ESR1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
CUL4B	cullin 4B	Recognition of DNA damage by PCNA-containing replication complex DNA Damage Recognition in GG-NER Formation of Incision Complex in GG-NER Dual Incision in GG-NER Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Neddylation		Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
DDX5	DEAD-box helicase 5	SUMOylation of transcription cofactors mRNA Splicing - Major Pathway Estrogen-dependent gene expression Replication of the SARS-CoV-1 genome Replication of the SARS-CoV-2 genome	Artenimol	Prostate cancer
EP300	E1A binding protein p300	Regulation of gene expression by Hypoxia-inducible Factor RORA activates gene expression Polo-like kinase mediated events Pre-NOTCH Transcription and Translation Pre-NOTCH Transcription and Translation PPARA activates gene expression PPARA activates gene expression Formation of the beta-catenin:TCF transactivating complex Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription NOTCH2 intracellular domain regulates transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production HATs acetylate histones Attenuation phase Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation SUMOylation of transcription cofactors Circadian Clock B-WICH complex positively regulates rRNA expression Activation of anterior HOX genes in hindbrain development during early embryogenesis CD209 (DC-SIGN) signaling Metalloprotease DUBs Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Methylation PI5P Regulates TP53 Acetylation Activation of the TFAP2 (AP-2) family of transcription factors RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling Regulation of RUNX3 expression and activity RUNX3 regulates p14-ARF NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription Estrogen-dependent gene expression NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux NGF-stimulated transcription NGF-stimulated transcription TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation FOXO-mediated transcription of cell death genes Transcriptional regulation of granulopoiesis Transcriptional regulation of granulopoiesis Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation		Rubinstein-Taybi syndrome
EPAS1	endothelial PAS domain protein 1	Regulation of gene expression by Hypoxia-inducible Factor Cellular response to hypoxia Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Transcriptional regulation of pluripotent stem cells PTK6 Expression Neddylation Pexophagy	PT2977	Congenital polycythemia; Familial erythrocytosis (ECYT)
FOXO1	forkhead box O1	AKT phosphorylates targets in the nucleus Regulation of gene expression in beta cells AKT-mediated inactivation of FOXO1A Constitutive Signaling by AKT1 E17K in Cancer MAPK6/MAPK4 signaling Interleukin-4 and Interleukin-13 signaling Regulation of localization of FOXO transcription factors FOXO-mediated transcription of cell death genes FOXO-mediated transcription of cell death genes FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation FOXO-mediated transcription of cell cycle genes FOXO-mediated transcription of cell cycle genes		Alveolar rhabdomyosarcoma
HDAC4	histone deacetylase 4	NOTCH1 Intracellular Domain Regulates Transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Notch-HLH transcription pathway SUMOylation of intracellular receptors SUMOylation of chromatin organization proteins RUNX2 regulates chondrocyte maturation RUNX3 regulates p14-ARF	Zinc Belinostat Romidepsin Panobinostat N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide 2,2,2-TRIFLUORO-1-{5-[(3-PHENYL-5,6-DIHYDROIMIDAZO[1,2-A]PYRAZIN-7(8H)-YL)CARBONYL]THIOPHEN-2-YL}ETHANE-1,1-DIOL Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
HNF4A	hepatocyte nuclear factor 4 alpha	Nuclear Receptor transcription pathway	Lauric acid AVI-4557 Myristic acid	Maturity onset diabetes of the young (MODY)
HSPB1	heat shock protein family B (small) member 1	VEGFA-VEGFR2 Pathway AUF1 (hnRNP D0) binds and destabilizes mRNA MAPK6/MAPK4 signaling Extra-nuclear estrogen signaling	Apatorsen Artenimol Phenethyl Isothiocyanate	Distal hereditary motor neuropathies (dHMN)
KARS1	lysyl-tRNA synthetase 1	Selenoamino acid metabolism Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation	L-Lysine	Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
KMT2D	lysine methyltransferase 2D	Formation of the beta-catenin:TCF transactivating complex PKMTs methylate histone lysines Deactivation of the beta-catenin transactivating complex Activation of anterior HOX genes in hindbrain development during early embryogenesis RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function		Kabuki syndrome
LCK	LCK proto-oncogene, Src family tyrosine kinase	GPVI-mediated activation cascade PIP3 activates AKT signaling Signaling by SCF-KIT Signaling by SCF-KIT Regulation of KIT signaling Nef and signal transduction Nef Mediated CD4 Down-regulation Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules PECAM1 interactions Constitutive Signaling by Aberrant PI3K in Cancer DAP12 signaling DAP12 signaling CD28 co-stimulation CD28 dependent PI3K/Akt signaling CD28 dependent Vav1 pathway CTLA4 inhibitory signaling PD-1 signaling PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Interleukin-2 signaling Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants FLT3 signaling through SRC family kinases	Dasatinib AP-22408 Staurosporine 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine {4-[(2S)-2-Acetamido-3-({(1S)-1-[3-carbamoyl-4-(cyclohexylmethoxy)phenyl]ethyl}amino)-3-oxopropyl]-2-phosphonophenoxy}acetic acid Phosphoaminophosphonic Acid-Adenylate Ester 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine Ponatinib Nintedanib Fostamatinib Zanubrutinib	Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
MTHFD1	methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1	Metabolism of folate and pterines	Tetrahydrofolic acid NADH LY374571 Nicotinamide adenine dinucleotide phosphate LY249543	Spina bifida
NCOA4	nuclear receptor coactivator 4			Thyroid cancer
NPPA	natriuretic peptide A	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors Amyloid fiber formation		Atrial fibrillation
NSD2	nuclear receptor binding SET domain protein 2	PKMTs methylate histone lysines Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends G2/M DNA damage checkpoint		Multiple myeloma
PPIB	peptidylprolyl isomerase B	Collagen biosynthesis and modifying enzymes	Proline 1,4-Dithiothreitol	Osteogenesis imperfecta
PRKCSH	protein kinase C substrate 80K-H	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) N-glycan trimming in the ER and Calnexin/Calreticulin cycle Advanced glycosylation endproduct receptor signaling Post-translational protein phosphorylation Calnexin/calreticulin cycle Maturation of spike protein Maturation of spike protein		Polycystic liver disease
SMAD2	SMAD family member 2	Signaling by NODAL Signaling by NODAL Signaling by Activin Downregulation of TGF-beta receptor signaling TGF-beta receptor signaling activates SMADs Downregulation of SMAD2/3:SMAD4 transcriptional activity Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription SMAD2/3 Phosphorylation Motif Mutants in Cancer SMAD4 MH2 Domain Mutants in Cancer SMAD2/3 MH2 Domain Mutants in Cancer TGFBR1 KD Mutants in Cancer Transcriptional regulation of pluripotent stem cells Ub-specific processing proteases FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of cell cycle genes FOXO-mediated transcription of cell cycle genes	Dexfosfoserine	Colorectal cancer
SMC1A	structural maintenance of chromosomes 1A	Meiotic synapsis Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression		Cornelia de Lange syndrome (CdLS)
SMC3	structural maintenance of chromosomes 3	Meiotic synapsis Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion Cohesin Loading onto Chromatin Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins Estrogen-dependent gene expression		Cornelia de Lange syndrome (CdLS)

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