DAXX - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
RASSF1	Ras association domain family member 1			Non-small cell lung cancer Bladder cancer Nasopharyngeal cancer
TGFB1	transforming growth factor beta 1	Platelet degranulation Influenza Virus Induced Apoptosis Cell surface interactions at the vascular wall Molecules associated with elastic fibres Downregulation of TGF-beta receptor signaling Downregulation of TGF-beta receptor signaling TGF-beta receptor signaling activates SMADs TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) Syndecan interactions ECM proteoglycans SMAD2/3 Phosphorylation Motif Mutants in Cancer TGFBR2 MSI Frameshift Mutants in Cancer TGFBR2 Kinase Domain Mutants in Cancer TGFBR1 KD Mutants in Cancer TGFBR1 LBD Mutants in Cancer Transcriptional regulation of white adipocyte differentiation UCH proteinases Interleukin-4 and Interleukin-13 signaling RUNX3 regulates CDKN1A transcription Regulation of RUNX3 expression and activity RUNX3 regulates p14-ARF	Hyaluronidase (ovine) Terazosin Hyaluronidase (human recombinant) Foreskin fibroblast (neonatal) Foreskin keratinocyte (neonatal) Hyaluronidase	Graft-versus-host disease Allograft rejection Camurati-Engelmann disease; Progressive diaphyseal dysplasia
TGFBR2	transforming growth factor beta receptor 2	Downregulation of TGF-beta receptor signaling Downregulation of TGF-beta receptor signaling TGF-beta receptor signaling activates SMADs TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) SMAD2/3 Phosphorylation Motif Mutants in Cancer TGFBR2 MSI Frameshift Mutants in Cancer TGFBR2 Kinase Domain Mutants in Cancer TGFBR1 KD Mutants in Cancer TGFBR1 LBD Mutants in Cancer UCH proteinases	Foreskin fibroblast (neonatal) Foreskin keratinocyte (neonatal) Fostamatinib	Colorectal cancer Loeys-Dietz syndrome (LDS) Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
DKC1	dyskerin pseudouridine synthase 1	Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol		Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita (DC), including: X-linked dyskeratosis congenita (DKCX); Autosomal dominant dyskeratosis congenita (DKCA1); Autosomal recessive dyskeratosis congenita (DKCB1)
STAT3	signal transducer and activator of transcription 3	Interleukin-6 signaling BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members Interleukin-7 signaling Interleukin-7 signaling Signaling by SCF-KIT Signaling by cytosolic FGFR1 fusion mutants Downstream signal transduction Signalling to STAT3 Senescence-Associated Secretory Phenotype (SASP) Signaling by Leptin POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Association of TriC/CCT with target proteins during biosynthesis Transcriptional regulation of pluripotent stem cells Interleukin-10 signaling Interleukin-4 and Interleukin-13 signaling PTK6 Activates STAT3 PTK6 Activates STAT3 Interleukin-20 family signaling MET activates STAT3 MET activates STAT3 Interleukin-15 signaling Interleukin-35 Signalling Interleukin-9 signaling Interleukin-37 signaling Interleukin-23 signaling Interleukin-23 signaling Interleukin-27 signaling Interleukin-21 signaling Transcriptional regulation of granulopoiesis Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants Growth hormone receptor signaling	ENMD-1198	Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Oral cancer
AIRE	autoimmune regulator			Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
CARD9	caspase recruitment domain family member 9	NOD1/2 Signaling Pathway CLEC7A (Dectin-1) signaling		Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
CBS	cystathionine beta-synthase	Cysteine formation from homocysteine Cysteine formation from homocysteine Metabolism of ingested SeMet, Sec, MeSec into H2Se	Pyridoxal phosphate Ademetionine Serine Cysteine	Homocystinuria
CREBBP	CREB binding protein	Regulation of gene expression by Hypoxia-inducible Factor RORA activates gene expression BMAL1:CLOCK,NPAS2 activates circadian gene expression 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 Transcriptional activation of mitochondrial biogenesis Activation of gene expression by SREBF (SREBP) 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 Notch-HLH transcription pathway Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation SUMOylation of transcription cofactors Regulation of lipid metabolism by PPARalpha Circadian Clock Activation of anterior HOX genes in hindbrain development during early embryogenesis CD209 (DC-SIGN) signaling TP53 Regulates Transcription of Genes Involved in Cytochrome C Release Activation of the TFAP2 (AP-2) family of transcription factors RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription Estrogen-dependent gene expression TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation FOXO-mediated transcription of cell death genes Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation	9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE	Rubinstein-Taybi syndrome
FANCA	FA complementation group A	Fanconi Anemia Pathway		Fanconi anemia
FASLG	Fas ligand	Caspase activation via Death Receptors in the presence of ligand Regulation by c-FLIP RIPK1-mediated regulated necrosis CASP8 activity is inhibited Interleukin-4 and Interleukin-13 signaling Dimerization of procaspase-8 FasL/ CD95L signaling Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models FOXO-mediated transcription of cell death genes TNFs bind their physiological receptors		Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
HBA1	hemoglobin subunit alpha 1	Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Scavenging of heme from plasma	Iron Dextran Iron Zinc 4-Carboxycinnamic Acid Pentaerythritol tetranitrate 2-[(2-methoxy-5-methylphenoxy)methyl]pyridine 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine Sebacic acid 2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID 2,6-dicarboxynaphthalene Efaproxiral Trimesic acid Nitrous acid Copper Ferric pyrophosphate Sodium ferric gluconate complex Ferrous sulfate anhydrous Ferric pyrophosphate citrate Zinc acetate Ferrous gluconate Ferrous succinate Ferrous ascorbate Ferrous fumarate Ferrous glycine sulfate Zinc chloride Zinc sulfate, unspecified form Voxelotor Ferric derisomaltose	Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
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)
MYH11	myosin heavy chain 11	EPHA-mediated growth cone collapse Sema4D induced cell migration and growth-cone collapse Smooth Muscle Contraction RHO GTPases activate PKNs RHO GTPases activate CIT RHO GTPases Activate ROCKs RHO GTPases activate PAKs RHO GTPases activate PAKs	Tetrafluoroaluminate Ion	Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
PARK7	Parkinsonism associated deglycase	SUMOylation of transcription cofactors Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy	Copper	Parkinson's disease (PD)
PAX5	paired box 5	RUNX1 regulates transcription of genes involved in BCR signaling		Lymphoplasmacytic lymphoma
PLAGL1	PLAG1 like zinc finger 1	TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain		Transient neonatal diabetes mellitus (TNDM)
PML	PML nuclear body scaffold	SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Regulation of TP53 Activity through Acetylation Interferon gamma signaling Regulation of RUNX1 Expression and Activity Regulation of PTEN localization HCMV Early Events	Arsenic trioxide	Acute myeloid leukemia (AML)
SQSTM1	sequestosome 1	NRIF signals cell death from the nucleus p75NTR recruits signalling complexes NF-kB is activated and signals survival PINK1-PRKN Mediated Mitophagy Interleukin-1 signaling Pexophagy		Paget's disease of bone and related disorders, including: ; Paget's disease of bone (PDB); Familial expansile osteolysis (FEO); Early-onset Paget's disease of bone (PDB2); Expansile skeletal hyperphosphatasia (ESH); Juvenile Paget's disease (JPD)
TCF3	transcription factor 3	Myogenesis Myogenesis RUNX1 regulates transcription of genes involved in differentiation of HSCs		Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)

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