Version: 8.0.0Date: Tue Jan 28 2025
Gene
PIK3R1
- Species
- Homo sapiens
- Symbol
- PIK3R1
- Name
- phosphoinositide-3-kinase regulatory subunit 1
- Synonyms
- AGM7
- GRB1
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including insulin binding activity; phosphotyrosine residue binding activity; and signaling receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of macromolecule biosynthetic process; and regulation of signal transduction. Located in cytoplasm. Part of phosphatidylinositol 3-kinase complex, class IA. Implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; astroblastoma; endometrial cancer (multiple); and immunodeficiency 36. Biomarker of arthritis (multiple); astroblastoma; carcinoma (multiple); colorectal cancer; and prostate cancer.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10155
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr5:68215740...68301821 + (86.08 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction