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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
61
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (18 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLOVES syndrome Likely pathogenic; Pathogenic rs2112277098, rs1747645807, rs751582616 RCV002221174
RCV002226776
RCV002221158
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma Pathogenic rs1747658551 RCV005866921
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer Likely pathogenic; Pathogenic rs1289537429 RCV001293839
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Activated PI3K-delta syndrome Conflicting classifications of pathogenicity; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL AGAMMAGLOBULINEMIA GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME ORPHANET_DG 25133428
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Activated PI3K-delta syndrome ACTIVATED PI3K-DELTA SYNDROME Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME BEFREE 27116393, 27616589, 28167755
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Adenocarcinoma Adenocarcinoma BEFREE 1310887
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer CGI_DG
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 21077741
★☆☆☆☆
Found in Text Mining only
African Burkitt`s lymphoma African Burkitt`s Lymphoma CTD_human_DG 23143597
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 22351933
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 25133428 Associate
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 25488983
★☆☆☆☆
Found in Text Mining only