DNAH17 Gene Summary [Human]
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DNAH17 |
| Official Name | dynein axonemal heavy chain 17 [Source:HGNC Symbol;Acc:HGNC:2946] |
| Ensembl ID | ENSG00000187775 |
| Bio databases IDs | |
| Aliases | dynein axonemal heavy chain 17 |
| Synonyms | 2810003K23Rik, Dnahc11, Dnahc17, Dnahcl1, DNAHL1, DNEL2, dynein axonemal heavy chain 17, dynein, axonemal, heavy chain 17, Gm1178, mKIAA3028, SPGF39 |
| 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 DNAH17 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
- spermatogenic failure 39
- acute myeloid leukemia
- COVID-19
- idiopathic dilated cardiomyopathy
- Parkinson disease
- pulmonary embolism
regulates
- Axonemal Dynein Outer Arm
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
- axonemes
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAH17 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- outer dynein arm assembly
- cilium movement involved in cell motility
- ciliary cell motility
Cellular Component
Where in the cell the gene product is active
- outer dynein arm
- axonemal dynein complex
- dynein complex
- sperm flagellum
- axoneme
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATP binding
- microtubule motor activity
- dynein light intermediate chain binding
- minus-end-directed microtubule motor activity
- dynein intermediate chain binding