Gene Gene information from NCBI Gene database.
Entrez ID 5295
Gene name Phosphoinositide-3-kinase regulatory subunit 1
Gene symbol PIK3R1
Synonyms (NCBI Gene)
AGM7GRB1IMD36p85p85-ALPHAp85alpha
Chromosome 5
Chromosome location 5q13.1
Summary 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.
33
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.
1618
miRTarBase ID miRNA Experiments Reference
MIRT004103 hsa-miR-29a-3p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 20943204
MIRT004103 hsa-miR-29a-3p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 20943204
MIRT006724 hsa-miR-376a-3p Luciferase reporter assayqRT-PCRWestern blot 22684007
MIRT006724 hsa-miR-376a-3p Luciferase reporter assayqRT-PCRWestern blot 22684007
MIRT030860 hsa-miR-21-5p Microarray 18591254
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
112
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Intracellular glucose homeostasis IEA
GO:0001678 Process Intracellular glucose homeostasis ISS
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0001953 Process Negative regulation of cell-matrix adhesion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171833 8979 ENSG00000145675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1379
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Agammaglobulinemia 7, autosomal recessive Pathogenic; Likely pathogenic rs367669362, rs1230037871, rs1339790364, rs1289537429, rs2112261986, rs587777709, rs2530954124, rs1389187507, rs2531001766, rs2112253467, rs2531001005, rs2531001159, rs2531010723, rs1057519838, rs1554051075
View all (5 more)
RCV001384927
RCV001877177
RCV001999758
RCV001898266
RCV002031764
RCV001218386
RCV000800719
RCV002863776
RCV002942435
RCV003031557
RCV003051784
RCV003817900
RCV003812711
RCV003805081
RCV000705809
RCV000799708
RCV002527446
RCV000692460
RCV000041966
RCV000803719
RCV000515192
RCV001064934
RCV003770478
CLOVES syndrome Likely pathogenic; Pathogenic rs2112277098, rs1747645807, rs751582616 RCV002221174
RCV002226776
RCV002221158
Colon adenocarcinoma Pathogenic rs1747658551 RCV005866921
Colorectal cancer Likely pathogenic; Pathogenic rs1289537429 RCV001293839
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Activated PI3K-delta syndrome Conflicting classifications of pathogenicity; Uncertain significance rs763574306, rs539374043, rs747881833, rs371778244, rs752891021, rs766076215, rs755043940, rs148059720, rs141981005, rs762818071, rs748784250 RCV005410931
RCV005253894
RCV005401901
RCV005410967
RCV005629993
RCV004801945
RCV005252957
RCV005253111
RCV004813141
RCV004801927
RCV004801938
Cholangiocarcinoma Conflicting classifications of pathogenicity rs201254436 RCV005922408
Glioma susceptibility 1 Uncertain significance; - rs2112278418, rs2112278427, rs2112244267 RCV005920589
RCV005922506
RCV005868439
Malignant tumor of esophagus Conflicting classifications of pathogenicity rs200653607 RCV005900180
Associations from Text MiningDisease associations identified through Pubtator
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