CKDdb-logoCKDdb - Molecule ID A1016

geneATN1, D12S755E, DRPLA
nameAtrophin-1
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ATN1_HUMANP54259ENSG000001116761822Hs.143766125370, 607462

Functions and classifications

GOC:cell junction, C:cytoplasm, C:nuclear matrix, C:perinuclear region of cytoplasm, F:transcription corepressor activity, P:cell migration, P:central nervous system development, P:maintenance of cell polarity, P:negative regulation of transcription from RNA polymerase II promoter, P:neuron apoptotic process, P:toxin metabolic process, P:transcription, DNA-templated, C:nucleus, C:cell leading edge, P:regulation of neuron differentiation, P:transcription, DNA-dependent
UniProtAcetylation, Cell junction, Complete proteome, Cytoplasm, Epilepsy, Neurodegeneration, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Transcription, Transcription regulation, Triplet repeat expansion
PADBtranscription and translation, gene regulation

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.410.00408RNA microarray19698090
Exp26317775aHomo sapiens53kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)0.475.04E-04RNA microarray26317775

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