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Aliases for PIK3R1 Gene

Aliases for PIK3R1 Gene

  • Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha) 2 3
  • GRB1 3 4 6
  • Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha 3 4
  • PtdIns-3-Kinase Regulatory Subunit Alpha 3 4
  • PI3K Regulatory Subunit Alpha 3 4
  • PI3-Kinase Subunit P85-Alpha 3 4
  • AGM7 3 6
  • Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha) 3
  • Phosphatidylinositol 3-Kinase Regulatory Subunit 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
  • SHORT 6
  • P85 3

External Ids for PIK3R1 Gene

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 (Alpha)) is a Protein Coding gene. Diseases associated with PIK3R1 include agammaglobulinemia 7, autosomal recessive and short syndrome. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein phosphatase binding and 1-phosphatidylinositol 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, PI3Ks) are family of lipid kinases capable of phosphorylating the 3OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation, cell survival, degranulation, vesicular trafficking and cell migration. The PI 3-kinases are grouped into three distinct classes. Class I PI 3-kinases are heteromeric consisting of a regulatory subunit and a 110 kDA catalytic subunits (3 forms in class 1A : alpha-, beta- and delta- and one in class 1B : gamma-). PI 3-kinases p110 alpha- and beta- are ubiquitously expressed whilst p110 delta- expression is associated with leukocytes. Activating mutations in the p110alpha- subunit have recently been discovered in certain types of cancer cell. Class II PI 3-kinases are large homomeric enzymes (C2alpha-, beta- and gamma-) that are sensitive to wortmannin (although less sensitive than Class 1 PI 3-kinases) but are resistant to LY 292002. Class III contains just one member, hVps34p, which is thought to play an important role in both protein sorting and nutrient sensing in concert with the mTOR pathway.

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

Genomic Location for PIK3R1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIK3R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3R1 Gene

Regulatory Elements for PIK3R1 Gene

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

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.

    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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys419

No data available for DME Specific Peptides for PIK3R1 Gene

Domains for PIK3R1 Gene

Gene Families for PIK3R1 Gene

HGNC:
  • SH2D :SH2 domain containing

UniProtKB/Swiss-Prot:

P85A_HUMAN
Domain:
  • The SH3 domain mediates the binding to CBLB, and to HIV-1 Nef:
    • P27986
  • Contains 1 Rho-GAP domain.:
    • P27986
  • Contains 2 SH2 domains.:
    • P27986
  • Contains 1 SH3 domain.:
    • P27986
Family:
  • Belongs to the PI3K p85 subunit family.:
    • P27986
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:0003924 GTPase activity --
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

Animal Models for PIK3R1 Gene

MGI Knock Outs for PIK3R1:

miRNA for PIK3R1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PIK3R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IDA 20348923
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PIK3R1: view

Pathways for PIK3R1 Gene

SuperPathways for PIK3R1 Gene

Superpath Contained pathways
1 Signaling by FGFR
2 IL-9 Signaling Pathways
3 PI-3K cascade
4 IL-2 Pathway
5 Translation Insulin regulation of translation
genes like me logo Genes that share pathways with PIK3R1: view

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:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
genes like me logo Genes that share ontologies with PIK3R1: view

Compounds for PIK3R1 Gene

(28) ApexBio Compounds for PIK3R1 Gene

Compound Action Cas Number
A66 highly specific and selective p110alpha inhibitor [1166227-08-2]
AS-605240 Potent and selective inhibitor of PI 3-kinase beta.[648450-29-7] http://www.apexbt.com/search.php?catalog=A5176
AZD6482 Potent and selective inhibitor of PI 3-kinase beta. [1173900-33-8]
BEZ235 (NVP-BEZ235) imidazoquinoline derivative inhibiting both PI3K and mTOR kinases [915019-65-7]
BKM120 small-molecule inhibitor of pan-Class I PI3K [944396-07-0]
BYL-719 selective PI3Kalfa inhibitor [1217486-61-7]
CAL-101 (Idelalisib, GS-1101) p110delta selective PI3K inhibitor [870281-82-6]
CAL-130 novel PI3K inhibitor. [1431697-74-3]
CUDC-907 dual PI3K and HDAC inhibitor [1339928-25-4]
CZC24832 selective inhibitor of PI3Kgamma [1159824-67-5]
GDC-0941 PI3K inhibitor. [957054-30-7]
IC-87114 selectively inhibits PI3Ksigma [371242-69-2]
IPI-145 (INK1197) orally bioavailable, highly selective and potent small molecule inhibitor of PI3K [1201438-56-3]
LY 294002 selective PI3K inhibitor with a 2.7-fold greater potency than quercetin. [154447-36-6]
NVP-BGT226 suppresses the activation of the AKT/FRAP(mTOR) signal cascade. [1245537-68-1]
PF-04691502 potent and selective dual PI3K/mTOR (FRAP) inhibitor [1013101-36-4]
PI-103 potent inhibitor against recombinant PI3K [371935-74-9]
PIK-75 blocks production of PIP2 and/or PIP3 [372196-77-5]
PIK-90 selectively inhibits different subsets of four class I PI3K [677338-12-4]
PIK-93 novel and potent inhibitor of both PI3Kgamma and PI4KIIIbeta [593960-11-3]
PKI-402 selective, reversible, ATP-competitive, equipotent class I PI3K inhibitor [1173204-81-3]
SAR245409 (XL765) active against class I PI3K. [1349796-36-6]
TG100-115 inhibits PI3Kgamma and -delta [677297-51-7]
TGX-221 [663619-89-4]
VS-5584 (SB2343) all class I PI3K isoforms [1246560-33-7]
XL147 ATP-competitive inhibitor of class I PI3K isoforms. [956958-53-5]
XL765 mixed mTOR/PI3k inhibitor [1123889-87-1]
ZSTK474 binds to the ATP-binding site of Class PI3K and inhibits PI3K activity. [475110-96-4]

(5) Tocris Compounds for PIK3R1 Gene

Compound Action Cas Number
740 Y-P Cell-permeable PI 3-kinase activator [1236188-16-1]
AS 605240 Potent and selective PI 3-kinase gamma (PI3Kgamma) inhibitor [648450-29-7]
CZC 24832 Selective inhibitor of PI 3-Kinase gamma [1159824-67-5]
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK [371935-74-9]
Quercetin Non-selective PI 3-kinase inhibitor [117-39-5]

(2) Drugbank Compounds for PIK3R1 Gene

(69) Novoseek inferred chemical compound relationships for PIK3R1 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 91.9 122
phosphoinositide 86.5 119
tyrosine 78.3 121
rapamycin 70.1 29
phosphotyrosine 69.1 15
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with PIK3R1: view

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 36
  • 99.68 (n)
  • 99.86 (a)
PIK3R1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIK3R1 36
  • 91.99 (n)
  • 96.82 (a)
PIK3R1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3R1 36
  • 90.01 (n)
  • 95.72 (a)
PIK3R1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3r1 36
  • 88.26 (n)
  • 95.99 (a)
Pik3r1 16
Pik3r1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIK3R1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3R1 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3r1 36
  • 87.85 (n)
  • 94.19 (a)
chicken
(Gallus gallus)
Aves PIK3R1 36
  • 83.15 (n)
  • 89.09 (a)
PIK3R1 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3R1 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r1 36
  • 74.43 (n)
  • 82.52 (a)
Str.10862 36
zebrafish
(Danio rerio)
Actinopterygii pik3r1 36
  • 72.15 (n)
  • 79.28 (a)
pik3r1 37
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pi3K21B 37
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aap-1 36
  • 47.2 (n)
  • 34.71 (a)
aap-1 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs9623 -- 68,301,493(-) TGTGC(A/G)TATAT utr-variant-3-prime
rs12755 -- 68,300,033(+) GTATG(A/C)TATTA utr-variant-3-prime
rs34287 -- 68,289,315(+) GGGAA(A/G)AGACA upstream-variant-2KB, intron-variant
rs34300 -- 68,260,417(+) GTGCT(A/G)TGCAT intron-variant
rs34301 -- 68,262,240(+) TAGCT(C/G)TAGTC intron-variant

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

Relevant External Links for PIK3R1 Gene

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

Disorders for PIK3R1 Gene

(2) OMIM Diseases for PIK3R1 Gene (171833)

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.

(46) Novoseek inferred disease relationships for PIK3R1 Gene

Disease -log(P) Hits PubMed IDs
insulin resistance 53.9 21
cancer 45.5 40
breast cancer 40.5 29
insulin sensitivity 40.3 9
tumors 38.8 49

Relevant External Links for PIK3R1

Genetic Association Database (GAD)
PIK3R1
Human Genome Epidemiology (HuGE) Navigator
PIK3R1
Tumor Gene Database (TGDB):
PIK3R1
genes like me logo Genes that share disorders with PIK3R1: view

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
  2. 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 23
  3. Structure of the PI3K SH3 domain and analysis of the SH3 family. (PMID: 7681364) Koyama S. … Schreiber S.L. (Cell 1993) 3 4 23
  4. Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease. (PMID: 12185156) Liolitsa D. … Lovestone S. (J. Neurol. Neurosurg. Psychiatr. 2002) 3 23 49
  5. 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 M.G. (J. Virol. 2002) 3 4 23

Products for PIK3R1 Gene

Sources for PIK3R1 Gene

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