DNAH9 - dynein axonemal heavy chain 9 Gene
Also Known as DYH9; HL20; DNEL1; HL-20; CILD40; Dnahc9; DNAH17L
Species: Homo sapiens
About DNAH9
This gene has 15 transcripts (splice variants), 151 orthologues, 15 paralogues and is associated with 5 phenotypes. Biased expression in testis (RPKM 1.3), lung (RPKM 1.0) and 6 other tissues.
Summary
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]
DNAH9 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001372.4 | NP_001363.2 | dynein axonemal heavy chain 9 isoform 2 |
| NM_004662.2 | NP_004653.2 | dynein axonemal heavy chain 9 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
30471718 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cilium movement |
IMP
IMP: Inferred from mutant phenotype
|
30471717 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in 9+2 motile cilium |
IDA
IDA: Inferred from direct assay
|
26909801 | GOA |
| located in axoneme |
IDA
IDA: Inferred from direct assay
|
11104725 | GOA |
| located in distal portion of axoneme |
IDA
IDA: Inferred from direct assay
|
26909801 | GOA |
| located in motile cilium |
IDA
IDA: Inferred from direct assay
|
31178125 | GOA |
DNAH9 Protein Structure
DHC_N1: Dynein heavy chain, N-terminal region 1 (210 - 790)
DHC_N2: Dynein heavy chain, N-terminal region 2 (1290 - 1703)
AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1832 - 2062)
AAA_5: AAA domain (dynein-related subfamily) (2147 - 2267)
AAA_7: P-loop containing dynein motor region D3 (2439 - 2710)
AAA_8: P-loop containing dynein motor region D4 (2788 - 3055)
MT: Microtubule-binding stalk of dynein motor (3067 - 3410)
AAA_9: ATP-binding dynein motor region D5 (3428 - 3655)
Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3785 - 4485)
- 0
- 700
- 1400
- 2100
- 2800
- 3500
- 4200
- 4486 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynein axonemal heavy chain 9 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ciliary Dyskinesia, Primary, 40 |
|
|
| Dextrocardia With Situs Inversus |
|
|
| Hydrops Fetalis, Nonimmune |
|
|
| Visceral Heterotaxy |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Hydrocephalus |
|
|
| Situs Inversus |
|
|
| Osteogenesis Imperfecta, Type Xiii |
|
|
| Osteogenesis Imperfecta, Type Xi |
|
|
| Kartagener Syndrome |
|
|
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
|
| Ciliary Dyskinesia, Primary, 25 |
|
|
| Ciliary Dyskinesia, Primary, 2 |
|
|
| Osteogenesis Imperfecta, Type Xii |
|
|
| Right Atrial Isomerism |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | DNAH9 | VGNC | VGNC:40019 |
| Macaca mulatta | DNAH9 | VGNC | VGNC:99143 |
| Mus musculus | DNAH9 | MGD | MGI:1289279 |
| Bos taurus | DNAH9 | VGNC | VGNC:28128 |
| Rattus norvegicus | DNAH9 | RGD | RGD:621799 |
| Others | DNAH9 | NCBI |