DNAL1

Chr 14q24.3

dynein axonemal light chain 1

Aliases:: MGC12435, 1700010H15RiK, CILD16
MANE:: ENST00000553645.7

OMIM: 610062 ↗NCBI: 83544 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DNAL1 · Q4LDG9

v62025-08-01

Predicted Aligned Error matrix for DNAL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.8/ 100

Very high

190 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)2%
Low(50–70)2%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary ciliary disorders
BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis
Non-CF bronchiectasis
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

primary ciliary dyskinesia
0.74
bronchiectasis
0.37
hereditary disease
0.19
Abnormality of the skeletal system
0.18
cervical carcinoma
0.14
intracranial hemorrhage
0.14
nephronophthisis
0.05
familial adenomatous polyposis 4
0.04
systemic lupus erythematosus
0.04
polycystic kidney disease 4
0.04

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

Protein function (UniProt)

Dynein axonemal light chain 1

Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787)