DNAH1 Gene - Dynein Axonemal Heavy Chain 1
Essential for Ciliary and Flagellar Motility; Associated with Primary Ciliary Dyskinesia and Spermatogenic Failure
Gene Information Card
| Symbol | DNAH1 |
|---|---|
| Full Name | Dynein Axonemal Heavy Chain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 25981 ncbi.nlm.nih.gov/gene/25981 |
| Ensembl ID | ENSG00000114859 |
| UniProt ID | Q9P2D7 |
| OMIM ID | 603332 |
| HGNC ID | 2945 |
| Aliases | DNAHC1, DNAL1, HDHC7, KIAA1427 |
Description
DNAH1 encodes the axonemal dynein heavy chain 1, a component of the inner dynein arm of cilia and flagella. This protein is essential for microtubule-based motility in respiratory cilia and sperm flagella. Mutations in DNAH1 cause primary ciliary dyskinesia (PCD) with situs inversus and male infertility due to asthenozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 7 (CILD7) | Loss-of-function mutations disrupt inner dynein arm assembly, impairing ciliary beat frequency and mucociliary clearance. | ClinVar, OMIM #611884 |
| Spermatogenic Failure 18 (SPGF18) | Biallelic mutations cause sperm flagellar defects (short, absent, or immotile flagella) leading to asthenozoospermia. | OMIM #618112 |
| Ciliary Dyskinesia with Situs Inversus (Kartagener Syndrome) | Defective ciliary motility during embryogenesis disrupts left-right asymmetry, resulting in situs inversus. | ClinVar, OMIM #244400 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Lung | 8.2 | Medium |
| Trachea | 6.1 | Medium |
| Fallopian Tube | 4.3 | Low |
| Brain (Cerebellum) | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 12.4 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 9.8 | Bronchial epithelial cells |
| A549 | 3.2 | Lung carcinoma cell line |
| HeLa | 1.1 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.10825C>T (p.Arg3609*) | Nonsense | <0.01% | Premature stop; loss of motor domain function |
| c.4348C>T (p.Arg1450Trp) | Missense | 0.02% | Disrupts ATP-binding site; reduced dynein activity |
| c.1174+1G>A | Splice donor | <0.01% | Exon skipping; frameshift and protein truncation |
| c.8320_8321del (p.Leu2774Valfs*2) | Frameshift deletion | 0.01% | Loss of C-terminal domain; impaired microtubule binding |
Mutation functional classification
Loss of Function (LOF)
Most DNAH1 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or absent protein, causing PCD and spermatogenic failure.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAH1.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT: R-HSA-5620920 - Cargo trafficking in the axoneme
• REACT: R-HSA-5617833 - Cilium assembly
• REACT: R-HSA-1852241 - Organelle biogenesis and maintenance
Protein Summary
DNAH1 is a 4,644-amino-acid protein (UniProt Q9P2D7) belonging to the dynein heavy chain family. It contains an N-terminal microtubule-binding domain, a central AAA+ ATPase motor domain, and a C-terminal stalk. The protein localizes to the inner dynein arm of ciliary and flagellar axonemes. Defects in DNAH1 impair ciliary beat frequency and sperm flagellar motility, leading to primary ciliary dyskinesia and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAH12 Knockout HEK293 Cell Line | EDJ-KQ4945 | Human | 201625 | Details Get a Quote |
| DNAH17 Knockout HEK293 Cell Line | EDJ-KQ6307 | Human | 8632 | Details Get a Quote |
| DNAH11 Knockout HEK293 Cell Line | EDJ-KQ6328 | Human | 8701 | Details Get a Quote |
| DNAH1 Knockout HEK293 Cell Line | EDJ-KQ7661 | Human | 25981 | Details Get a Quote |
| DNAH14 Knockout HEK293 Cell Line | EDJ-KQ9065 | Human | 127602 | Details Get a Quote |
| DNAH10 Knockout HEK293 Cell Line | EDJ-KQ13173 | Human | 196385 | Details Get a Quote |
| DNAH17 Knockout A-549 Cell Line | EDJ-KQ30216 | Human | 8632 | Details Get a Quote |
| DNAH10 Knockout HCT 116 Cell Line | EDJ-KQ41292 | Human | 196385 | Details Get a Quote |
| DNAH17 Knockout HCT 116 Cell Line | EDJ-KQ30217 | Human | 8632 | Details Get a Quote |
| DNAH17 Knockout HeLa Cell Line | EDJ-KQ30218 | Human | 8632 | Details Get a Quote |
| DNAH11 Knockout HCT 116 Cell Line | EDJ-KQ30264 | Human | 8701 | Details Get a Quote |
| DNAH14 Knockout A-549 Cell Line | EDJ-KQ34279 | Human | 127602 | Details Get a Quote |
| DNAH1 Knockout HCT 116 Cell Line | EDJ-KQ34349 | Human | 25981 | Details Get a Quote |
| DNAH14 Knockout HCT 116 Cell Line | EDJ-KQ35535 | Human | 127602 | Details Get a Quote |
| DNAH14 Knockout HeLa Cell Line | EDJ-KQ35536 | Human | 127602 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
