PBRM1 - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	AMIGO3	adhesion molecule with Ig like domain 3
Novel	B4GALT7	beta-1,4-galactosyltransferase 7	A tetrasaccharide linker sequence is required for GAG synthesis Defective B4GALT7 causes EDS, progeroid type		Ehlers-Danlos syndrome (EDS), including: EDS classical type (EDS1/2); EDS hypermobility type (EDS3); EDS vascular type (EDS4); EDS kyphoscoliosis type (EDS6); EDS arthrochalasia type (EDS7A/7B); EDS dermatospraxis type (EDS7C); EDS autosomal recessive cardiac valvular form (EDSCV); EDS musculocontractural type (EDSMC); EDS progeroid form (EDSP); Tenascin-X deficiency (TNXD); Brittle cornea syndrome (EDS6B); EDS-like spondylocheiro dysplasia (SCD-EDS) Ehlers-Danlos syndrome, progeroid form
Novel	CCRL2	C-C motif chemokine receptor like 2	Chemokine receptors bind chemokines
Novel	CELSR3	cadherin EGF LAG seven-pass G-type receptor 3
Novel	FBXW8	F-box and WD repeat domain containing 8	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
Novel	FDX1	ferredoxin 1	Mitochondrial iron-sulfur cluster biogenesis Pregnenolone biosynthesis Endogenous sterols Electron transport from NADPH to Ferredoxin Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)	Mitotane
Novel	HSD17B7	hydroxysteroid 17-beta dehydrogenase 7	Cholesterol biosynthesis	NADH
Novel	PCBP4	poly(rC) binding protein 4	TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Transcriptional activation of cell cycle inhibitor p21 FOXO-mediated transcription of cell cycle genes
Novel	RFX3	regulatory factor X3
Novel	SS18L2	SS18 like 2
Novel	TMIE	transmembrane inner ear			Deafness, autosomal recessive
	APP	amyloid beta precursor protein	Platelet degranulation ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) G alpha (q) signalling events G alpha (i) signalling events Lysosome Vesicle Biogenesis Formyl peptide receptors bind formyl peptides and many other ligands TAK1 activates NFkB by phosphorylation and activation of IKKs complex The NLRP3 inflammasome Advanced glycosylation endproduct receptor signaling Advanced glycosylation endproduct receptor signaling Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Post-translational protein phosphorylation TRAF6 mediated NF-kB activation Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Purinergic signaling in leishmaniasis infection Amyloid fiber formation	Deferoxamine Aluminium Zinc L-methionine (R)-S-oxide Resveratrol Tromethamine Phenserine Tetrathiomolybdate CAD106 Mito-4509 Edonerpic Dimercaprol Copper Florbetaben (18F) Florbetapir (18F) Flutemetamol (18F) Zinc acetate Aluminium phosphate Aluminum acetate Zinc chloride Zinc sulfate, unspecified form	Alzheimer's disease (AD)
	H2AC20	H2A clustered histone 20	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence HDACs deacetylate histones HATs acetylate histones HATs acetylate histones RMTs methylate histone arginines SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 UCH proteinases Ub-specific processing proteases Metalloprotease DUBs Deposition of new CENPA-containing nucleosomes at the centromere RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Amyloid fiber formation
	H2BC21	H2B clustered histone 21	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence HDACs deacetylate histones HATs acetylate histones HATs acetylate histones SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Ub-specific processing proteases 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 Deposition of new CENPA-containing nucleosomes at the centromere G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Amyloid fiber formation
	H3C1	H3 clustered histone 1	Interleukin-7 signaling Interleukin-7 signaling Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) HDACs deacetylate histones PKMTs methylate histone lysines HDMs demethylate histones HATs acetylate histones HATs acetylate histones RMTs methylate histone arginines Chromatin modifying enzymes SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Amyloid fiber formation Factors involved in megakaryocyte development and platelet production
	H4C1	H4 clustered histone 1	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence HDACs deacetylate histones PKMTs methylate histone lysines HDMs demethylate histones HATs acetylate histones HATs acetylate histones RMTs methylate histone arginines SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression SUMOylation of chromatin organization proteins B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 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 Deposition of new CENPA-containing nucleosomes at the centromere G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Amyloid fiber formation
	PTEN	phosphatase and tensin homolog	Synthesis of PIPs at the plasma membrane Synthesis of IP3 and IP4 in the cytosol Negative regulation of the PI3K/AKT network Downstream TCR signaling TP53 Regulates Metabolic Genes PTEN Loss of Function in Cancer Ub-specific processing proteases Ovarian tumor domain proteases Regulation of PTEN mRNA translation Regulation of PTEN localization Regulation of PTEN stability and activity Transcriptional Regulation by MECP2	Phosphatidylethanolamine	Vulvar cancer Prostate cancer Endometrial Cancer Glioma Small cell lung cancer Breast cancer Hepatocellular carcinoma Malignant melanoma
	PTS	6-pyruvoyltetrahydropterin synthase	Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation	Mycophenolate mofetil Biopterin	Phenylketonuria (PKU); Hyperphenylalaninemia, BH4-deficient
	SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	Interleukin-7 signaling Formation of the beta-catenin:TCF transactivating complex RMTs methylate histone arginines Chromatin modifying enzymes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known EGR2 and SOX10-mediated initiation of Schwann cell myelination EGR2 and SOX10-mediated initiation of Schwann cell myelination
	SUMO2	small ubiquitin like modifier 2	Vitamin D (calciferol) metabolism SUMO is conjugated to E1 (UBA2:SAE1) SUMO is transferred from E1 to E2 (UBE2I, UBC9) SUMO is proteolytically processed SUMOylation of DNA damage response and repair proteins SUMOylation of transcription factors SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of intracellular receptors SUMOylation of intracellular receptors SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins Processing of DNA double-strand break ends Formation of Incision Complex in GG-NER

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