DEAF1 Antibody – Rabbit Polyclonal

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

DEAF1: a transcription factor that binds to its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE). Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase.

Protein type: Transcription, coactivator/corepressor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: nucleoplasm; transcription factor complex; cytoplasm; nucleolus; extracellular region; nucleus

Molecular Function: protein binding; DNA binding; metal ion binding

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of mammary gland epithelial cell proliferation; anatomical structure morphogenesis; behavioral fear response; embryonic skeletal development; positive regulation of transcription, DNA-dependent; neural tube closure; visual learning; negative regulation of transcription, DNA-dependent; germ cell development

Disease: Mental Retardation, Autosomal Dominant 24