DNAH6 Gene Summary [Human]
This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]
Details
| Type | Retained Intron |
| Official Symbol | DNAH6 |
| Official Name | dynein axonemal heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:2951] |
| Ensembl ID | ENSG00000115423 |
| Bio databases IDs | |
| Aliases | dynein axonemal heavy chain 6 |
| Synonyms | 9830168K20, A730004I20Rik, axo a, DNAHC6, DNHL1, dynein axonemal heavy chain 6, dynein, axonemal, heavy chain 6, FLJ37357, HL-2, LOC103690732, LOC200383, mdhc6, mKIAA1697 |
| 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 DNAH6 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, 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 C-terminal domain
- ATP-binding dynein motor region
- Dynein heavy chain region D6 P-loop domain
- Hydrolytic ATP binding site of dynein motor region
- Microtubule-binding stalk of dynein motor
- AAA+ lid domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- P-loop containing dynein motor region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- idiopathic scoliosis
- primary ciliary dyskinesia type 45
- mixed sarcomatoid-epithelial nasopharyngeal carcinoma
- mixed neoplasia
- sarcomatoid cancer
- nasopharyngeal cancer
- hypospadia
- late-onset Alzheimer disease
- focal segmental glomerulosclerosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAH6 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
Cellular Component
Where in the cell the gene product is active
- dynein complex
- 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