Hs06121248_cn

• Gene Symbol: PIK3R1
• Assay Reference Genome Location: Chr.5:68216025 on build GRCh38
• Cytoband: 5q13.1

Target Gene Details

• Entrez Gene ID: 5295
• Gene Name: phosphoinositide-3-kinase regulatory subunit 1
• Gene Aliases: AGM7, GRB1, IMD36, p85, p85-ALPHA
• Location: Chr.5:68215737-68301821 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIK3R1	NM_181523.2			NP_852664.1
	XM_005248542.3			XP_005248599.1
	XM_017009585.1			XP_016865074.1
	BC094795.1			AAH94795.1
	CT003423.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv28511	Chr.5:68213679 - 68217315 on Build GRCh38	Loss	PIK3R1
nsv598411	Chr.5:68212683 - 68216490 on Build GRCh38	Gain	PIK3R1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

kinase modulator

Gene Ontology Categories:

Process(es)

cellular glucose homeostasis
negative regulation of cell-matrix adhesion
protein phosphorylation
phosphatidylinositol biosynthetic process
epidermal growth factor receptor signaling pathway
insulin receptor signaling pathway
extrinsic apoptotic signaling pathway via death domain receptors
intrinsic apoptotic signaling pathway in response to DNA damage
phosphatidylinositol 3-kinase signaling
regulation of phosphatidylinositol 3-kinase signaling
viral process
platelet activation
B cell differentiation
positive regulation of cell migration
T cell costimulation
positive regulation of tumor necrosis factor production
cellular response to insulin stimulus
positive regulation of RNA splicing
cellular response to UV
response to endoplasmic reticulum stress
phosphatidylinositol-3-phosphate biosynthetic process
Fc-epsilon receptor signaling pathway
Fc-gamma receptor signaling pathway involved in phagocytosis
ERBB2 signaling pathway
positive regulation of transcription factor import into nucleus
negative regulation of apoptotic process
regulation of phosphatidylinositol 3-kinase activity
negative regulation of osteoclast differentiation
positive regulation of transcription from RNA polymerase II promoter
positive regulation of glucose import
phosphatidylinositol phosphorylation
insulin-like growth factor receptor signaling pathway
vascular endothelial growth factor receptor signaling pathway
phosphatidylinositol-mediated signaling
protein stabilization
T cell receptor signaling pathway
leukocyte migration
regulation of stress fiber assembly
NFAT protein import into nucleus
growth hormone receptor signaling pathway
positive regulation of establishment of protein localization to plasma membrane
positive regulation of endoplasmic reticulum unfolded protein response
positive regulation of glucose import in response to insulin stimulus

Function(s)

transmembrane receptor protein tyrosine kinase adaptor activity
insulin receptor binding
insulin-like growth factor receptor binding
neurotrophin TRKA receptor binding
protein binding
transcription factor binding
1-phosphatidylinositol-3-kinase activity
protein phosphatase binding
phosphatidylinositol 3-kinase regulator activity
phosphatidylinositol 3-kinase regulatory subunit binding
ErbB-3 class receptor binding
phosphatidylinositol 3-kinase binding
insulin binding
insulin receptor substrate binding
phosphatidylinositol-4,5-bisphosphate 3-kinase activity
1-phosphatidylinositol-3-kinase regulator activity
protein heterodimerization activity