DNAH9 Gene Summary [Human]
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DNAH9 |
| Official Name | dynein axonemal heavy chain 9 [Source:HGNC Symbol;Acc:HGNC:2953] |
| Ensembl ID | ENSG00000007174 |
| Bio databases IDs | |
| Aliases | dynein axonemal heavy chain 9 |
| Synonyms | 9030022M04, A230091C01, C230051G16, CILD40, D11Ertd686e, DNAH17L, Dnahc9, DNEL1, DYH9, dynein axonemal heavy chain 9, dynein, axonemal, heavy chain 9, HL-20, LOC100363013, LOC363711, LOC691910, LOC691911, mKIAA0357 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DNAH9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Dynein heavy chain C-terminal domain
- ATP-binding dynein motor region
- Microtubule-binding stalk of dynein motor
- protein binding
- AAA+ lid domain
- Dynein heavy chain, N-terminal region 1
- P-loop containing dynein motor region
- Dynein heavy chain, N-terminal region 2
- P-loop containing dynein motor region D4
- Dynein heavy chain AAA lid domain
- AAA domain (dynein-related subfamily)
- Dynein heavy chain region D6 P-loop domain
- Hydrolytic ATP binding site of dynein motor region
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypospadia
- primary ciliary dyskinesia type 40 with situs inversus
- tinnitus
- hydrocephalus
- BCR-ABL negative atypical chronic myeloid leukemia
- primary ciliary dyskinesia
- pathologic myopia
- idiopathic hydrops fetalis
- congenital heart disease
regulates
- mucin
- ODAD1
role in cell
- movement
- cellular infiltration by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- motile cilia
- axonemes
- nuclear scaffolds
- glial cell projections
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAH9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium movement involved in cell motility
- cell projection organization
- establishment of localization in cell
- cilium movement
Cellular Component
Where in the cell the gene product is active
- motile cilium
- outer dynein arm
- dynein complex
- extracellular region
- axoneme
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- dynein light intermediate chain binding
- minus-end-directed microtubule motor activity
- dynein intermediate chain binding