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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DNAI1
dynein axonemal intermediate chain 1
Chromosome 9 Β· 9p13.3
NCBI Gene: 27019Ensembl: ENSG00000122735.16HGNC: HGNC:2954UniProt: A0A087WWV9
38PubMed Papers
22Diseases
0Drugs
168Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
outer dynein armflagellated sperm motilitycilium movementprotein bindingprimary ciliary dyskinesiaKartagener Syndromeciliopathybronchiectasis
✦AI Summary

DNAI1 encodes dynein axonemal intermediate chain 1, a critical structural component of the outer dynein arm (ODA) complex in motile cilia 1. This protein is essential for normal ciliary beat frequency and mucociliary clearance in the respiratory tract 12. Loss-of-function mutations in DNAI1 cause primary ciliary dyskinesia (PCD), accounting for up to 10% of all PCD cases 1. Patients with DNAI1 mutations present with chr9 respiratory symptoms including wet cough, recurrent sinusitis, and bronchiectasis, with functional abnormalities manifesting at or near birth 13. DNAI1 mutations can result in both PCD with normal organ positioning (situs solitus) and Kartagener syndrome, which includes situs inversus totalis, demonstrating the gene's role in left-right body axis determination 4. Immunofluorescence studies show that mutant DNAI1 protein mislocalizes and fails to incorporate properly into ciliary axonemes 5. Recent therapeutic approaches using lipid nanoparticle-delivered DNAI1 mRNA have shown promise in rescuing ciliary function in preclinical models, offering potential disease-modifying treatment for affected patients 12.

Sources cited
1
DNAI1 is a key ODA structural element accounting for up to 10% of PCD cases
PMID: 40294271
2
DNAI1 mRNA therapy can rescue ciliary beat frequency in knockout models
PMID: 40963409
3
Clinical spectrum of DNAI1 mutations in pediatric PCD patients
PMID: 33577779
4
DNAI1 protein mislocalization patterns in bronchiectasis patients
PMID: 36435264
5
DNAI1 mutations cause both PCD and Kartagener syndrome with situs inversus
PMID: 11231901
Disease Associationsβ“˜22
primary ciliary dyskinesiaOpen Targets
0.75Strong
Kartagener SyndromeOpen Targets
0.70Strong
ciliopathyOpen Targets
0.64Moderate
bronchiectasisOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
infertilityOpen Targets
0.12Weak
male infertilityOpen Targets
0.11Weak
HeterotaxiaOpen Targets
0.08Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.06Suggestive
ciliary dyskinesia, primary, 40Open Targets
0.06Suggestive
heterotaxy, visceral, 9, autosomal, with male infertilityOpen Targets
0.06Suggestive
visceral heterotaxyOpen Targets
0.05Suggestive
allergic rhinitisOpen Targets
0.05Suggestive
Ivemark syndromeOpen Targets
0.05Suggestive
right atrial isomerismOpen Targets
0.05Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.05Suggestive
ciliary dyskinesia, primary, 53Open Targets
0.05Suggestive
scimitar syndromeOpen Targets
0.05Suggestive
hydrocephalus, congenital communicating, 1Open Targets
0.05Suggestive
ciliary dyskinesia, primary, 49, without situs inversusOpen Targets
0.05Suggestive
Ciliary dyskinesia, primary, 1UniProt
Kartagener syndromeUniProt
Pathogenic Variants168
NM_012144.4(DNAI1):c.1019+5G>CPathogenic
Primary ciliary dyskinesia|DNAI1-related disorder|Kartagener syndrome
β˜…β˜…β˜†β˜†2026
NM_012144.4(DNAI1):c.48+2dupPathogenic
Kartagener syndrome|Primary ciliary dyskinesia|not provided|Inborn genetic diseases|DNAI1-related disorder
β˜…β˜…β˜†β˜†2026
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)Pathogenic
Kartagener syndrome|Primary ciliary dyskinesia|DNAI1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 497
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)Pathogenic
Primary ciliary dyskinesia|not provided|DNAI1-related disorder|Kartagener syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 60
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)Pathogenic
Primary ciliary dyskinesia|See cases|Kartagener syndrome|Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜…β˜†β˜†2026β†’ Residue 538
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)Pathogenic
Primary ciliary dyskinesia|not provided|Kartagener syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 509
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)Pathogenic
Kartagener syndrome|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 188
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)Pathogenic
Kartagener syndrome|Primary ciliary dyskinesia|DNAI1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 515
NM_012144.4(DNAI1):c.155del (p.Pro52fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 52
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 404
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 296
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 91
NM_012144.4(DNAI1):c.1490-2A>GLikely pathogenic
Primary ciliary dyskinesia|not provided|Kartagener syndrome
β˜…β˜…β˜†β˜†2025
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 450
NM_012144.4(DNAI1):c.180+1G>APathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025
NM_012144.4(DNAI1):c.1818+1G>TPathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 548
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 562
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)Pathogenic
Primary ciliary dyskinesia|Kartagener syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 547
View on ClinVar β†—
Related Genes
RSPH1Protein interaction99%DNAH8Protein interaction98%DNAH9Protein interaction98%DNAH17Protein interaction98%DNAH1Protein interaction98%NME8Protein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
58%
Brain
45%
Ovary
19%
Heart
17%
Liver
12%
Gene Interaction Network
Click a node to explore
DNAI1RSPH1DNAH8DNAH9DNAH17DNAH1NME8
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.57–0.85]
RankingsWhere DNAI1 stands among ~20K protein-coding genes
  • #10,460of 20,598
    Most Researched38
  • #444of 5,498
    Most Pathogenic Variants168 Β· top 10%
  • #7,439of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedDNAI1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
PMID: 33577779
Chest Β· 2021
1.00
2
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
PMID: 16627867
Am J Respir Crit Care Med Β· 2006
0.90
3
Human Genetics of Defects of Situs.
PMID: 38884744
Adv Exp Med Biol Β· 2024
0.80
4
Inhaled
PMID: 40294271
Proc Natl Acad Sci U S A Β· 2025
0.70
5
Motile Ciliary Disorders of the Nasal Epithelium in Adults With Bronchiectasis.
PMID: 36435264
Chest Β· 2023
0.60