PIK3R1 - phosphoinositide-3-kinase regulatory subunit 1 Gene

Also Known as p85; AGM7; GRB1; IMD36; p85alpha; p85-ALPHA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5295

About PIK3R1

Cytogenetic location: 5q13.1 Genomic coordinates (GRCh38): 5:68,215,756-68,301,821 (from NCBI)

This gene has 33 transcripts (splice variants), 248 orthologues, 2 paralogues and is associated with 135 phenotypes. Ubiquitous expression in fat (RPKM 16.6), brain (RPKM 16.6) and 24 other tissues.

Summary

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]

PIK3R1 Products (4)

mRNA Protein Name
NM_001242466.2 NP_001229395.1 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 4
NM_181504.4 NP_852556.2 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 2
NM_181523.3 NP_852664.1 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 1
NM_181524.2 NP_852665.1 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 3

PIK3R1 Protein Structure

SH3_2

SH3_2: Variant SH3 domain (8 - 75)

RhoGAP

RhoGAP: RhoGAP domain (129 - 277)

SH2

SH2: SH2 domain (333 - 408)

SH2

SH2: SH2 domain (624 - 698)

  • 0
  • 200
  • 400
  • 600
  • 724 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol 3-kinase regulatory subunit alpha

  • PI3 kinase-associated p85

PIK3R1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PIK3R1 P27986 CHAF1A Homo sapiens Q13111 17474147
Intra
PIK3R1 P27986 CHAF1A Homo sapiens Q13111 26496610
Intra
PIK3R1 P27986 FLT1 Homo sapiens P17948
Y2H
7657594
Intra
PIK3R1 P27986 FLT1 Homo sapiens P17948
PLA
23397142
Intra
PIK3R1 P27986 FGFR1 Homo sapiens P11362
PLA
25241761
Intra
PIK3R1 P27986 FGFR1 Homo sapiens P11362 18412956
Intra
PIK3R1 P27986 CTLA4 Homo sapiens P16410 7807015
Intra
PIK3R1 P27986 CTLA4 Homo sapiens P16410 9813138
Intra
PIK3R1 P27986 MET Homo sapiens P08581
FPS
24728074
Intra
PIK3R1 P27986 IRS2 Homo sapiens Q9Y4H2 21241768
Intra
PIK3R1 P27986 IRS2 Homo sapiens Q9Y4H2 26496610
Intra
PIK3R1 P27986 SIK2 Homo sapiens Q9H0K1 27478041
Intra
PIK3R1 P27986 LAT Homo sapiens O43561 10811803
Intra
PIK3R1 P27986 LAT Homo sapiens O43561 10811803
Intra
PIK3R1 P27986 KIT Homo sapiens P10721 7537096
Intra
PIK3R1 P27986 KIT Homo sapiens P10721
FPS
24728074
Intra
PIK3R1 P27986 KIT Homo sapiens P10721 1382595
Cross
PIK3R1 P27986 mt_povm1 Mus musculus polyomavirus P0DOJ9
NMR
11123912
Intra
PIK3R1 P27986 ELK3 Homo sapiens P41970 25416956
Intra
PIK3R1 P27986 ELK3 Homo sapiens P41970 17474147
Intra
PIK3R1 P27986 SIRT1 Homo sapiens Q96EB6 21241768
Intra
PIK3R1 P27986 PIK3CB Homo sapiens P42338 26496610
Intra
PIK3R1 P27986 PIK3CB Homo sapiens P42338
PLA
25241761
Intra
PIK3R1 P27986 PIK3CB Homo sapiens P42338 35271311
Intra
PIK3R1 P27986 PIK3CB Homo sapiens P42338 20713702
Intra
PIK3R1 P27986 AXL Homo sapiens P30530 9178760
Intra
PIK3R1 P27986 MAPK8 Homo sapiens P45983 25284480
Intra
PIK3R1 P27986 MAPK8 Homo sapiens P45983 16982329
Intra
PIK3R1 P27986 MAPK8 Homo sapiens P45983 25284480
Intra
PIK3R1 P27986 EGFR Homo sapiens P00533 16273093
Intra
PIK3R1 P27986 EGFR Homo sapiens P00533 7797556
Intra
PIK3R1 P27986 LAPTM4B Homo sapiens Q86VI4-3 20711237
Intra
PIK3R1 P27986 LAPTM4B Homo sapiens Q86VI4-3 20711237
Intra
PIK3R1 P27986 PIK3R2 Homo sapiens O00459 35271311
Intra
PIK3R1 P27986 FLT3 Homo sapiens P36888 16982329
Intra
PIK3R1 P27986 GRB2 Homo sapiens P62993 20936779
Intra
PIK3R1 P27986 GRB2 Homo sapiens P62993 7642581
Intra
PIK3R1 P27986 CD28 Homo sapiens P10747 8146197
Intra
PIK3R1 P27986 CD28 Homo sapiens P10747 7568038
Intra
PIK3R1 P27986 CD28 Homo sapiens P10747 10820259
Intra
PIK3R1 P27986 CD28 Homo sapiens P10747 7807015
Intra
PIK3R1 P27986 CD28 Homo sapiens P10747 10820259
Intra
PIK3R1 P27986 HTT Homo sapiens P42858 23275563
Intra
PIK3R1 P27986 HTT Homo sapiens P42858
Y2H
17500595
Intra
PIK3R1 P27986 INSR Homo sapiens P06213 9593725
Intra
PIK3R1 P27986 INSR Homo sapiens P06213 11796522
Intra
PIK3R1 P27986 IGF1R Homo sapiens P08069 7589433
Intra
PIK3R1 P27986 IGF1R Homo sapiens P08069
Y2H
8603569
Intra
PIK3R1 P27986 IGF1R Homo sapiens P08069
PLA
25241761
Intra
PIK3R1 P27986 FASLG Homo sapiens P48023 19807924
Intra
PIK3R1 P27986 FASLG Homo sapiens P48023
PLA
25241761
Intra
PIK3R1 P27986 IRS1 Homo sapiens P35568
Y2H
14632132
Intra
PIK3R1 P27986 GAB1 Homo sapiens Q13480 10978177
Intra
PIK3R1 P27986 GAB1 Homo sapiens Q13480
FPS
24728074
Intra
PIK3R1 P27986 GAB1 Homo sapiens Q13480 10978177
Intra
PIK3R1 P27986 CBL Homo sapiens P22681 15581361
Intra
PIK3R1 P27986 CBL Homo sapiens P22681 8662998
Intra
PIK3R1 P27986 CBL Homo sapiens P22681 16982329
Intra
PIK3R1 P27986 CBL Homo sapiens P22681 15556646
Intra
PIK3R1 P27986 CBL Homo sapiens P22681 15556646
Intra
PIK3R1 P27986 TIRAP Homo sapiens P58753 19574958
Intra
PIK3R1 P27986 AR Homo sapiens P10275
FPS
24728074
Intra
PIK3R1 P27986 TLR3 Homo sapiens O15455 16858407
Intra
PIK3R1 P27986 TLR3 Homo sapiens O15455 16858407
Intra
PIK3R1 P27986 SRC Homo sapiens P12931
PLA
23397142
Intra
PIK3R1 P27986 SRC Homo sapiens P12931
PLA
25241761
Intra
PIK3R1 P27986 SSTR2 Homo sapiens P30874 16917505
Intra
PIK3R1 P27986 SSTR2 Homo sapiens P30874
SPR
16917505
Intra
PIK3R1 P27986 ERBB2 Homo sapiens P04626 16273093
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619 7692233
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619
Y2H
11710529
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619
ITC
10752619
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619 1314164
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619 11896612
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619
NMR
8670861
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619 7680644
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619
SPR
7536927
Intra
PIK3R1 P27986 PDGFRB Homo sapiens P09619 8564419
Intra
PIK3R1 P27986 LTK Homo sapiens P29376 9223670
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329 31031754
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329 35271311
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329 21827948
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329 21827948
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329 21827948
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329 22020336
Intra
PIK3R1 P27986 PIK3CD Homo sapiens O00329
GMS
21827948
Intra
PIK3R1 P27986 ERBB3 Homo sapiens P21860 16273093
Intra
PIK3R1 P27986 ERBB3 Homo sapiens P21860 10572067
Cross
PIK3R1 P27986 Nyap1 Mus musculus Q6PFX7 21946561
Cross
PIK3R1 P27986 Nyap1 Mus musculus Q6PFX7 21946561
Cross
PIK3R1 P27986 Nyap2 Mus musculus Q8BM65-4 21946561
Cross
PIK3R1 P27986 Nyap2 Mus musculus Q8BM65-4 21946561
Intra
PIK3R1 P27986 CMIP Homo sapiens Q8IY22 20018188
Intra
PIK3R1 P27986 CMIP Homo sapiens Q8IY22 20018188
Intra
PIK3R1 P27986 RXRA Homo sapiens P19793 20541701
Intra
PIK3R1 P27986 RXRA Homo sapiens P19793 20541701
Intra
PIK3R1 P27986 GRB10 Homo sapiens Q13322 23246379
Cross
PIK3R1 P27986 Irs1 Rattus norvegicus P35570 1380456
Cross: Cross-species interaction Intra: Intraspecies interaction

PIK3R1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80516 PI3 Kinase p85 alpha Antibody (YA134) WB, ICC/IF, IHC-P, FC Human, Mouse
HY-P80846 Phospho-PI3 Kinase p85/p55 (Tyr467/Tyr199) Antibody WB, IHC-F, IHC-P, ICC/IF, ELISA Human, Mouse, Rat
HY-P80867 PI3 Kinase p85 alpha Antibody (YA689) WB, IHC-P Human, Mouse, Rat
HY-P80867A PI3 Kinase p85 alpha Antibody (YA689)(PBS only) WB, IHC-P Human, Mouse, Rat
HY-P810696 Phospho-PI3 Kinase p85/p55 (Tyr458/Tyr199) Antibody (YA9946) WB, ELISA, IF-Tissue Human, Mouse, Rat
HY-P84233 PI3 Kinase p85 alpha Antibody (YA3930) IHC-P, ICC/IF, FC, ELISA Human, Mouse
HY-P84233A PI3 Kinase p85 alpha Antibody (YA3930)(PBS only) IHC-P, ICC/IF, FC, ELISA Human, Mouse
HY-P85740 PI3 Kinase p85 alpha Antibody (YA5432) WB, IHC-P, ICC/IF Rat, Mouse
HY-P86645 PI3 Kinase p85 alpha Antibody (YA6337) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Short Syndrome
  • Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay

  • Aarskog-Ose-Pande Syndrome

  • Lipodystrophy, Partial, With Rieger Anomaly And Short Stature

  • Lipodystrophy-Rieger Anomaly-Diabetes Syndrome

  • Rieger Anomaly-Partial Lipodystrophy Syndrome

  • Partial Lipodystrophy With Rieger Anomaly And Short Stature

  • Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay

  • Growth Retardation-Rieger Anomaly

  • Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay

  • SHORTS

Agammaglobulinemia 7, Autosomal Recessive
  • AGM7

  • Agammaglobulinemia, Autosomal Recessive, Due To Pik3r1 Defect

  • Agammaglobulinemia Autosomal Recessive Due To Pik3r1 Defect

  • Agammaglobulinemia, Type 7, Autosomal Recessive

Immunodeficiency 36
  • IMD36

  • Activated Phosphoinositide 3-Kinase Delta Syndrome 2

  • Immunodeficiency, Type 36

Immunodeficiency 14a, Autosomal Dominant
  • Activated Pi3k-Delta Syndrome

  • Apds

  • P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

  • Pasli

  • IMD14A

  • Immunodeficiency 14

  • P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

  • Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation

  • Activated Pi3k-Delta Immunodeficiency Syndrome

Agammaglobulinemia, Non-Bruton Type
  • Autosomal Agammaglobulinemia

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
  • Cloves Syndrome

  • Clove Syndrome

  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities

  • Clove Syndrome, Somatic

  • Nevus

  • Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi

  • Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome

  • Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome

  • CLOVE

  • Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities

  • Congenital Arteriovenous Malformation

  • Arteriovenous Hemangioma

  • Melanocytic Nevus

  • Benign Melanocytic Nevus

Uterine Carcinosarcoma
  • Carcinosarcoma Of The Corpus Uteri

  • Mixed Mullerian Sarcoma Of Uterus

  • Malignant Mixed Müllerian Tumor Of The Corpus Uteri

  • Malignant Mixed Müllerian Tumor Of Corpus Uteri

  • Mixed Müllerian Cancer Of Corpus Uteri

  • Malignant Mixed Mullerian Tumor Of The Corpus Uteri

  • Mixed Mullerian Cancer Of Corpus Uteri

  • Uterine Corpus Carcinosarcoma

Brain Cancer
  • Adult Brain Tumor

  • Malignant Neoplasm Of Brain

  • Brain Neoplasms

  • Brain Neoplasm

  • Neoplasm Of Brain

  • Primary Malignant Neoplasm Of Brain

  • Brain Tumors

  • Adult Malignant Brain Neoplasm

  • Brain Neoplasm, Adult

  • Bt - Brain Tumour

  • Malignant Brain Tumour

  • Malignant Primary Brain Neoplasm

  • Malignant Primary Brain Tumor

  • Malignant Tumor Of Adult Brain

  • Malignant Tumor Of Brain

  • Primary Brain Neoplasm

  • Primary Brain Tumor

  • Tumor Of The Brain

  • Brain Tumor, Adult

  • Brain Tumor Primary

  • Malignant Primary Brain Tumors

  • Primary Brain Tumors

  • Cancer, Brain

  • Brain Tumor, Primary

Gliosarcoma
  • Glioblastoma With Sarcomatous Component

  • Sarcomatous Glioblastoma

Agammaglobulinemia 7
Giant Cell Glioblastoma
  • Monstrocellular Sarcoma

Agammaglobulinemia
  • Hypogammaglobulinemia

  • Ighm

  • Mu Heavy Chain Deficiency

  • Mu-Heavy Chain Disease

  • Mu-Hcd

  • Mu-Chain Disease

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Immunodeficiency 14
  • Activated Pi3k-Delta Syndrome

  • Apds

  • Pasli Disease

  • Imd14

  • Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation

  • P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Skin Melanoma
  • Cutaneous Melanoma

  • Malignant Ear Melanoma

  • Malignant Lip Melanoma

  • Malignant Lower Limb Melanoma

  • Malignant Melanoma Of Ear And/Or External Auricular Canal

  • Malignant Melanoma Of Skin Of Lower Limb

  • Malignant Melanoma Of Skin Of Trunk Except Scrotum

  • Malignant Melanoma Of Skin Of Upper Limb

  • Malignant Neck Melanoma

  • Malignant Scalp Melanoma

  • Malignant Trunk Melanoma

  • Malignant Upper Limb Melanoma

  • Melanoma, Cutaneous Malignant

  • Melanoma

  • Malignant Melanoma Of Skin

  • Melanoma Nos

  • Malignant Mole, Meaning Melanoma Of Unspecified Site

  • Melanoma Of Unspecified Site

  • Cutaneous Malignant Melanoma

  • Mm - [Malignant Melanoma]

Uterine Corpus Endometrial Carcinoma
Breast Myoepithelial Neoplasm
  • Breast Myoepithelial Tumor

  • Malignant Breast Myoepithelioma

Breast Adenomyoepithelioma
  • Adenomyoepithelioma Of The Breast

  • Breast Adenomyoepithelioma With Malignant Change

  • Malignant Adenomyoepithelioma Of Breast

Hypersplenism
  • Hypersplenia

  • Big Spleen Syndrome

  • Hyperfunction Of Spleen

  • Increased Splenic Activity

  • Spleen Metaplasia

  • Splenic Metaplasia

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

Wiskott-Aldrich Syndrome
  • WAS

  • Eczema-Thrombocytopenia-Immunodeficiency Syndrome

  • Immunodeficiency 2

  • Aldrich Syndrome

  • Imd2

  • Wiskott-Aldrich Syndrome 1

  • Was1

  • Wiskott Syndrome

  • Wiskott Aldrich Syndrome

  • Eczema Thrombocytopenia Immunodeficiency Syndrome

  • Imd 2

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Systemic Mastocytosis
  • Systemic Mast Cell Disease

  • Systemic Tissue Mast Cell Disease

  • Mastocytosis, Systemic

  • Smcd - Systemic Mast Cell Disease

  • Smcd

  • Mast Cell Disease, Systemic

  • Systemic Mast-Cell Disease

  • Systemic Mastocytoses

  • Mastocytosis Systemic

  • Corneal Dystrophy, Subepithelial Mucinous

  • Smcd - [Systemic Mast Cell Disease]

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
  • Eec Syndrome

  • Rudiger Syndrome 1

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

  • EEC1

  • Eec Syndrome 1

  • Eec Syndrome-1

  • Walker-Clodius Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

  • Eec

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

  • Ectrodactyly-Cleft Lip/Palate Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

  • Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

  • Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

  • Ectrodactyly-Cleft Lip-Palate Syndrome

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Bladder Cancer
  • Urinary Bladder Cancer

  • Bladder Carcinoma

  • Urinary Bladder Carcinoma

  • Bladder Neoplasm

  • Bladder Tumor

  • Cancer, Bladder

  • Malignant Neoplasm Of Urinary Bladder

  • Carcinoma Of Bladder

  • Bladder Cancer, Somatic

  • Tumor Of The Bladder

  • Carcinoma Of Urinary Bladder

  • Bladder Carcinoma Urinary

  • Cancer Of The Urinary Bladder

  • Cancer, Urinary Bladder

  • Malignant Bladder Neoplasm

  • Malignant Bladder Tumor

  • Neoplasm Of The Bladder

  • Neoplasm Of The Urinary Bladder

  • Tumor Of The Urinary Bladder

  • Urinary Bladder Neoplasm

  • BLC

  • Urothelial Carcinoma Of The Bladder

  • Bladder Tumors

  • Urinary Bladder Neoplasms

  • Bladder Cancer Nos

  • Vesical Cancer Nos

  • Malignant Neoplasm Of Bladder, Part Unspecified

  • Malignant Tumour Of Urinary Bladder

  • Primary Malignant Neoplasm Of Bladder

Lambda 5 Deficiency
Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Insulin-Like Growth Factor I
  • Insulin-Like Growth Factor I Deficiency

  • IGF1 DEFICIENCY

  • Insulin-Like Growth Factor I, Resistance To

  • Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

  • Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

  • Growth Delay Due To Insulin-Like Growth Factor I Resistance

  • IGF1RES

  • Igf-I Resistance

  • Somatomedin, End-Organ Insensitivity To

  • Somatomedin-C

  • Somatomedin-C, Resistance To

  • Growth Retardation With Sensorineural Deafness And Mental Retardation

  • Insulin-Like Growth Factor 1 Resistance To

  • Igf-1 Resistance

  • Somatomedin End-Organ Insensitivity To

  • Somatomedin-C Resistance To

  • Growth Restriction With Sensorineural Deafness And Intellectual Disability

  • Growth Delay-Deafness-Intellectual Disability Syndrome

  • Growth Delay-Hearing Loss-Intellectual Disability Syndrome

  • Igf-1 Deficiency

  • Primary Insulin-Like Growth Factor Deficiency

  • Resistance To Igf-1

  • Insulin-Like Growth Factor 1 Resistance

  • End-Organ Insensitivity To Somatomedin

  • Igf1 Resistance

  • Resistance To Insulin-Like Growth Factor I

  • Resistance To Somatomedin-C

  • Insulin-Like Growth Factor 1, Resistance To

Cowden Syndrome 1
  • Bannayan-Riley-Ruvalcaba Syndrome

  • Pten Hamartoma Tumor Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Female Reproductive Endometrioid Cancer
  • Endometrioid Tumor

  • Endometrioid Neoplasm

  • Female Reproductive Endometrioid Neoplasm

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Nijmegen Breakage Syndrome
  • Berlin Breakage Syndrome

  • NBS

  • Microcephaly, Normal Intelligence And Immunodeficiency

  • Ataxia-Telangiectasia Variant

  • Ataxia-Telangiectasia Variant V1

  • Seemanova Syndrome Ii

  • Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

  • Seemanova Syndrome Type 2

  • At-V1

  • Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

  • Immunodeficiency, Microcephaly, And Chromosomal Instability

  • Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

  • Microcephaly Immunodeficiency Lymphoreticuloma

  • Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

  • Seemanova Syndrome 2

  • Ataxia-Telangiectasia Variant 1

  • Seemanova Syndrome

  • At V1

  • Ataxia-Telangiectasia, Variant 1

  • Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

  • V-At

  • Ataxia Telangiectasia Variant V1

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Erythrocytosis, Familial, 1
  • ECYT1

  • Pfcp

  • Primary Familial And Congenital Polycythemia

  • Familial Erythrocytosis 1

  • Familial Erythrocytosis

  • Polycythemia, Primary Familial And Congenital

  • Autosomal Dominant Benign Erythrocytosis

  • Familial Erythrocytosis Type 1

  • Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

  • Congenital Polycythemia Due To Erythropoietin Receptor Mutation

  • Primary Congenital Erythrocytosis

  • Primary Familial Polycythemia

  • Erythrocytosis, Autosomal Dominant Benign

  • Erythrocytosis, Somatic

  • Autosomal Dominant Familial Erythrocytosis-1

  • Erythrocytosis Autosomal Dominant Benign

  • Familial Primary Polycythemia

  • Familial Erythrocytosis, 1

  • Erythrocytosis, Familial, Type 1

Proteus Syndrome
  • Proteus Syndrome, Somatic

  • Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

  • Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

  • Wiedemann'S Syndrome

  • Hemihypertrophy And Macrocephaly

  • Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

  • Ps

  • PROTEUSS

  • Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Uterine Body Mixed Cancer
  • Malignant Mixed Tumor Of Corpus Uteri

  • Malignant Mixed Tumor, Not Otherwise Specified

Uterine Corpus Cancer
  • Corpus Uteri Cancer

  • Malignant Uterine Corpus Neoplasm

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Klippel-Trenaunay-Weber Syndrome
  • Klippel-Trenaunay Syndrome

  • KTS

  • Ktw Syndrome

  • Angioosteohypertrophy Syndrome

  • Angio-Osteohypertrophy Syndrome

  • Klippel Trenaunay Syndrome

  • Klippel-Trénaunay-Weber Syndrome

  • Haemangiectatic Hypertrophy

  • Weber-Klippel-Trenaunay

  • Congenital Dysplastic Angiopathy

  • Klippel-Trenaunay Disease

  • Weber Klippel Trenaunay

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Diabetes Mellitus
  • Diabetes

Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus PIK3R1 MGD MGI:97583
Macaca mulatta PIK3R1 VGNC VGNC:75999
Bos taurus PIK3R1 VGNC VGNC:32894
Felis catus PIK3R1 VGNC VGNC:68858
Rattus norvegicus PIK3R1 RGD RGD:3329
Canis familiaris PIK3R1 VGNC VGNC:44560
Others PIK3R1 NCBI