AlphaFold predicted structure
DNAAF1 · Q8NEP3
Mean pLDDT
60.3/ 100
Low
725 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)3%
- Low(50–70)7%
- Very low(< 50)56%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DNAAF1
Chr 16q24.1dynein axonemal assembly factor 1
- Aliases:
- FLJ25330, ODA7, CILD13, swt, DAU1
- MANE:
- ENST00000378553.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalLaterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomalPrimary ciliary disorders
BIALLELIC, autosomal or pseudoautosomalRespiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomalDuctal plate malformation
BIALLELIC, autosomal or pseudoautosomalFamilial pulmonary fibrosis
Non-CF bronchiectasis
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
primary ciliary dyskinesia
0.77bronchiectasis
0.37Heterotaxy
0.33uveitis
0.24Brugada syndrome
0.08familial long QT syndrome
0.08Romano-Ward syndrome
0.08familial atrial fibrillation
0.07Familial progressive cardiac conduction defect
0.06Wolff-Parkinson-White syndrome
0.06
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dynein axonemal assembly factor 1
Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli
Diseases associated with DNAAF1
Curated MONDO disease pages that list DNAAF1 among their top associated genes.