DNAH5 Gene Summary [Human]
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | DNAH5 |
| Official Name | dynein axonemal heavy chain 5 [Source:HGNC Symbol;Acc:HGNC:2950] |
| Ensembl ID | ENSG00000039139 |
| Bio databases IDs | |
| Aliases | dynein axonemal heavy chain 5, dynein heavy chain 5 |
| Synonyms | AU022615, b2b1134Clo, b2b1154Clo, b2b1537Clo, b2b1565Clo, b2b3491Clo, b2b601Clo, CILD3, DLP5, DNAHC5, Dnahc8, dynein axonemal heavy chain 5, dynein, axonemal, heavy chain 5, HL1, KTGNR, Mdnah5, mKIAA1603, PCD |
| 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 DNAH5 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
- F-type ATP synthase, membrane subunit b
- Microtubule-binding stalk of dynein motor
- enzyme
- protein binding
- AAA+ lid domain
- microtubule motor protein
- 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
- nasopharyngeal cancer
- primary ciliary dyskinesia 3
- primary ciliary dyskinesia
- nasopharyngeal carcinoma
- epithelial cancer
- infertility condition
- hereditary disorder
- seasonal allergic rhinitis
- sarcomatoid cancer
- chronic obstructive pulmonary disease
regulates
- Axonemal Dynein Outer Arm
- DNAH6
role in cell
- movement
- assembly
- motility
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
- glial cell projections
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAH5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- lateral ventricle development
- outer dynein arm assembly
- sperm motility
- cilium morphogenesis
- cilium movement involved in cell motility
- epithelial cilium movement
- cilium movement
- establishment of localization in cell
- determination of left/right symmetry
Cellular Component
Where in the cell the gene product is active
- motile cilium
- outer dynein arm
- cytoplasm
- extracellular region
- axoneme
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- dynein light intermediate chain binding
- minus-end-directed microtubule motor activity
- dynein intermediate chain binding