AlphaFold predicted structure
CDH1 · P12830
Mean pLDDT
79.2/ 100
Confident
882 residues
Confidence breakdown
- Very high(≥ 90)47%
- Confident(70–90)29%
- Low(50–70)8%
- Very low(< 50)16%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CDH1
Chr 16q22.1cadherin 1
- Aliases:
- uvomorulin, CD324
- MANE:
- ENST00000261769.10
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial breast cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary diffuse gastric cancer
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownBreast cancer pertinent cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
+2 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
CDH1-related diffuse gastric and lobular breast cancer syndrome
0.83blepharocheilodontic syndrome 1
0.76Familial gastric cancer
0.69ovarian cancer
0.68endometrial carcinoma
0.68Hereditary breast cancer
0.62breast adenocarcinoma
0.61gastric cancer
0.61gastric adenocarcinoma
0.59Inherited cancer-predisposing syndrome
0.58
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Fizzy-related protein homolog
Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192)
Diseases associated with CDH1
Curated MONDO disease pages that list CDH1 among their top associated genes.