CKDdb-logoCKDdb - Molecule ID A441F

geneATXN3, MJD, MJD1
nameAtaxin-3
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ATX3_HUMANP54252ENSG000000664274287Hs.532632109150, 607047

Functions and classifications

GOC:cytoplasm, C:nuclear matrix, C:nucleoplasm, F:omega peptidase activity, F:ubiquitin protein ligase binding, F:ubiquitin thiolesterase activity, F:ubiquitin-specific protease activity, P:actin cytoskeleton organization, P:cell death, P:cellular response to misfolded protein, P:intermediate filament cytoskeleton organization, P:microtubule cytoskeleton organization, P:misfolded or incompletely synthesized protein catabolic process, P:monoubiquitinated protein deubiquitination, P:nervous system development, P:nucleotide-excision repair, P:proteasome-mediated ubiquitin-dependent protein catabolic process, P:regulation of cell-substrate adhesion, P:regulation of transcription, DNA-templated, P:synaptic transmission, P:transcription, DNA-templated, P:metabolic process, P:proteasomal ubiquitin-dependent protein catabolic process, P:regulation of transcription, DNA-dependent, P:transcription, DNA-dependent
UniProt3D-structure, Alternative splicing, Complete proteome, Hydrolase, Isopeptide bond, Neurodegeneration, Nucleus, Phosphoprotein, Polymorphism, Protease, Reference proteome, Repeat, Spinocerebellar ataxia, Thiol protease, Transcription, Transcription regulation, Triplet repeat expansion, Ubl conjugation, Ubl conjugation pathway
PADBenzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.280.000484RNA microarray19698090
Exp25770168Homo sapiens17bloodmononuclear cellsGlomerulonephritis (IgA nephropathy)5.280.004RNA microarray25770168
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.422.54E-05RNA microarray26317775
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)2.081.11E-03RNA microarray26317775

Compile date 08-10-2018© iMODE-CKD consortium