Aliases for DEAF1 Gene
External Ids for DEAF1 Gene
Previous GeneCards Identifiers for DEAF1 Gene
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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for DEAF1 Gene
DEAF1 (DEAF1, Transcription Factor) is a Protein Coding gene. Diseases associated with DEAF1 include Mental Retardation, Autosomal Dominant 24 and Intellectual Disability-Epilepsy-Extrapyramidal Syndrome. Among its related pathways are SIDS Susceptibility Pathways. An important paralog of this gene is CBFA2T3.
UniProtKB/Swiss-Prot for DEAF1 Gene
Transcription factor that binds to sequence with multiple copies of 5-TTC[CG]G-3 present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5-AGGGTTCACCGAAAGTTCA-3. 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. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.