PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
Gene ID: 5295, updated on 14-Nov-2024Gene type: protein coding
Also known as: p85; AGM7; GRB1; IMD36; p85alpha; p85-ALPHA
- See all available tests in GTR for this gene
- Go to complete Gene record for PIK3R1
- Go to Variation Viewer for PIK3R1 variants
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 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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Agammaglobulinemia 7, autosomal recessive | See labs |
| APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. GeneReviews: Not available | |
| Genome-wide association study of age at menarche in African-American women. GeneReviews: Not available | |
| Immunodeficiency 36 | See labs |
| SHORT syndrome | See labs |
Genomic context
- Location:
- 5q13.1
- Sequence:
- Chromosome: 5; NC_000005.10 (68215756..68301821)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIK3R1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PIK3R1base: Database for pathogenic mutations in the p85-alpha SH2 domain
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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