ATXN1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
EHMT1	euchromatic histone lysine methyltransferase 1	Senescence-Associated Secretory Phenotype (SASP) PKMTs methylate histone lysines Regulation of TP53 Activity through Methylation Transcriptional Regulation by VENTX Transcriptional Regulation by E2F6		Kleefstra syndrome; 9q Subtelomeric deletion syndrome
IGF2R	insulin like growth factor 2 receptor	Golgi Associated Vesicle Biogenesis Neutrophil degranulation Retrograde transport at the Trans-Golgi-Network Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis	Mecasermin alpha-D-mannose 6-phosphate Cerliponase alfa Mecasermin rinfabate	Hepatocellular carcinoma
ITGB4	integrin subunit beta 4	Assembly of collagen fibrils and other multimeric structures Laminin interactions Syndecan interactions Type I hemidesmosome assembly	R1295	Epidermolysis bullosa, junctional, including: Epidermolysis bullosa, junctional, Herlitz type (JEB-H); Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH); Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
KLF11	Kruppel like factor 11			Maturity onset diabetes of the young (MODY)
LITAF	lipopolysaccharide induced TNF factor			Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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)
POMP	proteasome maturation protein			Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK syndrome
REL	REL proto-oncogene, NF-kB subunit	Activation of NF-kappaB in B cells		Hodgkin lymphoma
SIX5	SIX homeobox 5			Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)
TBX15	T-box transcription factor 15			Cousin syndrome
TCAP	titin-cap	Striated Muscle Contraction		Limb-girdle muscular dystrophy (LGMD)
TRIM32	tripartite motif containing 32	Regulation of innate immune responses to cytosolic DNA Antigen processing: Ubiquitination & Proteasome degradation		Bardet-Biedl syndrome (BBS)
TTC19	tetratricopeptide repeat domain 19			Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
VCP	valosin containing protein	Translesion Synthesis by POLH HSF1 activation ABC-family proteins mediated transport N-glycan trimming in the ER and Calnexin/Calreticulin cycle Hedgehog ligand biogenesis Hh mutants are degraded by ERAD Defective CFTR causes cystic fibrosis Josephin domain DUBs Ovarian tumor domain proteases Neutrophil degranulation E3 ubiquitin ligases ubiquitinate target proteins Protein methylation Aggrephagy Attachment and Entry Attachment and Entry	Phosphoaminophosphonic Acid-Adenylate Ester Phenethyl Isothiocyanate	Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
WNK1	WNK lysine deficient protein kinase 1	Stimuli-sensing channels		Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane Signaling by Hippo NADE modulates death signalling Regulation of PLK1 Activity at G2/M Transition Regulation of HSF1-mediated heat shock response HSF1 activation Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex AURKA Activation by TPX2 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models RAB GEFs exchange GTP for GDP on RABs	Fusicoccin Phenethyl Isothiocyanate	Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
-	uncharacterized LOC401442
ACACA	acetyl-CoA carboxylase alpha	ChREBP activates metabolic gene expression Biotin transport and metabolism Carnitine metabolism Activation of gene expression by SREBF (SREBP) Defective HLCS causes multiple carboxylase deficiency Fatty acyl-CoA biosynthesis	Biotin
ACOT7	acyl-CoA thioesterase 7	Mitochondrial Fatty Acid Beta-Oxidation
ADAM15	ADAM metallopeptidase domain 15	Degradation of the extracellular matrix Invadopodia formation

Search Results for: ATXN1