Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5295
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoinositide-3-kinase regulatory subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIK3R1
Synonyms (NCBI Gene) Gene synonyms aliases
AGM7, GRB1, IMD36, p85, p85-ALPHA, p85alpha
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AGM7, IMD36
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.1
Summary Summary 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 sub
SNPs SNP 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
miRNA miRNA 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
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
MIRT006724 hsa-miR-376a-3p Luciferase reporter assay, qRT-PCR, Western blot 22684007
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
171833 8979 ENSG00000145675
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
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
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
Tissue specificity 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). {ECO:0000269|PubMed:8628286}.
Sequence
Sequence length 724
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Agammaglobulinemia autosomal agammaglobulinemia GenCC
ACTIVATED PI3K-DELTA SYNDROME activated PI3K-delta syndrome GenCC
Schizophrenia Schizophrenia GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Threatened Associate 32775426
Acquired ichthyosis Associate 36303457
Adenocarcinoma Stimulate 22355357
Adenocarcinoma Associate 25473181, 29845775
Adenocarcinoma Inhibit 33120770
Adenocarcinoma Clear Cell Associate 37697729
Adenocarcinoma Mucinous Associate 33947930
Adenocarcinoma of Lung Associate 19139118, 26023239, 26556867, 28004467, 31436252, 33120770, 34814278, 36688087, 37000102
Adenoma Associate 23578788
Adenomyoepithelioma Associate 29739933