
- RC220141
- RC220141L1
- RC220141L2
- RC220141L3
- RC220141L4
- RC233876
- RC510544
- RG210544
- RG214266
- RG220141
- RG233876
- RC210544L1V
- RC210544L2V
- RC210544L3V
- RC210544L4V
- RC214266L1V
- RC214266L2V
- RC214266L3V
- RC214266L4V
- RC220141L1V
- RC220141L2V
- RC220141L3V
- RC220141L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PIK3R1
- Addgene plasmids for PIK3R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3R1
- genomics-online: cdna clones - Search results for available Pik3r1 gene related products
- orf clones - Search results for available Pik3r1 gene related products
- Applied Biological Materials Clones for PIK3R1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PIK3R1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIK3R1 Gene
Localization for PIK3R1 Gene
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Cytosol (2)
| 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 | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIK3R1 Gene
Pathways & Interactions for PIK3R1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
.92
|
|
| 2 | IL-2 Pathway |
.59
|
.48
.43
.36
.34
|
| 3 | Downstream signaling of activated FGFR2 | ||
| 4 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
.36
|
|
| 5 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
Pathways by source for PIK3R1 Gene
10 Sino Biological pathways for PIK3R1 Gene
1 GeneTex pathway for PIK3R1 Gene
101 BioSystems pathways for PIK3R1 Gene
106 Reactome pathways for PIK3R1 Gene
3 PharmGKB pathways for PIK3R1 Gene
85 KEGG pathways for PIK3R1 Gene
67 GeneGo (Thomson Reuters) pathways for PIK3R1 Gene
18 R&D Systems pathways for PIK3R1 Gene
- Adipokines and Insulin Signaling Pathways
- Akt Signaling Pathway
- Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways
9 Tocris pathways for PIK3R1 Gene
131 Qiagen pathways for PIK3R1 Gene
1 Cell Signaling Technology pathway for PIK3R1 Gene
Interacting Proteins for PIK3R1 Gene
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for PIK3R1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Isoproterenol | Approved, Investigational | Pharma | Full agonist, Agonist, Target, agonist | 24 | ||
| Everolimus | Approved | Pharma | mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors | 2011 | ||
| 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 | Nutra | Antitumor agent, Non-selective PI 3-kinase inhibitor | 42 |
| 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 |
Drug Products
Transcripts for PIK3R1 Gene
mRNA/cDNA for PIK3R1 Gene
- (8) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (295) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000521381 7011 bps (uc003jva.4)
- ENST00000521657 3891 bps (uc063edr.1)
- ENST00000517643 586 bps (uc063eds.1)
- ENST00000517412 865 bps (uc063edt.1)
- ENST00000520675 395 bps (uc063edu.1)
Unigene Clusters for PIK3R1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PIK3R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIK3R1
- genomics-online: gRNA clones - Search results for available Pik3r1 gene related products
- Applied Biological Materials CRISPR for PIK3R1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIK3R1
- GenScript: Design CRISPR guide RNA sequences for PIK3R1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIK3R1
- Browse OriGene Inhibitory RNA Products For PIK3R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3R1
- genomics-online: shRNA clones - Search results for available Pik3r1 gene related products
Clone Products
-
OriGene ORF clones in human for PIK3R1
- RC210544
- RC210544L1
- RC210544L2
- RC210544L3
- RC210544L4
- RC214266
- RC214266L1
- RC214266L2
- RC214266L3
- RC214266L4
- RC220141
- RC220141L1
- RC220141L2
- RC220141L3
- RC220141L4
- RC233876
- RC510544
- RG210544
- RG214266
- RG220141
- RG233876
- RC210544L1V
- RC210544L2V
- RC210544L3V
- RC210544L4V
- RC214266L1V
- RC214266L2V
- RC214266L3V
- RC214266L4V
- RC220141L1V
- RC220141L2V
- RC220141L3V
- RC220141L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PIK3R1
- Addgene plasmids for PIK3R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIK3R1
- genomics-online: cdna clones - Search results for available Pik3r1 gene related products
- orf clones - Search results for available Pik3r1 gene related products
- Applied Biological Materials Clones for PIK3R1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of PIK3R1 Gene:
PIK3R1SOURCE GeneReport for Unigene cluster for PIK3R1 Gene:
Hs.132225mRNA 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(3.2)
- Heart(2.6)
- Kidney(2.4)
- Blood(2.3)
- Intestine(2.3)
- Lung(2.3)
- Bone marrow(2.2)
- Spleen(2.1)
- Skin(2)
- Thyroid gland(2)
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
Primer Products
-
OriGene qPCR primer pairs for PIK3R1
-
OriGene qPCR primer pairs and template standards for PIK3R1
- genomics-online: primer clones - Search results for available Pik3r1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIK3R1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PIK3R1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PIK3R1 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PIK3R1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pik3r1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pik3r1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PIK3R1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PIK3R1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PIK3R1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pik3r1 33 |
|
||
| Str.10862 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | pik3r1 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Pi3K21B 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | aap-1 34 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for PIK3R1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
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
Variants for PIK3R1 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519757 | likely-pathogenic, Neoplasm, Malignant melanoma of skin, Neoplasm of brain, Glioblastoma, Uterine Carcinosarcoma | 68,293,310(+) | G/A/C | coding_sequence_variant, missense_variant | |
| rs1057519838 | likely-pathogenic, Neoplasm | 68,293,790(+) | C/T | coding_sequence_variant, stop_gained | |
| rs1057519839 | likely-pathogenic, Neoplasm | 68,295,257(+) | G/T | coding_sequence_variant, missense_variant | |
| rs1057519840 | likely-pathogenic, Neoplasm | 68,295,257(+) | GACAAACGTATGAACAGC/ | coding_sequence_variant, inframe_deletion | |
| rs1057519841 | likely-pathogenic, Malignant neoplasm of body of uterus, Colorectal Neoplasms, Neoplasm, Malignant melanoma of skin, Neoplasm of brain | 68,295,269(+) | A/G | coding_sequence_variant, missense_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R1 Gene
Disorders for PIK3R1 Gene
(24) MalaCards diseases for PIK3R1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| short syndrome |
|
|
| agammaglobulinemia 7, autosomal recessive |
|
|
| immunodeficiency 36 |
|
|
| agammaglobulinemia, non-bruton type |
|
|
| immunodeficiency 14 |
|
|
Search PIK3R1 in MalaCards
View complete list of genes associated with diseases
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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for PIK3R1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PIK3R1 Gene
Publications for PIK3R1 Gene
- 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 58
- Association analysis of the variant in the regulatory subunit of phosphoinositide 3-kinase (p85alpha) with Type 2 diabetes mellitus and hypertension in the Chinese Han population. (PMID: 15910625) Chen S … Gu D (Diabetic medicine : a journal of the British Diabetic Association 2005) 3 22 44 58
- Large-scale investigation of genomic markers for severe periodontitis. (PMID: 15490304) Suzuki A … Kamoi K (Odontology 2004) 3 22 44 58
- Subversion of cell signaling pathways by hepatitis C virus nonstructural 5A protein via interaction with Grb2 and P85 phosphatidylinositol 3-kinase. (PMID: 12186904) He Y … Katze MG (Journal of virology 2002) 3 4 22 58
- Identification of a common amino acid polymorphism in the p85alpha regulatory subunit of phosphatidylinositol 3-kinase: effects on glucose disappearance constant, glucose effectiveness, and the insulin sensitivity index. (PMID: 9032108) Hansen T … Pedersen O (Diabetes 1997) 3 4 22 58
Products for PIK3R1 Gene
- R&D Systems Antibodies for PIK3R1 (PI 3-Kinase p85 alpha)
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- RC210544
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