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PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5295
Gene nameGene Name - the full gene name approved by the HGNC.
Phosphoinositide-3-kinase regulatory subunit 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PIK3R1
SynonymsGene synonyms aliases
AGM7, GRB1, IMD36, p85, p85-ALPHA
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.1
SummarySummary of gene provided in NCBI Entrez 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]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs149905863 A>C,G Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs397509384 G>A Pathogenic Genic upstream transcript variant, coding sequence variant, stop gained
rs397514046 ATT>- Pathogenic, uncertain-significance Coding sequence variant, inframe deletion
rs397514047 G>A Pathogenic Coding sequence variant, missense variant
rs397515453 C>T Pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004103 hsa-miR-29a-3p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20943204
MIRT006724 hsa-miR-376a-3p Luciferase reporter assay, qRT-PCR, Western blot 22684007
MIRT027237 hsa-miR-29b-3p Western blot 24147037
MIRT027237 hsa-miR-29b-3p Flow, Luciferase reporter assay, qRT-PCR, Western blot, ChIP-PCR 25356754
MIRT030860 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Cellular glucose homeostasis ISS
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0001953 Process Negative regulation of cell-matrix adhesion IEA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity ISS
GO:0005158 Function Insulin receptor binding IPI 7537849
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P27986
Protein name Phosphatidylinositol 3-kinase regulatory subunit alpha (PI3-kinase regulatory subunit alpha) (PI3K regulatory subunit alpha) (PtdIns-3-kinase regulatory subunit alpha) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha) (PI3-kinase subunit p85-alpha) (PtdIns-3-kinase regulatory subunit p85-alpha)
Protein 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).
PDB 1A0N , 1AZG , 1H9O , 1PBW , 1PHT , 1PIC , 1PKS , 1PKT , 2IUG , 2IUH , 2IUI , 2RD0 , 2V1Y , 3HHM , 3HIZ , 3I5R , 3I5S , 4A55 , 4JPS , 4L1B , 4L23 , 4L2Y , 4OVU , 4OVV , 4WAF , 4YKN , 4ZOP , 5AUL , 5FI4 , 5GJI , 5ITD , 5M6U , 5SW8 , 5SWG , 5SWO , 5SWP , 5SWR , 5SWT , 5SX8 , 5SX9 , 5SXA , 5SXB , 5SXC , 5SXD , 5SXE , 5SXF , 5SXI , 5SXJ , 5SXK , 5UBT , 5UK8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00620 RhoGAP
129 282
RhoGAP domain
Domain
PF00017 SH2
333 408
SH2 domain
Domain
PF16454 PI3K_P85_iSH2
431 599
Phosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain
Domain
PF00017 SH2
624 698
SH2 domain
Domain
Sequence
Sequence length 724
Interactions View interactions

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