DEAF1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DEAF1 |
| Official Name | DEAF1 transcription factor [Source:HGNC Symbol;Acc:HGNC:14677] |
| Ensembl ID | ENSG00000177030 |
| Bio databases IDs | |
| Aliases | DEAF1 transcription factor |
| Synonyms | C230009B13Rik, DEAF1 transcription factor, DEAF1, transcription factor, LOC105376508, MRD24, NEDHELS, NUDR, NUDR8, SPN, SUPPRESSIN, VSVS, ZMYND5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DEAF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nuclear export signal
- MYND finger
- nucleic acid binding
- nuclear localization sequence
- protein binding
- zinc binding domain
- sequence-specific DNA binding
- proline rich domain
- zinc finger homology domain
- LIM binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix-loop-helix domain
- SAND domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin-dependent diabetes mellitus
- COVID-19
- primary biliary cirrhosis
- dyskinesia, seizures, and intellectual developmental disorder
- autosomal dominant mental retardation type 24
- neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures
- hereditary disorder
- pervasive developmental disorder
- autism
- depressive disorder
role in cell
- expression in
- number
- development
- transcription in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- Cytoplasm
- Extracellular Space
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEAF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- 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
- transcription from RNA polymerase II promoter
- anatomical structure morphogenesis
- embryonic skeletal system development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- extracellular region
- chromatin
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity