DNAH1 Gene Summary [Human]
This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
Details
| Type | Retained Intron |
| Official Symbol | DNAH1 |
| Official Name | dynein axonemal heavy chain 1 [Source:HGNC Symbol;Acc:HGNC:2940] |
| Ensembl ID | ENSG00000114841 |
| Bio databases IDs | |
| Aliases | dynein axonemal heavy chain 1 |
| Synonyms | B230373P09RIK, CILD37, DNAHC1, dynein axonemal heavy chain 1, dynein, axonemal, heavy chain 1, E030034C22Rik, ferf1, G1-415-19, HDHC7, HL-11, HSRF-1, MDHC7, RGD1311110, SPGF18, XLHSRF-1 |
| 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 DNAH1 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
Pathways
Biological processes and signaling networks where the DNAH1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- spermatogenic failure 18
- primary ciliary dyskinesia type 37
- spermatogenic failure 7
- asthenozoospermia
- schizophrenia
- primary ciliary dyskinesia
regulated by
- diethylnitrosamine
- metribolone
- phenobarbital
- REL
regulates
- Axonemal Dynein Inner Arm
role in cell
- motility
- movement
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
- axonemes
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNAH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sperm motility
- ciliary cell motility
- epithelial cilium movement
- sperm axoneme assembly
- inner dynein arm assembly
Cellular Component
Where in the cell the gene product is active
- inner dynein arm
- axonemal dynein complex
- sperm flagellum
- extracellular region
- axoneme
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATP binding
- microtubule motor activity
- dynein light intermediate chain binding
- dynein intermediate chain binding
- minus-end-directed microtubule motor activity