DEAF1
Function
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.
Involvement in disease
Vulto-van Silfout-de Vries syndrome
VSVS
An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures
NEDHELS
An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).
Tissue Specificity
Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls. Highly expressed in fetal and adult brain.
Cellular localization
- Isoform 1
- Nucleus
- Cytoplasm
- Cytoplasmic in non-mucinous colorectal carcinoma. When expressed alone, localized almost exclusively in the nucleus but, when expressed with isoform 4, nuclear expression decreases to 32% and cytoplasmic expression increases by 270%.
- Isoform 2
- Secreted
- Secreted in some cell types.
- Isoform 3
- Secreted
- Secreted in some cell types.
- Isoform 4
- Cytoplasm
- Nucleus
- When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.
Alternative names
SPN, ZMYND5, DEAF1, Deformed epidermal autoregulatory factor 1 homolog, Nuclear DEAF-1-related transcriptional regulator, Suppressin, Zinc finger MYND domain-containing protein 5, NUDR