HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DNAL1
dynein axonemal light chain 1
Chromosome 14 Β· 14q24.3
NCBI Gene: 83544Ensembl: ENSG00000119661.16HGNC: HGNC:23247UniProt: Q4LDG9
16PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
outer dynein arm assemblyalpha-tubulin bindingdynein heavy chain bindingprotein bindingprimary ciliary dyskinesiabronchiectasisgenetic disorderAbnormality of the skeletal system
✦AI Summary

DNAL1 encodes dynein axonemal light chain 1, a critical component of outer dynein arm (ODA) complexes in motile cilia and flagella 1. The protein functions as part of multisubunit axonemal ATPase complexes that generate force for ciliary motility and regulate beat frequency 1. DNAL1 specifically binds to dynein heavy chain DNAH5 and may serve in a mechanosensory feedback mechanism controlling ODA activity by tethering the outer arm dynein heavy chain to microtubules within the axoneme 1. The protein is essential for normal ciliary function in airways and for cilia-mediated nodal flow required for left-right body asymmetry determination 1. DNAL1 is expressed specifically in testis, embryonic node, respiratory epithelium, and ependyma 1. Disease-wise, DNAL1 mutations cause primary ciliary dyskinesia with respiratory symptoms and male infertility 23. The protein also plays roles in sperm flagellar assembly, where its deficiency disrupts inner dynein arms and fibrous sheath formation, leading to severe asthenozoospermia 4. Additionally, DNAL1 expression is reduced upon diesel exhaust particle exposure, contributing to ciliary dysfunction 5.

Sources cited
1
DNAL1 is component of outer dynein arms, binds DNAH5, and is expressed in testis, respiratory epithelium, and embryonic node
PMID: 15845866
2
DNAL1 mutations identified in Russian PCD patients cause ciliary dysfunction
PMID: 39180133
3
DNAL1 mutations cause primary ciliary dyskinesia with respiratory manifestations in sibling cohort
PMID: 39282880
4
DNALI1 deficiency causes male infertility by disrupting flagellar assembly and sperm motility
PMID: 36792588
5
DNAL1 expression is reduced by diesel exhaust particles, contributing to ciliary dysfunction
PMID: 38364346
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.74Strong
bronchiectasisOpen Targets
0.37Weak
genetic disorderOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.18Weak
intracranial hemorrhageOpen Targets
0.11Weak
cervical carcinomaOpen Targets
0.10Suggestive
hereditary angioedemaOpen Targets
0.06Suggestive
Milroy diseaseOpen Targets
0.06Suggestive
lymphatic malformation 11Open Targets
0.06Suggestive
LipedemaOpen Targets
0.05Suggestive
lymphatic malformation 14Open Targets
0.05Suggestive
hereditary angioedema with normal C1InhOpen Targets
0.04Suggestive
lymphatic malformation 8Open Targets
0.04Suggestive
lymphatic malformation 3Open Targets
0.04Suggestive
lymphatic malformation 10Open Targets
0.03Suggestive
lymphatic malformation 9Open Targets
0.03Suggestive
Kaposi sarcoma, susceptibility toOpen Targets
0.03Suggestive
Kaposi's sarcomaOpen Targets
0.03Suggestive
polycystic kidney disease 5Open Targets
0.03Suggestive
lymphatic malformation 7Open Targets
0.03Suggestive
Ciliary dyskinesia, primary, 16UniProt
Pathogenic Variants11
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 16
β˜…β˜…β˜†β˜†2023β†’ Residue 74
NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter)Pathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2026β†’ Residue 162
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)Pathogenic
Primary ciliary dyskinesia 16|Kartagener syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 150
NM_031427.4(DNAL1):c.527T>C (p.Leu176Pro)Likely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 176
NM_031427.4(DNAL1):c.151G>T (p.Glu51Ter)Likely pathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2024β†’ Residue 51
NM_031427.4(DNAL1):c.490G>T (p.Glu164Ter)Likely pathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2024β†’ Residue 164
NM_031427.4(DNAL1):c.438_439dup (p.Phe147fs)Likely pathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2024β†’ Residue 147
NM_031427.4(DNAL1):c.23_24del (p.Lys8fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 8
NM_031427.4(DNAL1):c.384del (p.Asp129fs)Pathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2023β†’ Residue 129
NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter)Pathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2023β†’ Residue 99
NC_000014.9:g.(?_73671522)_(73671617_?)delPathogenic
Primary ciliary dyskinesia 16
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
DNAAF8Shared pathway100%FTCDProtein interaction98%CFAP70Protein interaction92%MAP1LC3AProtein interaction91%SEPSECSProtein interaction87%MAP1BProtein interaction87%
Tissue Expression6 tissues
Brain
100%
Heart
43%
Ovary
28%
Bone Marrow
25%
Lung
18%
Liver
14%
Gene Interaction Network
Click a node to explore
DNAL1DNAAF8FTCDCFAP70MAP1LC3ASEPSECSMAP1B
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.47LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.62–1.47]
RankingsWhere DNAL1 stands among ~20K protein-coding genes
  • #15,249of 20,598
    Most Researched16
  • #2,809of 5,498
    Most Pathogenic Variants11
  • #14,988of 17,882
    Most Constrained (LOEUF)1.47
Genes detectedDNAL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly.
PMID: 38454159
EMBO Rep Β· 2024
1.00
2
Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication.
PMID: 22018492
Virology Β· 2012
0.90
3
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.
PMID: 15845866
Am J Respir Cell Mol Biol Β· 2005
0.80
4
Diesel exhaust particle exposure exacerbates ciliary and epithelial barrier dysfunction in the multiciliated bronchial epithelium models.
PMID: 38364346
Ecotoxicol Environ Saf Β· 2024
0.70
5
Unveiling the therapeutic potential: KBU2046 halts triple-negative breast cancer cell migration by constricting TGF-Ξ²1 activation
PMID: 39449805
Oncol Res Β· 2024
0.60