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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
  • Phosphatidylinositol 3-Kinase-Associated P-85 Alpha 3
  • Phosphoinositide-3-Kinase Regulatory Subunit 3
  • PtdIns-3-Kinase Regulatory Subunit P85-Alpha 4
  • PI3-Kinase Regulatory Subunit Alpha 4
  • P85-ALPHA 3
  • IMD36 3
  • AGM7 3
  • P85 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]

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 Endometrial cancer and cGMP-PKG signaling pathway. GO annotations related to this gene include GTP binding and transcription factor binding. An important paralog of this gene is PIK3R3.

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).

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R1 Gene

Genomics for PIK3R1 Gene

Regulatory Elements for PIK3R1 Gene

Enhancers for PIK3R1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIK3R1 on UCSC Golden Path with GeneCards custom track

Promoters for PIK3R1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIK3R1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PIK3R1 gene promoter:

Genomic Location for PIK3R1 Gene

Chromosome:
5
Start:
68,215,720 bp from pter
End:
68,301,821 bp from pter
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 StructureGene 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
    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:
    • 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

    Alternative splice isoforms for PIK3R1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3R1 Gene

Proteomics data for PIK3R1 Gene at MOPED

Post-translational modifications for PIK3R1 Gene

  • 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.
  • Polyubiquitinated in T-cells by CBLB; which does not promote proteasomal degradation but impairs association with CD28 and CD3Z upon T-cell activation.
  • Ubiquitination at Lys 419
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIK3R1 Gene

Domains & Families for PIK3R1 Gene

Gene Families for PIK3R1 Gene

Suggested Antigen Peptide Sequences for PIK3R1 Gene

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.
  • Contains 1 Rho-GAP domain.
  • Contains 2 SH2 domains.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the PI3K p85 subunit family.
genes like me logo Genes that share domains with PIK3R1: view

Function for PIK3R1 Gene

Molecular function for PIK3R1 Gene

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
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).

Gene Ontology (GO) - Molecular Function for PIK3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005159 insulin-like growth factor receptor binding IPI 7541045
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS --
GO:0043559 insulin binding IDA 8440175
GO:0046982 protein heterodimerization activity IEA --
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:

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

Localization for PIK3R1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3R1 Gene COMPARTMENTS Subcellular localization image for PIK3R1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PIK3R1 Gene

Pathways & Interactions for PIK3R1 Gene

SuperPathways for PIK3R1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 IL-7 Signaling Pathways
3 PI3K events in ERBB4 signaling
4 Translation Insulin regulation of translation
5 IL-2 Pathway
genes like me logo Genes that share pathways with PIK3R1: view

Pathways by source for PIK3R1 Gene

SIGNOR curated interactions for PIK3R1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001953 negative regulation of cell-matrix adhesion IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007162 negative regulation of cell adhesion IEA --
genes like me logo Genes that share ontologies with PIK3R1: view

Drugs & Compounds for PIK3R1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoproterenol Approved Pharma Full agonist, Agonist, Target, agonist 20
(1S,6BR,9AS,11R,11BR)-9A,11B-DIMETHYL-1-[(METHYLOXY)METHYL]-3,6,9-TRIOXO-1,6,6B,7,8,9,9A,10,11,11B-DECAHYDRO-3H-FURO[4,3,2-DE]INDENO[4,5-H][2]BENZOPYRAN-11-YL ACETATE Experimental Pharma Target 0
Quercetin Experimental Nutra Antitumor agent, Non-selective PI 3-kinase inhibitor 36
XL147 Investigational Pharma inhibitor PI3K inhibitor,selective and reversible, Kinase Inhibitors, Phosphatidylinositol-3- kinase (PI-3K) inhibitors 0
SF1126 Investigational Pharma inhibitor, Target Kinase Inhibitors 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LY 294002 hydrochloride
934389-88-5
LY 303511
154447-38-8

(5) Tocris Compounds for PIK3R1 Gene

Compound Action Cas Number
740 Y-P Cell-permeable PI 3-kinase activator 1236188-16-1
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
LY 303511 Negative control of LY 294002 (Cat. No. 1130) 154447-38-8
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

Unigene Clusters for PIK3R1 Gene

Phosphoinositide-3-kinase, regulatory subunit 1 (alpha):
Representative Sequences:

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
ECgene alternative splicing isoforms for
PIK3R1

Expression for PIK3R1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for PIK3R1 Gene



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).
genes like me logo Genes that share expression patterns with PIK3R1: view

Protein tissue co-expression partners for PIK3R1 Gene

Primer 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.

Orthologs for PIK3R1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIK3R1 35
  • 91.99 (n)
  • 96.82 (a)
PIK3R1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3R1 35
  • 90.01 (n)
  • 95.72 (a)
PIK3R1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3r1 35
  • 88.26 (n)
  • 95.99 (a)
Pik3r1 16
Pik3r1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIK3R1 35
  • 99.68 (n)
  • 99.86 (a)
PIK3R1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3r1 35
  • 87.85 (n)
  • 94.19 (a)
oppossum
(Monodelphis domestica)
Mammalia PIK3R1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3R1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3R1 35
  • 83.15 (n)
  • 89.09 (a)
PIK3R1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3R1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r1 35
  • 74.43 (n)
  • 82.52 (a)
Str.10862 35
zebrafish
(Danio rerio)
Actinopterygii pik3r1 35
  • 72.15 (n)
  • 79.28 (a)
pik3r1 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pi3K21B 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aap-1 35
  • 47.2 (n)
  • 34.71 (a)
aap-1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for PIK3R1:
  • 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)

Paralogs for PIK3R1 Gene

Paralogs for PIK3R1 Gene

genes like me logo Genes that share paralogs with PIK3R1: view

Variants for PIK3R1 Gene

Sequence variations from dbSNP and Humsavar for PIK3R1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs3730089 - 68,292,320(+) AATAT(A/G)TCCTT upstream-variant-2KB, reference, missense
VAR_010024 -
rs17852841 - 68,293,760(+) TACAT(A/G)AATAT reference, missense
VAR_070221 SHORT syndrome (SHORTS)
VAR_070223 SHORT syndrome (SHORTS)

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

Variant ID Type Subtype PubMed ID
esv28511 CNV Loss 19812545
nsv517504 CNV Loss 19592680
nsv830331 CNV Gain 17160897
esv1041177 CNV Insertion 17803354
nsv462210 CNV Loss 19166990

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)

Relevant External Links for PIK3R1 Gene

HapMap Linkage Disequilibrium report
PIK3R1
Human Gene Mutation Database (HGMD)
PIK3R1

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

Disorders for PIK3R1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PIK3R1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
short syndrome
  • pik3r1-associated syndromic insulin resistance with lipoatrophy
agammaglobulinemia 7, autosomal recessive
  • agammaglobulinemia, autosomal recessive, due to pik3r1 defect
immunodeficiency 36
  • imd36
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
pasli disease
  • immunodeficiency 14
- 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 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.
  • 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.

Relevant External Links for PIK3R1

Genetic Association Database (GAD)
PIK3R1
Human Genome Epidemiology (HuGE) Navigator
PIK3R1
Tumor Gene Database (TGDB):
PIK3R1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3R1
genes like me logo Genes that share disorders with PIK3R1: view

No data available for Genatlas for PIK3R1 Gene

Publications for PIK3R1 Gene

  1. Insulin receptor substrate 1 binds two novel splice variants of the regulatory subunit of phosphatidylinositol 3-kinase in muscle and brain. (PMID: 8628286) Antonetti D.A. … Kahn C.R. (Mol. Cell. Biol. 1996) 3 4 23 67
  2. Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta. (PMID: 1314371) Volinia S. … Waterfield M.D. (Oncogene 1992) 2 3 23
  3. Mal connects TLR2 to PI3Kinase activation and phagocyte polarization. (PMID: 19574958) Santos-Sierra S. … Henneke P. (EMBO J. 2009) 3 23
  4. Disrupted RabGAP function of the p85 subunit of phosphatidylinositol 3-kinase results in cell transformation. (PMID: 18387942) Chamberlain M.D. … Anderson D.H. (J. Biol. Chem. 2008) 2 3
  5. PI3K is critical for the nuclear translocation of IRF-7 and type I IFN production by human plasmacytoid predendritic cells in response to TLR activation. (PMID: 18227218) Guiducci C. … Soumelis V. (J. Exp. Med. 2008) 3 23

Products for PIK3R1 Gene

Sources for PIK3R1 Gene

Content