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.

Full Name

DEAF1

Biological Process

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

Cellular Location

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.

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.
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.

PTM

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