HOXA9

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. [provided by RefSeq]

homeobox A9

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation.

Anterior/posterior pattern specification Source: GO_Central
Embryonic skeletal system morphogenesis Source: GO_Central
Endothelial cell activation Source: UniProtKB
Multicellular organism development Source: ProtInc
Negative regulation of myeloid cell differentiation Source: UniProtKB
Proximal/distal pattern formation Source: GO_Central
Regulation of transcription by RNA polymerase II Source: GO_Central
Transcription, DNA-templated Source: InterPro

Nucleus

A chromosomal aberration involving HOXA9 is found in a form of acute myeloid leukemia. Translocation t(7;11)(p15;p15) with NUP98 (PubMed:8563753). The chimera includes NUP98 intrinsic disordered regions which contribute to aberrant liquid-liquid phase separation puncta of the chimera in the nucleus. This phase-separation enhances the chimera genomic targeting and induces organization of aberrant three-dimensional chromatin structures leading to tumourous transformation (PubMed:34163069).
A chromosomal aberration involving HOXA9 may contribute to disease progression in chronic myeloid leukemia. Translocation t(7;17)(p15;q23) with MSI2.

Methylated on Arg-140 by PRMT5; methylation is critical for E-selectin induction.