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]

Description

ASXL transcriptional regulator 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (32358330 - 32439319)

Ensembl ID

ENSG00000171456  (ver. 103.38)

Orthologs

Mouse Asxl1: ENSMUSG00000042548

UniProt

Q8IXJ9

neXtProt

NX_Q8IXJ9

Human splice variants
Mouse splice variants

Protein structure