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.
DNALI1
dynein axonemal light intermediate chain 1
Chromosome 1 Β· 1p34.3
NCBI Gene: 7802Ensembl: ENSG00000163879.11HGNC: HGNC:14353UniProt: A0A499FIY3
34PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsperm flagellumsperm midpiecesperm principal piecenon-syndromic male infertility due to sperm motility disorderspermatogenic failure 83open-angle glaucomalower respiratory tract disease
✦AI Summary

DNALI1 (dynein axonemal light intermediate chain 1) is essential for sperm flagellum assembly and male fertility. The protein functions as a light intermediate chain component of inner dynein arms (IDAs) in the axoneme structure of sperm flagella 1. DNALI1 specifically associates with DNAH1 and DNAH7 dynein heavy chains rather than DNAH10, defining it as a component of a partial IDA subspecies 1. Beyond its classical dynein role, DNALI1 regulates cytoplasmic dynein complexes that transport and assemble fibrous sheath proteins, particularly AKAP3 and AKAP4, during flagellogenesis 1. DNALI1 also interacts with DNAH12 for proper IDA recruitment and axoneme organization 2. Loss-of-function mutations in DNALI1 cause severe asthenozoospermia and male infertility in both humans and mice, characterized by disrupted flagellar ultrastructure, asymmetric fibrous sheath distribution, and impaired sperm motility 134. The protein is specifically required for sperm function rather than ciliary motility 2. Clinically, DNALI1 deficiency represents a causative factor for spermatogenic failure, but affected individuals can achieve fertility through intracytoplasmic sperm injection (ICSI) 134.

Sources cited
1
DNALI1 is a light intermediate chain of partial IDA subspecies, regulates fibrous sheath assembly, and causes asthenozoospermia when deficient
PMID: 36792588
2
DNALI1 interacts with DNAH12 for proper IDA recruitment and is specific to sperm rather than cilia
PMID: 40146200
3
DNALI1 deficiency causes sperm motility defects and male infertility in mice, treatable by ICSI
PMID: 37993789
4
Homozygous DNALI1 mutations cause asthenoteratozoospermia with flagellar defects in humans, treatable by ICSI
PMID: 36726469
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
spermatogenic failure 83Open Targets
0.35Weak
open-angle glaucomaOpen Targets
0.24Weak
lower respiratory tract diseaseOpen Targets
0.17Weak
heart diseaseOpen Targets
0.16Weak
asthmaOpen Targets
0.14Weak
azoospermiaOpen Targets
0.10Suggestive
ovarian carcinomaOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.09Suggestive
glaucomaOpen Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 56Open Targets
0.06Suggestive
spermatogenic failure 94Open Targets
0.06Suggestive
Spermatogenic failure 83UniProt
Pathogenic Variants1
NM_003462.5(DNALI1):c.666_669del (p.Ser222fs)Pathogenic
Spermatogenic failure 83
β˜†β˜†β˜†β˜†2024β†’ Residue 222
View on ClinVar β†—
Related Genes
RSPH9Protein interaction100%RSPH1Protein interaction99%DNAI1Protein interaction97%DNAI2Protein interaction96%DNAAF1Protein interaction94%DNAH11Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Ovary
88%
Liver
63%
Lung
27%
Heart
21%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DNALI1RSPH9RSPH1DNAI1DNAI2DNAAF1DNAH11
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.67–1.20]
RankingsWhere DNALI1 stands among ~20K protein-coding genes
  • #11,143of 20,598
    Most Researched34
  • #5,224of 5,498
    Most Pathogenic Variants1
  • #12,628of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedDNALI1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath.
PMID: 36792588
Cell Death Dis Β· 2023
1.00
2
Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.
PMID: 40146200
Elife Β· 2025
0.90
3
Dnali1 is required for sperm motility and male fertility in mice.
PMID: 37993789
Basic Clin Androl Β· 2023
0.80
4
DNALI1 is a prognosis-related biomarker and correlates with immune infiltrates in low grade glioma.
PMID: 37955080
Cancer Biomark Β· 2023
0.70
5
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
PMID: 37314648
Front Med Β· 2023
0.60