CKDdb-logoCKDdb - Molecule ID A038F

geneASXL1, ASXH1
namePutative Polycomb group protein ASXL1
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ASXL1_HUMANQ8IXJ9ENSG00000171456171023Hs.374043605039, 612990, 614286

Functions and classifications

GOC:nuclear chromatin, C:PR-DUB complex, F:DNA binding, F:metal ion binding, F:peroxisome proliferator activated receptor binding, F:retinoic acid receptor binding, F:transcription coactivator activity, F:transcription corepressor activity, P:bone development, P:monoubiquitinated histone H2A deubiquitination, P:negative regulation of fat cell differentiation, P:negative regulation of peroxisome proliferator activated receptor signaling pathway, P:negative regulation of retinoic acid receptor signaling pathway, P:negative regulation of transcription from RNA polymerase II promoter, P:positive regulation of retinoic acid receptor signaling pathway, P:positive regulation of transcription from RNA polymerase II promoter, P:response to retinoic acid, P:transcription, DNA-templated, "F:DNA binding, P:regulation of transcription, DNA-templated, "P:regulation of transcription, DNA-templated, P:transcription, DNA-dependent"
UniProtAlternative splicing, Chromatin regulator, Complete proteome, Craniosynostosis, Metal-binding, Nucleus, Polymorphism, Reference proteome, Repressor, Transcription, Transcription regulation, Ubl conjugation pathway, Zinc, Zinc-finger, Phosphoprotein
PADBTF: transcription and translation, gene regulation

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp26317775bHomo sapiens8kidneybiopsy specimensChronic_Renal_Insufficiency (CKD)3.430.013999RNA microarray26317775

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