| UniProt Protein Function: | 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/chemotaxisChromosomal Location of Human Ortholog: 11p15.5Cellular Component: cytoplasm; nucleolus; nucleoplasm; nucleusMolecular Function: protein binding; transcription factor activityBiological Process: anatomical structure morphogenesis; embryonic skeletal development; germ cell development; negative regulation of transcription, DNA-dependent; neural tube closure; positive regulation of transcription, DNA-dependent; regulation of mammary gland epithelial cell proliferation; regulation of transcription from RNA polymerase II promoterDisease: Mental Retardation, Autosomal Dominant 24 |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | O75398 |
| NCBI GenInfo Identifier: | 22256747 |
| NCBI Gene ID: | 10522 |
| NCBI Accession: | O75398.1 |
| UniProt Secondary Accession: | O75398,O15152, O75399, O75510, O75511, O75512, O75513 Q9UET1, A8K1F8, A8K5R8 |
| UniProt Related Accession: | O75398 |
| Molecular Weight: | 51,277 Da |
| NCBI Full Name: | Deformed epidermal autoregulatory factor 1 homolog |
| NCBI Synonym Full Names: | DEAF1, transcription factor |
| NCBI Official Symbol: | DEAF1 |
| NCBI Official Synonym Symbols: | SPN; NUDR; MRD24; ZMYND5 |
| NCBI Protein Information: | deformed epidermal autoregulatory factor 1 homolog |
| UniProt Protein Name: | Deformed epidermal autoregulatory factor 1 homolog |
| UniProt Synonym Protein Names: | Nuclear DEAF-1-related transcriptional regulator; NUDR; Suppressin; Zinc finger MYND domain-containing protein 5 |
| Protein Family: | Deformed epidermal autoregulatory factor |
| UniProt Gene Name: | DEAF1 |
| UniProt Entry Name: | DEAF1_HUMAN |
