ASXL1

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

additional sex combs like 1,transcriptional regulator

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) (PubMed:16606617).
Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617).
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) (PubMed:20436459).
Acts as a sensor of N6-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 (PubMed:30982744).

Animal organ morphogenesis Source: GO_Central
Bone marrow development Source: Ensembl
Cell morphogenesis Source: Ensembl
Glomerular visceral epithelial cell development Source: Ensembl
Heart morphogenesis Source: Ensembl
Hemopoiesis Source: Ensembl
Homeostasis of number of cells Source: Ensembl
Lung saccule development Source: Ensembl
Monoubiquitinated histone H2A deubiquitination Source: UniProtKB
Negative regulation of fat cell differentiation Source: UniProtKB
Negative regulation of lipid storage Source: Ensembl
Negative regulation of peroxisome proliferator activated receptor signaling pathway Source: UniProtKB
Positive regulation of retinoic acid receptor signaling pathway Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Protein deubiquitination Source: Reactome
Regulation of kidney size Source: Ensembl
Response to retinoic acid Source: UniProtKB
Thymus development Source: Ensembl
Transcription, DNA-templated Source: InterPro

Nucleus

Bohring-Opitz syndrome (BOPS): A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.
Myelodysplastic syndrome (MDS): A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).

Ubiquitinated by TRIP12, leading to its subsequent degradation following binding N6-methyladenosine methylated DNA (m6A).