DEAF1

Chr 11p15.5

DEAF1 transcription factor

Aliases:: NUDR, SPN, ZMYND5
MANE:: ENST00000382409.4

OMIM: 602635 ↗NCBI: 10522 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DEAF1 · O75398

v62025-08-01

Predicted Aligned Error matrix for DEAF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.4/ 100

Low

565 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)10%
Low(50–70)12%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual disability, autosomal dominant 24
0.78
intellectual disability-epilepsy-extrapyramidal syndrome
0.71
intellectual developmental disorder with paroxysmal dyskinesia or seizures
0.55
autosomal dominant non-syndromic intellectual disability
0.53
hereditary disease
0.51
Neurodevelopmental delay
0.41
autism spectrum disorder
0.36
autism
0.34
developmental disability
0.27
Intellectual disability
0.15

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Deformed epidermal autoregulatory factor 1 homolog

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