Tbio ASXL1 Putative Polycomb group protein ASXL1

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• Q8IXJ9
• B2RP59
• Q5JWS9
• Q8IYY7
• Q9H466
• Q9NQF8
• Q9UFJ0
• Q9UFP8
• Q9Y2I4

Gene Name

• ASXL1

Ensembl ID

• ENST00000375687
• ENSP00000364839
• ENSG00000171456
• ENST00000613218
• ENSP00000480487
• ENST00000620121
• ENSP00000481978

Symbol

• KIAA0978
• MDS
• BOPS

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.98
transcription factor perturbation	0.97
disease perturbation	0.96
transcription factor binding site profile	0.95
biological process	0.89

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 439.14   (req: < 5)

Gene RIFs: 178   (req: <= 3)

Antibodies: 98   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 439.14   (req: >= 5)

Gene RIFs: 178   (req: > 3)

Antibodies: 98   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 22

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0