DNHD1: Dynein Heavy Chain Domain 1
A gene encoding a dynein heavy chain domain-containing protein implicated in ciliary function and spermatogenesis.
Gene Information Card
| Symbol | DNHD1 |
|---|---|
| Full Name | Dynein Heavy Chain Domain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 144132 ncbi.nlm.nih.gov/gene/144132 |
| Ensembl ID | ENSG00000196352 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 617083 |
| HGNC ID | 26169 |
| Aliases | FLJ23588, MGC35130, dynein heavy chain domain 1 |
Description
DNHD1 (dynein heavy chain domain 1) is a protein-coding gene located on chromosome 11p15.4. It encodes a protein containing a dynein heavy chain domain, which is typically involved in microtubule-based motor activity. DNHD1 is expressed in tissues with motile cilia, including the respiratory tract and testis, and is essential for ciliary beat frequency and sperm flagellar function. Mutations in DNHD1 are associated with primary ciliary dyskinesia and male infertility due to defective axonemal dynein arms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations in DNHD1 disrupt dynein arm assembly in cilia, impairing mucociliary clearance. | ClinVar, OMIM #617083 |
| Male infertility (asthenozoospermia) | DNHD1 deficiency causes sperm flagellar dysmotility due to defective dynein heavy chain function. | UniProt, NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.9 | Low |
| Brain (cerebellum) | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Calu-3 (lung) | 5.2 | Airway epithelial cell line |
| HepG2 (liver) | 1.8 | Low expression |
| K-562 (bone marrow) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncates protein |
| c.2567_2568del (p.Gln856fs) | Frameshift | Rare | Loss of function; premature stop |
| c.3456G>A (p.Trp1152*) | Nonsense | Rare | Loss of function; associated with PCD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DNHD1 lead to truncated or absent protein, causing ciliary dyskinesia and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for DNHD1.
Dominant Negative (DN)
No dominant-negative mutations reported for DNHD1.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • axonemal dynein complex (GO:0005858) | • cilium (GO:0005929) |
| • outer dynein arm (GO:0036157) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Axonemal dynein assembly (Reactome: R-HSA-5620916)
Protein Summary
The DNHD1 protein (UniProt Q5T8P6) is a 4,312-amino-acid polypeptide containing a dynein heavy chain domain. It localizes to the axonemal outer dynein arm of motile cilia and flagella, where it generates force for microtubule sliding. The protein is critical for ciliary beat frequency and sperm motility. Structural predictions indicate a coiled-coil region and ATP-binding site typical of dynein heavy chains.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNHD1 Knockout HEK293 Cell Line | EDJ-KQ10406 | Human | 144132 | Details Get a Quote |
| DNHD1 Knockout A-549 Cell Line | EDJ-KQ37756 | Human | 144132 | Details Get a Quote |
| DNHD1 Knockout HCT 116 Cell Line | EDJ-KQ37757 | Human | 144132 | Details Get a Quote |
| DNHD1 Knockout HeLa Cell Line | EDJ-KQ37758 | Human | 144132 | Details Get a Quote |
