BCKDK - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	Branched-chain amino acid catabolism BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV Loss-of-function mutations in DBT cause MSUD2 Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD Loss-of-function mutations in DLD cause MSUD3/DLDD Branched-chain ketoacid dehydrogenase kinase deficiency H139Hfs13* PPM1K causes a mild variant of MSUD		Maple syrup urine disease (MSUD)
Novel	CDIPT	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	Synthesis of PI	scyllo-inositol
Novel	EIF3C	eukaryotic translation initiation factor 3 subunit C	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits Formation of the ternary complex, and subsequently, the 43S complex Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit
Novel	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
Novel	GUCA1A	guanylate cyclase activator 1A	Inactivation, recovery and regulation of the phototransduction cascade	Myristic acid	Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
Novel	PCDHB9	protocadherin beta 9
Novel	QPRT	quinolinate phosphoribosyltransferase	Nicotinate metabolism	Niacin
Novel	SETD1A	SET domain containing 1A, histone lysine methyltransferase	PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Formation of WDR5-containing histone-modifying complexes
Novel	TAOK2	TAO kinase 2		Dexfosfoserine Fostamatinib
Novel	ZNF267	zinc finger protein 267	Generic Transcription Pathway
	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-dependent IKK and NF-kappa-B activation 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) Gantenerumab Aducanumab Zinc acetate Aluminium phosphate Aluminum acetate Zinc chloride Zinc sulfate, unspecified form Lecanemab	Alzheimer's disease (AD)
	EPS8	EGFR pathway substrate 8, signaling adaptor	Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea
	FBXO7	F-box protein 7	Neddylation Antigen processing: Ubiquitination & Proteasome degradation		Parkinson's disease (PD)
	FXR1	FMR1 autosomal homolog 1	Signaling by BRAF and RAF1 fusions
	FXR2	FMR1 autosomal homolog 2
	LSM8	LSM8 homolog, U6 small nuclear RNA associated	mRNA Splicing - Major Pathway
	NR5A2	nuclear receptor subfamily 5 group A member 2	Estrogen-dependent gene expression
	SPTA1	spectrin alpha, erythrocytic 1	NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport		Hereditary spherocytosis (SPH) Hereditary elliptocytosis (HE)
	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 Signaling by ALK 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 Signaling by CSF3 (G-CSF) Signaling by CSF1 (M-CSF) in myeloid cells STAT3 nuclear events downstream of ALK signaling Inactivation of CSF3 (G-CSF) signaling Cytoprotection by HMOX1 Signaling by ALK fusions and activated point mutants Nuclear events stimulated by ALK signaling in cancer Growth hormone receptor signaling PKR-mediated signaling Regulation of PD-L1(CD274) transcription	ENMD-1198 OPB-111077	Oral cancer 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)
	TRAF4	TNF receptor associated factor 4

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