DISEASES

Disease-gene associations mined from literature

Literature associating ASXL1 and acute myeloid leukemia

ASXL1 [ENSP00000364839]

Polycomb group protein ASXL1; Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) . Acts as coactivator of RARA and RXRA through association with NCOA1 . Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non- catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) . Acts as a sensor of N(6)- methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing . ECO:0000269|PubMed:16606617, ECO:0000269|PubMed:20436459,

Synonyms:  ASXL1,  ASXL1p,  hASXL1,  A0A087WWN0,  A0A2R8Y4U9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM