• Gene id: 5295

Gene Summary

• Gene Symbol: PIK3R1   Gene   UCSC   Ensembl
• Aliases: AGM7, GRB1, IMD36, p85, p85-ALPHA
• Gene name: phosphoinositide-3-kinase regulatory subunit 1
• Alternate names: phosphatidylinositol 3-kinase regulatory subunit alpha, PI3-kinase subunit p85-alpha, PI3K regulatory subunit alpha, phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha, phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha), ph,
• Gene location: 5q13.1 (68215736: 68301820)     Exons: 22     NC_000005.10
• Gene summary(Entrez): 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 sub
• OMIM: 171833

SNPs

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

Protein Summary

• Protein general information: P27986  
  • Name: Phosphatidylinositol 3 kinase regulatory subunit alpha (PI3 kinase regulatory subunit alpha) (PI3K regulatory subunit alpha) (PtdIns 3 kinase regulatory subunit alpha) (Phosphatidylinositol 3 kinase 85 kDa regulatory subunit alpha) (PI3 kinase subunit p85
  • Length: 724  
  • Mass: 83598
  • 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
• Sequence:

  MSAEGYQYRALYDYKKEREEDIDLHLGDILTVNKGSLVALGFSDGQEARPEEIGWLNGYNETTGERGDFPGTYVE
  YIGRKKISPPTPKPRPPRPLPVAPGSSKTEADVEQQALTLPDLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLY
  RTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEMISLAPEVQSSEEYIQLLKK
  LIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILISTEWNE
  RQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKG
  GNNKLIKIFHRDGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLH
  EYNTQFQEKSREYDRLYEEYTRTSQEIQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIM
  HNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSIKPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGN
  ENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGCYACSVVVDGEVKHCVINKT
  ATGYGFAEPYNLYSSLKELVLHYQHTSLVQHNDSLNVTLAYPVYAQQRR

• Structural information:
  • Protein Domains: (3..7-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (113..30-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172-)
    (333..42-)
    (/note="SH2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (-)
  • Interpro: IPR032498  IPR035591  IPR035020  IPR035022  IPR008936   IPR000198  IPR000980  IPR036860  IPR036028  IPR001452  
  • Prosite: PS50238 PS50001 PS50002
  • CDD: cd09930 cd09942 cd11910
  • PDB: 1A0N 1AZG 1H9O 1PBW 1PHT 1PIC 1PKS 1PKT 2IUG 2IUH 2IUI 2RD0 2V1Y 3HHM 3HIZ 3I5R 3I5S 4A55 4JPS 4L1B 4L23 4L2Y 4OVU 4OVV 4WAF 4YKN 4ZOP 5AUL 5FI4 5GJI 5ITD 5M6U 5SW8 5SWG 5SWO 5SWP 5SWR 5SWT 5SX8 5SX9 5SXA 5SXB 5SXC 5SXD 5SXE 5SXF 5SXI 5SXJ 5SXK 5UBT 5UK8 5UKJ 5UL1 5VLR 5XGH 5XGI 5XGJ 6NCT 6PYR 6PYU
  • PDBsum: 1A0N 1AZG 1H9O 1PBW 1PHT 1PIC 1PKS 1PKT 2IUG 2IUH 2IUI 2RD0 2V1Y 3HHM 3HIZ 3I5R 3I5S 4A55 4JPS 4L1B 4L23 4L2Y 4OVU 4OVV 4WAF 4YKN 4ZOP 5AUL 5FI4 5GJI 5ITD 5M6U 5SW8 5SWG 5SWO 5SWP 5SWR 5SWT 5SX8 5SX9 5SXA 5SXB 5SXC 5SXD 5SXE 5SXF 5SXI 5SXJ 5SXK 5UBT 5UK8 5UKJ 5UL1 5VLR 5XGH 5XGI 5XGJ 6NCT 6PYR 6PYU
  • DIP: 119
  • STRING: ENSP00000428056
• Other Databases: GeneCards:  PIK3R1  Malacards:  PIK3R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005942	phosphatidylinositol 3-kinase complex	IBA	cellular component
GO:0008286	insulin receptor signaling pathway	IBA	biological process
GO:0043551	regulation of phosphatidylinositol 3-kinase activity	IBA	biological process
GO:0046935	1-phosphatidylinositol-3-kinase regulator activity	IBA	molecular function
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0042307	positive regulation of protein import into nucleus	IDA	biological process
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0033120	positive regulation of RNA splicing	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0005168	neurotrophin TRKA receptor binding	IPI	molecular function
GO:1900103	positive regulation of endoplasmic reticulum unfolded protein response	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0001678	cellular glucose homeostasis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0031295	T cell costimulation	TAS	biological process
GO:0031295	T cell costimulation	TAS	biological process
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051492	regulation of stress fiber assembly	IEA	biological process
GO:0046626	regulation of insulin receptor signaling pathway	IEA	biological process
GO:0045671	negative regulation of osteoclast differentiation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0036312	phosphatidylinositol 3-kinase regulatory subunit binding	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IEA	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0001953	negative regulation of cell-matrix adhesion	IEA	biological process
GO:1990578	perinuclear endoplasmic reticulum membrane	IEA	cellular component
GO:1903076	regulation of protein localization to plasma membrane	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043560	insulin receptor substrate binding	IEA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0034644	cellular response to UV	IEA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007162	negative regulation of cell adhesion	IEA	biological process
GO:0006606	protein import into nucleus	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001678	cellular glucose homeostasis	IEA	biological process
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity	ISS	molecular function
GO:0035014	phosphatidylinositol 3-kinase regulator activity	ISS	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014065	phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0048009	insulin-like growth factor receptor signaling pathway	IDA	biological process
GO:0060396	growth hormone receptor signaling pathway	IDA	biological process
GO:0005942	phosphatidylinositol 3-kinase complex	ISS	cellular component
GO:0043551	regulation of phosphatidylinositol 3-kinase activity	ISS	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0046326	positive regulation of glucose import	ISS	biological process
GO:0046854	phosphatidylinositol phosphorylation	ISS	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	ISS	biological process
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043559	insulin binding	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0048009	insulin-like growth factor receptor signaling pathway	IPI	biological process
GO:0035014	phosphatidylinositol 3-kinase regulator activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046854	phosphatidylinositol phosphorylation	ISS	biological process
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0005943	phosphatidylinositol 3-kinase complex, class IA	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005158	insulin receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005159	insulin-like growth factor receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa05010	Alzheimer disease
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05131	Shigellosis
hsa04014	Ras signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa05203	Viral carcinogenesis
hsa05205	Proteoglycans in cancer
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04150	mTOR signaling pathway
hsa05225	Hepatocellular carcinoma
hsa05017	Spinocerebellar ataxia
hsa04072	Phospholipase D signaling pathway
hsa04140	Autophagy - animal
hsa04932	Non-alcoholic fatty liver disease
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa04910	Insulin signaling pathway
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa04380	Osteoclast differentiation
hsa05160	Hepatitis C
hsa05418	Fluid shear stress and atherosclerosis
hsa05135	Yersinia infection
hsa04611	Platelet activation
hsa04210	Apoptosis
hsa04926	Relaxin signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa04071	Sphingolipid signaling pathway
hsa04725	Cholinergic synapse
hsa04152	AMPK signaling pathway
hsa04068	FoxO signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa05162	Measles
hsa04919	Thyroid hormone signaling pathway
hsa04915	Estrogen signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa05231	Choline metabolism in cancer
hsa04668	TNF signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04931	Insulin resistance
hsa04666	Fc gamma R-mediated phagocytosis
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04620	Toll-like receptor signaling pathway
hsa04066	HIF-1 signaling pathway
hsa04662	B cell receptor signaling pathway
hsa04914	Progesterone-mediated oocyte maturation
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05142	Chagas disease
hsa05222	Small cell lung cancer
hsa04012	ErbB signaling pathway
hsa04211	Longevity regulating pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa01522	Endocrine resistance
hsa05146	Amoebiasis
hsa05100	Bacterial invasion of epithelial cells
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer
hsa05214	Glioma
hsa04664	Fc epsilon RI signaling pathway
hsa05212	Pancreatic cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa04917	Prolactin signaling pathway
hsa05221	Acute myeloid leukemia
hsa05211	Renal cell carcinoma
hsa05218	Melanoma
hsa05223	Non-small cell lung cancer
hsa04929	GnRH secretion
hsa04213	Longevity regulating pathway - multiple species
hsa04930	Type II diabetes mellitus
hsa04370	VEGF signaling pathway
hsa05213	Endometrial cancer
hsa04923	Regulation of lipolysis in adipocytes
hsa05230	Central carbon metabolism in cancer
hsa01524	Platinum drug resistance
hsa04973	Carbohydrate digestion and absorption
hsa04960	Aldosterone-regulated sodium reabsorption
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
SHORT syndrome	KEGG:H01370
SHORT syndrome	KEGG:H01370
Prostate cancer	PMID:18336616
Alzheimer's disease	PMID:12185156
Endometrial cancer	PMID:21984976
Endometrial adenocarcinoma	PMID:21478295
Endometrial carcinoma	PMID:23636398
lung adenocarcinoma	PMID:26695082
renal cell carcinoma	PMID:25757764
lung small cell carcinoma	PMID:28280736
Astroblastoma	PMID:26286747
colorectal cancer	PMID:21978709
type 2 diabetes mellitus	PMID:14551916
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R