ATXN1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
MSMO1	methylsterol monooxygenase 1	Cholesterol biosynthesis Cholesterol biosynthesis via lathosterol	NADH
MSX2	msh homeobox 2	Regulation of RUNX2 expression and activity		Enlarged parietal foramina/cranium bifidum Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
MTERF4	mitochondrial transcription termination factor 4	rRNA modification in the mitochondrion
MYO18A	myosin XVIIIA	Signaling by cytosolic FGFR1 fusion mutants Signaling by FGFR1 in disease Signaling by FLT3 fusion proteins Signaling by FLT3 fusion proteins
NARS1	asparaginyl-tRNA synthetase 1	Cytosolic tRNA aminoacylation	Asparagine
NCAM1	neural cell adhesion molecule 1	ECM proteoglycans NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth NCAM1 interactions NCAM1 interactions Signal transduction by L1 RAF/MAP kinase cascade Interferon gamma signaling
NCOR1	nuclear receptor corepressor 1	Nuclear signaling by ERBB4 Nuclear signaling by ERBB4 PPARA activates gene expression PPARA activates gene expression NOTCH1 Intracellular Domain Regulates Transcription Transcriptional activation of mitochondrial biogenesis Downregulation of SMAD2/3:SMAD4 transcriptional activity Downregulation of SMAD2/3:SMAD4 transcriptional activity Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants HDACs deacetylate histones Notch-HLH transcription pathway Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation Nuclear Receptor transcription pathway Regulation of lipid metabolism by PPARalpha Activation of anterior HOX genes in hindbrain development during early embryogenesis Loss of MECP2 binding ability to the NCoR/SMRT complex Regulation of MECP2 expression and activity NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux HCMV Early Events NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis Cytoprotection by HMOX1 Heme signaling Heme signaling MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Expression of BMAL (ARNTL), CLOCK, and NPAS2 Expression of BMAL (ARNTL), CLOCK, and NPAS2 RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
NCOR2	nuclear receptor corepressor 2	PPARA activates gene expression NOTCH1 Intracellular Domain Regulates Transcription Downregulation of SMAD2/3:SMAD4 transcriptional activity Downregulation of SMAD2/3:SMAD4 transcriptional activity Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants HDACs deacetylate histones Notch-HLH transcription pathway Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation Nuclear Receptor transcription pathway SUMOylation of transcription cofactors Regulation of lipid metabolism by PPARalpha Loss of MECP2 binding ability to the NCoR/SMRT complex Regulation of MECP2 expression and activity NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux HCMV Early Events NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis Cytoprotection by HMOX1 MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
NFYA	nuclear transcription factor Y subunit alpha	PPARA activates gene expression Activation of gene expression by SREBF (SREBP) Activation of gene expression by SREBF (SREBP) ATF4 activates genes in response to endoplasmic reticulum stress ATF6 (ATF6-alpha) activates chaperone genes ATF6 (ATF6-alpha) activates chaperone genes FOXO-mediated transcription of cell death genes
NHSL2	NHS like 2
NLGN3	neuroligin 3	Neurexins and neuroligins Neurexins and neuroligins
NLK	nemo like kinase	Ca2+ pathway
NPHP3	nephrocystin 3	Trafficking of myristoylated proteins to the cilium		Renal-hepatic-pancreatic dysplasia Meckel syndrome (MKS); Meckel-Gruber syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Senior-Loken syndrome
NR4A1	nuclear receptor subfamily 4 group A member 1	AKT phosphorylates targets in the nucleus Nuclear Receptor transcription pathway Constitutive Signaling by AKT1 E17K in Cancer
NUDT21	nudix hydrolase 21	mRNA 3'-end processing Processing of Capped Intron-Containing Pre-mRNA RNA Polymerase II Transcription Termination Processing of Intronless Pre-mRNAs
NUMBL	NUMB like endocytic adaptor protein
NUTM2B	NUT family member 2B
OAZ1	ornithine decarboxylase antizyme 1	Regulation of ornithine decarboxylase (ODC) Metabolism of polyamines	Ornithine
OPCML	opioid binding protein/cell adhesion molecule like	Post-translational modification: synthesis of GPI-anchored proteins
OTX2	orthodenticle homeobox 2	Formation of the anterior neural plate Formation of the posterior neural plate		Anophthalmia and microphthalmia (A/M) Septo-optic dysplasia

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