AlphaFold predicted structure
CUX1 · P39880
Mean pLDDT
61.3/ 100
Low
1,505 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)20%
- Low(50–70)6%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CUX1
Chr 7q22.1cut like homeobox 1
- Aliases:
- CDP, CDP1, CUX, CUT, Clox
- MANE:
- ENST00000292535.12
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCytopenias and congenital anaemias
Unknown
Disease associations (Open Targets)
global developmental delay with or without impaired intellectual development
0.74cancer
0.59myelodysplastic syndrome
0.54hereditary disease
0.52acute lymphoblastic leukemia
0.51leukemia
0.47breast carcinoma
0.46atrial fibrillation
0.46neurodevelopmental disorder
0.45chronic myelogenous leukemia, BCR-ABL1 positive
0.44
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Homeobox protein cut-like 1
Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator
Diseases associated with CUX1
Curated MONDO disease pages that list CUX1 among their top associated genes.