AlphaFold predicted structure
DVL1 · O14640
Mean pLDDT
59.8/ 100
Low
695 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)20%
- Low(50–70)7%
- Very low(< 50)56%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DVL1
Chr 1p36.33dishevelled segment polarity protein 1
- MANE:
- ENST00000378888.10
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMonogenic hearing loss
Disease associations (Open Targets)
autosomal dominant Robinow syndrome
0.73Robinow syndrome
0.72hereditary disease
0.45ciliary dyskinesia, primary, 40
0.12neoplasm
0.10breast carcinoma
0.10hepatocellular carcinoma
0.09breast cancer
0.09cancer
0.09non-small cell lung carcinoma
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Segment polarity protein dishevelled homolog DVL-1
Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ)