Full name: ASXL transcriptional regulator 1

Gene type: protein coding

RefSeq status: VALIDATED

Summary: Enables peroxisome proliferator activated receptor binding activity; retinoic acid receptor binding activity; and transcription coactivator activity. Involved in several processes, including kidney development; negative regulation of fat cell differentiation; and regulation of signal transduction. Acts upstream of or within animal organ development; cell morphogenesis; and homeostasis of number of cells. Located in nucleus. Is expressed in several structures, including limb bud; lung; nervous system; paraxial mesenchyme; and salivary gland. Used to study acute myeloid leukemia; myelodysplastic syndrome; and myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis. Orthologous to human ASXL1 (ASXL transcriptional regulator 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.0), testis adult (RPKM 10.6) and 28 other tissues

Gene size: 58178bp

Exon count: 16