DNAH6 - dynein axonemal heavy chain 6 Gene
Also Known as HL2; HL-2; DNHL1; Dnahc6
Species: Homo sapiens
About DNAH6
This gene has 5 transcripts (splice variants), 220 orthologues and 15 paralogues. Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues.
Summary
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]
DNAH6 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001370.2 | NP_001361.1 | dynein axonemal heavy chain 6 |
DNAH6 Protein Structure
DHC_N2: Dynein heavy chain, N-terminal region 2 (878 - 1304)
AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1434 - 1664)
AAA_5: AAA domain (dynein-related subfamily) (1748 - 1892)
AAA_7: P-loop containing dynein motor region D3 (2057 - 2328)
AAA_8: P-loop containing dynein motor region D4 (2417 - 2678)
MT: Microtubule-binding stalk of dynein motor (2690 - 3019)
AAA_9: ATP-binding dynein motor region D5 (3042 - 3270)
Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3407 - 4155)
- 0
- 700
- 1400
- 2100
- 2800
- 3500
- 4158 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynein axonemal heavy chain 6 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Primary Ciliary Dyskinesia |
|
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| Spermatogenic Failure 9 |
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| Spermatogenic Failure 16 |
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| Male Infertility Due To Acephalic Spermatozoa |
|
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| Spermatogenic Failure |
|
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| Spermatogenic Failure, Y-Linked, 2 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DNAH6 | MGD | MGI:107744 |
| Canis familiaris | DNAH6 | VGNC | VGNC:40017 |
| Macaca mulatta | DNAH6 | VGNC | VGNC:106147 |
| Bos taurus | DNAH6 | VGNC | VGNC:102820 |
| Rattus norvegicus | DNAH6 | RGD | RGD:621797 |
| Felis catus | DNAH6 | VGNC | VGNC:61546 |
| Others | DNAH6 | NCBI |