InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIK3R1

Summary

InnateDB Protein

IDBP-477173.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PIK3R1

Protein Name

phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

Synonyms

AGM7; GRB1; IMD36; p85; p85-ALPHA;

Species

Homo sapiens

Ensembl Protein

ENSP00000428056

InnateDB Gene

IDBG-25037 (PIK3R1)

Protein Structure

UniProt Annotation

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 and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling. {ECO:0000269PubMed:17626883, ECO:0000269PubMed:19805105, ECO:0000269PubMed:7518429}.

Subcellular Localization

Disease Associations

Agammaglobulinemia 7, autosomal recessive (AGM7) [MIM:615214]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269PubMed:22351933}. Note=The disease is caused by mutations affecting the gene represented in this entry.SHORT syndrome (SHORTS) [MIM:269880]: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. {ECO:0000269PubMed:23810378, ECO:0000269PubMed:23810379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:8628286}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 274 experimentally validated interaction(s) in this database.
They are also associated with 57 interaction(s) predicted by orthology.

Experimentally validated
Total	274 [view]
Protein-Protein	273 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	57 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity
GO:0005158	insulin receptor binding
GO:0005159	insulin-like growth factor receptor binding
GO:0005168	neurotrophin TRKA receptor binding
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0019903	protein phosphatase binding
GO:0035014	phosphatidylinositol 3-kinase regulator activity
GO:0043125	ErbB-3 class receptor binding
GO:0043548	phosphatidylinositol 3-kinase binding
GO:0043559	insulin binding
GO:0043560	insulin receptor substrate binding

Biological Process

GO:0001953	negative regulation of cell-matrix adhesion
GO:0006468	protein phosphorylation
GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007596	blood coagulation
GO:0008286	insulin receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0014065	phosphatidylinositol 3-kinase signaling
GO:0016032	viral process
GO:0030168	platelet activation
GO:0030183	B cell differentiation
GO:0030335	positive regulation of cell migration
GO:0031295	T cell costimulation
GO:0032760	positive regulation of tumor necrosis factor production
GO:0034644	cellular response to UV
GO:0038095	Fc-epsilon receptor signaling pathway
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0043066	negative regulation of apoptotic process
GO:0043551	regulation of phosphatidylinositol 3-kinase activity
GO:0044281	small molecule metabolic process
GO:0045087	innate immune response (InnateDB)
GO:0045671	negative regulation of osteoclast differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046326	positive regulation of glucose import
GO:0046854	phosphatidylinositol phosphorylation
GO:0048009	insulin-like growth factor receptor signaling pathway
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0048015	phosphatidylinositol-mediated signaling
GO:0050852	T cell receptor signaling pathway
GO:0050900	leukocyte migration
GO:0051531	NFAT protein import into nucleus
GO:0060396	growth hormone receptor signaling pathway
GO:0090004	positive regulation of establishment of protein localization to plasma membrane

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0005942	phosphatidylinositol 3-kinase complex
GO:0005943	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000198 Rho GTPase-activating protein domain
IPR000980 SH2 domain
IPR001452 SH3 domain
IPR001720 PI3 kinase, P85 regulatory subunit
IPR003191 Guanylate-binding protein, C-terminal
IPR008936 Rho GTPase activation protein
IPR011511 Variant SH3 domain

PFAM