DEAF1

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.

DEAF1

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.

Anatomical structure morphogenesis Source: ProtInc
Embryonic skeletal system development Source: UniProtKB
Germ cell development Source: ProtInc
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: NTNU_SB
Neural tube closure Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Regulation of mammary gland epithelial cell proliferation Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Transcription by RNA polymerase II Source: ProtInc

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&3: Secreted. Secreted in some cell types.
Isoform 4: Nucleus; Cytoplasm. When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.

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.
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.

May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).