Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PIK3R1
Symbol Alias	GRB1, p85-ALPHA, p85
Approved Name	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
Location	5q13.1
Position	chr5:68215720-68301821, 1
External Links	HGNC: 8979 Entrez Gene: 5295 Ensembl: ENSG00000145675 UCSC: uc003jva.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Drago, A., 2016		Freq(Significant SNPs/total SNPs%)=0.13. Encodes for a subunit of Phosphatidylinositol 3-kinase enzyme which is 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.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 65)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	ISS	283
GO:0005159	insulin-like growth factor receptor binding	molecular function	IPI[7541045]	5
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0005158	insulin receptor binding	molecular function	IPI[7537849]	5
GO:0045087	innate immune response	biological process	TAS	49

GO terms by database search (count: 59)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005168	neurotrophin TRKA receptor binding	molecular function	IPI[15488758]	2
GO:0030335	positive regulation of cell migration	biological process	IEA	16
GO:0032869	cellular response to insulin stimulus	biological process	ISS	12
GO:0005911	cell-cell junction	cellular component	IEA	16
GO:0060396	growth hormone receptor signaling pathway	biological process	IDA[7782332]	1
GO:0019903	protein phosphatase binding	molecular function	IPI[14699157]	5
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0005942	phosphatidylinositol 3-kinase complex	cellular component	IBA; ISS	4
GO:0016032	viral process	biological process	IEA	26
GO:0033120	positive regulation of RNA splicing	biological process	IMP[20348923]	1
GO:0043559	insulin binding	molecular function	IDA[8440175]	1
GO:0043548	phosphatidylinositol 3-kinase binding	molecular function	ISS	4
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	biological process	TAS	9
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	biological process	IEA	5
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IMP[20348923]; ISS	91
GO:0005943	phosphatidylinositol 3-kinase complex, class IA	cellular component	ISS	1
GO:0046935	1-phosphatidylinositol-3-kinase regulator activity	molecular function	IBA	2
GO:0005515	protein binding	molecular function	IPI[10500481]	563
GO:0031295	T cell costimulation	biological process	TAS	6
GO:0001953	negative regulation of cell-matrix adhesion	biological process	IEA	3
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0008286	insulin receptor signaling pathway	biological process	IBA; TAS	15
GO:0043125	ErbB-3 class receptor binding	molecular function	IDA[10572067]	2
GO:0035014	phosphatidylinositol 3-kinase regulator activity	molecular function	ISS	1
GO:0042993	positive regulation of transcription factor import into nucleus	biological process	IDA[20348923]; ISS	2
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	TAS	12
GO:0043551	regulation of phosphatidylinositol 3-kinase activity	biological process	IBA; ISS	2
GO:0046854	phosphatidylinositol phosphorylation	biological process	IBA; ISS	10
GO:0048009	insulin-like growth factor receptor signaling pathway	biological process	IDA[7782332]; IPI[7541045]	4
GO:0051531	NFAT protein import into nucleus	biological process	IEA	1
GO:0008134	transcription factor binding	molecular function	IPI[20348923]	28
GO:0001678	cellular glucose homeostasis	biological process	ISS	3
GO:0046326	positive regulation of glucose import	biological process	ISS[8052599]	7
GO:0050821	protein stabilization	biological process	IDA[20348923]	12
GO:0032760	positive regulation of tumor necrosis factor production	biological process	IEA	5
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity	molecular function	ISS	1
GO:0006468	protein phosphorylation	biological process	IEA	42
GO:0034644	cellular response to UV	biological process	IEA	5
GO:0030168	platelet activation	biological process	TAS	22
GO:0090004	positive regulation of establishment of protein localization to plasma membrane	biological process	ISS[8052599]	6
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0006661	phosphatidylinositol biosynthetic process	biological process	TAS	13
GO:0006644	phospholipid metabolic process	biological process	TAS	18
GO:0014065	phosphatidylinositol 3-kinase signaling	biological process	IDA[7782332]	5
GO:1900103	positive regulation of endoplasmic reticulum unfolded protein response	biological process	IMP[20348923]	2
GO:0045671	negative regulation of osteoclast differentiation	biological process	IEA	4
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	biological process	IEA	5
GO:0034976	response to endoplasmic reticulum stress	biological process	IDA[20348923]; ISS	9
GO:0050900	leukocyte migration	biological process	TAS	9
GO:0043560	insulin receptor substrate binding	molecular function	ISS	2
GO:0005737	cytoplasm	cellular component	IDA[20348923]	322
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0007596	blood coagulation	biological process	TAS	44
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0005829	cytosol	cellular component	TAS	223
GO:0043066	negative regulation of apoptotic process	biological process	IMP[20348923]	46
GO:0030183	B cell differentiation	biological process	IEA	5
GO:0050852	T cell receptor signaling pathway	biological process	TAS	9

Gene related KEGG pathways (count: 27)

KEGG pathways by PBA (count: 6)

ID	Name	No. of Genes in BDgene
hsa05214	Glioma	9
hsa04070	Phosphatidylinositol signaling system	16
hsa05221	Acute myeloid leukemia	7
hsa05222	Small cell lung cancer	8
hsa04210	Apoptosis	12
hsa04510	Focal adhesion	22

KEGG pathways by database search (count: 21)

ID	Name	No. of Genes in BDgene
hsa05211	Renal cell carcinoma	6
hsa05210	Colorectal cancer	14
hsa05213	Endometrial cancer	10
hsa05212	Pancreatic cancer	10
hsa05215	Prostate cancer	18
hsa04012	ErbB signaling pathway	13
hsa05218	Melanoma	7
hsa05220	Chronic myeloid leukemia	6
hsa05223	Non-small cell lung cancer	8
hsa04150	mTOR signaling pathway	5
hsa04370	VEGF signaling pathway	11
hsa04650	Natural killer cell mediated cytotoxicity	13
hsa04660	T cell receptor signaling pathway	13
hsa04630	Jak-STAT signaling pathway	14
hsa04620	Toll-like receptor signaling pathway	10
hsa04670	Leukocyte transendothelial migration	13
hsa04664	Fc epsilon RI signaling pathway	13
hsa04662	B cell receptor signaling pathway	8
hsa04930	Type II diabetes mellitus	11
hsa04910	Insulin signaling pathway	10
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 47)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
badPathway	Regulation of BAD phosphorylation	9

BioCarta pathways by database search (count: 46)

ID	Name	No. of Genes in BDgene
pdgfPathway	PDGF Signaling Pathway	5
edg1Pathway	Phospholipids as signalling intermediaries	4
achPathway	Role of nicotinic acetylcholine receptors in the regulation of apoptosis	6
ctcfPathway	CTCF: First Multivalent Nuclear Factor	3
mTORPathway	mTOR Signaling Pathway	2
nkcellsPathway	Ras-Independent pathway in NK cell-mediated cytotoxicity	3
TPOPathway	TPO Signaling Pathway	4
tcrPathway	T Cell Receptor Signaling Pathway	7
ngfPathway	Nerve growth factor pathway (NGF)	5
igf1rPathway	Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation	5
hcmvPathway	Human Cytomegalovirus and Map Kinase Pathways	5
egfPathway	EGF Signaling Pathway	5
ghPathway	Growth Hormone Signaling Pathway	4
RacCycDPathway	Influence of Ras and Rho proteins on G1 to S Transition	3
gleevecpathway	Inhibition of Cellular Proliferation by Gleevec	4
pparaPathway	Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)	12
arfPathway	Tumor Suppressor Arf Inhibits Ribosomal Biogenesis	4
rasPathway	Ras Signaling Pathway	5
il7Pathway	IL-7 Signal Transduction	6
igf1mtorpathway	Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway	4
aktPathway	AKT Signaling Pathway	6
eif4Pathway	Regulation of eIF4e and p70 S6 Kinase	2
trkaPathway	Trka Receptor Signaling Pathway	4
crebPathway	Transcription factor CREB and its extracellular signals	8
il2rbPathway	IL-2 Receptor Beta Chain in T cell Activation	6
cxcr4Pathway	CXCR4 Signaling Pathway	3
nfatPathway	NFAT and Hypertrophy of the heart (Transcription in the broken heart)	11
metPathway	Signaling of Hepatocyte Growth Factor Receptor	2
ctla4Pathway	The Co-Stimulatory Signal During T-cell Activation	3
ptenPathway	PTEN dependent cell cycle arrest and apoptosis	3
igf1Pathway	IGF-1 Signaling Pathway	4
tffPathway	Trefoil Factors Initiate Mucosal Healing	4
insulinPathway	Insulin Signaling Pathway	4
gsk3Pathway	Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages	5
her2Pathway	Role of ERBB2 in Signal Transduction and Oncology	7
gcrPathway	Corticosteroids and cardioprotection	9
plcPathway	Phospholipase C Signaling Pathway	4
longevityPathway	The IGF-1 Receptor and Longevity	6
ecmPathway	Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia	4
rac1Pathway	Rac 1 cell motility signaling pathway	6
vegfPathway	VEGF, Hypoxia, and Angiogenesis	4
hdacPathway	Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK)	10
Par1Pathway	Thrombin signaling and protease-activated receptors	4
erk5Pathway	Role of Erk5 in Neuronal Survival	5
fcer1Pathway	Fc Epsilon Receptor I Signaling in Mast Cells	5
cdc42racPathway	Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration	2

Gene related interactors from protein-protein interactions data in HPRD (count: 122)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PIK3R1	ERBB2	YES	in vivo	1351056 , 16843263
PIK3R1	RB1	NO	in vivo	12588990
PIK3R1	PPM1A	YES	in vitro;in vivo	15016818
PIK3R1	CD40	NO	in vitro	12637493
PIK3R1	CRK	NO	in vivo	12878163
PIK3R1	FGFR1	NO	in vitro;in vivo	15117958
PIK3R1	CRKL	NO	in vivo	9461587
PIK3R1	PTK2B	YES	in vivo	10797305
PIK3R1	TEC	NO	in vivo	9178903
PIK3R1	PIK3AP1	NO	in vitro;in vivo	11163197
PIK3R1	IL1RAP	NO	in vitro;in vivo	10373529
PIK3R1	INPP4A	YES	in vivo	10097090
PIK3R1	ERAS	NO	in vivo	12774123
PIK3R1	SHC1	NO	in vitro;in vivo	8662998 , 8621719 , 16219545
PIK3R1	TUB	NO	in vitro	10455176
PIK3R1	GHR	NO	in vivo	9632636
PIK3R1	CDH2	NO	in vitro	15192701
PIK3R1	ANK3	YES	in vitro	16377635
PIK3R1	WAS	NO	in vitro	10358777
PIK3R1	GAB2	NO	in vitro;in vivo	10068651 , 16219545
PIK3R1	FASLG	NO	in vivo	11741599
PIK3R1	PTK2	NO	in vivo	7537275 , 8649427 , 10806474
PIK3R1	CTNNB1	NO	in vitro;in vivo	11716761 , 10477752
PIK3R1	EZR	NO	in vitro;in vivo	10377409
PIK3R1	FCGR2A	NO	in vivo	8631888
PIK3R1	CD7	NO	in vitro;in vivo	8918688
PIK3R1	HGS	NO	in vitro	10970851
PIK3R1	JAK1	YES	in vivo	9774657
PIK3R1	ERBB3	NO	in vitro;in vivo;yeast 2-hybrid	10383151 , 11546794
PIK3R1	HCK	NO	in vitro	12029088
PIK3R1	GAB1	NO	in vitro	11940581 , 16638574
PIK3R1	KIT	NO	in vitro;in vivo	7509796
PIK3R1	CD3E	NO	in vitro;in vivo	11855827 , 11689561 , 9312149
PIK3R1	IL1R1	NO	in vitro	10373529 , 9360994
PIK3R1	PIK3CB	NO	in vitro;in vivo	10358930 , 8139559
PIK3R1	MST1R	YES	in vivo	8918464
PIK3R1	PSEN1	NO	in vitro	15192701
PIK3R1	NFKBIA	NO	in vitro;in vivo	9892650
PIK3R1	NUP85	NO	in vivo	7592789
PIK3R1	SHB	NO	in vitro	7537362
PIK3R1	WASF3	NO	in vitro;in vivo;yeast 2-hybrid	15826941
PIK3R1	IL7R	NO	in vivo	7522165
PIK3R1	PDGFRA	NO	in vivo	8702949
PIK3R1	IFNAR1	NO	in vivo	10542297
PIK3R1	INSR	NO	in vitro;in vivo	15629149 , 8385099 , 14729945 , 8276809
PIK3R1	PTPN6	NO	in vitro;yeast 2-hybrid	11337495 , 11160222
PIK3R1	TUBG1	NO	in vivo	7592789
PIK3R1	MAPK8	NO	in vivo	7642542
PIK3R1	TSHR	YES	in vivo	12668683
PIK3R1	GAB3	NO	in vivo	11739737
PIK3R1	EPOR	NO	in vivo	7559499
PIK3R1	SSTR2	NO	in vitro;in vivo	16917505
PIK3R1	JAK2	NO	in vitro;in vivo	8702385
PIK3R1	ARAF	NO	in vitro;in vivo	11812000 , 10967104
PIK3R1	TGFBR1	NO	in vivo	9435577
PIK3R1	SYK	NO	yeast 2-hybrid	15536084
PIK3R1	IGF1R	NO	in vitro	8697095
PIK3R1	LCK	NO	in vitro;in vivo	7504174 , 9461588 , 8294442
PIK3R1	TUBA1B	YES	in vivo	7592789
PIK3R1	CD4	NO	in vitro	8246987
PIK3R1	PIK3CA	NO	in vitro;in vivo	16043515 , 7929193
PIK3R1	TOM1L1	NO	in vitro	11711534
PIK3R1	PDGFRB	YES	in vivo	10697503 , 1372092
PIK3R1	TRAT1	NO	in vitro	10723796 , 9687533
PIK3R1	SOCS6	NO	in vitro	12052866
PIK3R1	SYN1	NO	in vitro;in vivo	10899172
PIK3R1	PECAM1	NO	in vitro	9774384
PIK3R1	GRB2	NO	in vitro;in vivo	7759531 , 7642542 , 7737969 , 8621719 , 16219545
PIK3R1	ABL1	NO	in vitro;in vivo	1383690 , 16219545 , 8294442
PIK3R1	RRAS2	NO	in vivo	11850823
PIK3R1	PFN1	NO	in vivo	9801792
PIK3R1	RAC1	YES	in vitro	12086876 , 8034624 , 7629060
PIK3R1	IRS4	NO	in vivo	11912194
PIK3R1	HRAS	NO	in vivo	10212255
PIK3R1	GTF2H1	NO	in vitro	10467411
PIK3R1	NTRK1	NO	in vitro;in vivo	8384556
PIK3R1	JAK3	NO	in vivo	7662955
PIK3R1	CBL	NO	in vitro;in vivo	11133830 , 8621719 , 8662998 , 16219545 , 7642581 , 9234717
PIK3R1	TLR2	NO	in vitro	15007072
PIK3R1	DNM1	NO	in vitro	11341978
PIK3R1	ARHGAP17	NO	in vitro	11431473
PIK3R1	SLC9A2	NO	in vitro	10187839
PIK3R1	TGFBR2	NO	in vivo	9435577
PIK3R1	IRS1	NO	in vitro;in vivo	12220227 , 12173038 , 1381348 , 16230374 , 16043515
PIK3R1	CDC42	NO	in vitro;in vivo	9381982 , 7629060 , 8034624
PIK3R1	TIE1	NO	in vitro;in vivo	11865050
PIK3R1	PIK3CD	NO	in vivo	9113989
PIK3R1	KHDRBS1	NO	in vitro;in vivo	10437794 , 11604231 , 7537265
PIK3R1	FES	NO	in vitro	8916957
PIK3R1	CSF2RA	NO	in vivo	12538575
PIK3R1	CBLB	NO	in vitro;in vivo	10086340
PIK3R1	RASA1	NO	in vivo	1336372
PIK3R1	IRS2	NO	in vivo	12107746 , 9852124
PIK3R1	AGAP2	NO	in vivo	11136977
PIK3R1	SRC	NO	in vivo	12210743
PIK3R1	ARHGAP1	NO	in vitro	8253717
PIK3R1	CSF1R	NO	in vivo	8947469
PIK3R1	CD5	NO	in vivo	9079809
PIK3R1	YWHAG	NO	in vivo	15324660
PIK3R1	PSMB5	NO	in vivo	18711014
PIK3R1	SH3KBP1	NO	in vivo	11071869 , 10921882
PIK3R1	IL13	NO	in vivo	9139718
PIK3R1	TYK2	NO	in vitro;in vivo	10995743
PIK3R1	CD22	NO	in vitro	8647200
PIK3R1	TYRO3	NO	in vivo;yeast 2-hybrid	10627473
PIK3R1	SOCS1	NO	in vitro	10022833
PIK3R1	CHRNA7	YES	in vivo	11278378
PIK3R1	TEK	NO	in vitro;in vivo;yeast 2-hybrid	10521483
PIK3R1	PTPN11	NO	in vivo	9918857
PIK3R1	CD19	NO	in vivo	7528218
PIK3R1	AKT1	YES	in vitro	10527852
PIK3R1	SOCS7	NO	in vitro	12052866
PIK3R1	BCAR1	NO	in vitro	10799562
PIK3R1	AXL	NO	in vitro;in vivo	9178760
PIK3R1	MME	NO	in vitro	12529960
PIK3R1	VAV3	YES	in vitro;in vivo	11094073
PIK3R1	CD2AP	NO	in vitro	10339567
PIK3R1	MET	NO	in vitro	7513258
PIK3R1	RET	NO	in vitro;in vivo	10652352
PIK3R1	CD28	NO	in vitro;in vivo	8621607 , 7737275
PIK3R1	WBP11	NO	in vitro	11375989
PIK3R1	IL2RB	YES	in vitro;in vivo	9774657

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5p13.3-q13.3	chr5:28900000-77600000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
17893707	593	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
15303102	Genes altered in major depressive disorder	Pos	PIK3R1

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Region: chr5:68215720..68301821 View in gBrowse