CKDdb-logoCKDdb - Molecule ID A440F

geneATXN1, ATX1, SCA1
nameAtaxin-1
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ATX1_HUMANP54253ENSG000001247886310Hs.434961164400, 601556

Functions and classifications

GOC:cytoplasm, C:nuclear inclusion body, C:nuclear matrix, C:nucleoplasm, F:DNA binding, F:poly(G) RNA binding, F:poly(U) RNA binding, F:protein self-association, P:adult locomotory behavior, P:cell death, P:negative regulation of insulin-like growth factor receptor signaling pathway, P:negative regulation of phosphorylation, P:negative regulation of transcription, DNA-templated, P:nuclear export, P:positive regulation of transcription from RNA polymerase II promoter, P:regulation of excitatory postsynaptic membrane potential, P:RNA processing, P:transcription, DNA-templated, P:visual learning, P:negative regulation of transcription, DNA-dependent, P:transcription, DNA-dependent
UniProt3D-structure, Alternative splicing, Complete proteome, Cytoplasm, DNA-binding, Isopeptide bond, Neurodegeneration, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Repressor, RNA-binding, Spinocerebellar ataxia, Transcription, Transcription regulation, Triplet repeat expansion, Ubl conjugation
PADBtranscription and translation, gene regulation

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.340.00000613RNA microarray19698090

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