protein
Deformed epidermal autoregulatory factor 1 homolog
Gene
DEAF1
Organism
Homo sapiens(9606)
Length
565 aa
Mass
59,327 Da
DEAF1 is a transcription factor that regulates gene expression through binding to specific DNA sequences, including those in its own promoter and the HNRPA2B1 gene (UniProt: O75398). The protein also activates the proenkephalin gene and functions as a transcriptional activator of EIF4G3. When secreted, DEAF1 inhibits cell proliferation and arrests cells in G0/G1 phase. Multiple isoforms exist with varying transcriptional activities, with isoform 4 potentially inhibiting isoform 1 through cytoplasmic retention.
DEAF1 is essential for neural tube closure and skeletal patterning during development, and regulates epithelial cell proliferation in the mammary gland and pancreatic lymph node tissue antigen expression. Mutations in DEAF1 cause two neurodevelopmental disorders: Vulto-van Silfout-de Vries syndrome (VSVS), an autosomal dominant condition featuring intellectual disability, motor delay, and autistic features alongside seizures and hypotonia; and neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (NEDHELS), an autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, and autistic features.
DEAF1 is classified as SFARI Category 1 (syndromic) (SFARI Cat 1), indicating strong evidence for association with autism spectrum disorder in syndromic presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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
Disease associations
Vulto-van Silfout-de Vries syndromeVSVS
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 seizuresNEDHELS
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.
Sources
Last updated 5/6/2026, 5:25:39 AM