| Type | Description |
|---|---|
| Definition | dynein axonemal heavy chain 5 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-18 12:04:00 | We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). . Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified. | 32357925 |
| 2019-08-03 12:22:00 | Both DNAH5 and ADGRV1 contribute to ciliary function. | 28927820 |
| 2018-10-20 11:18:00 | A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. | 28939216 |
| 2017-04-08 11:35:00 | to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient. | 27779714 |
| 2017-03-18 11:06:00 | These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis. | 27988889 |
| Type | IDs |
|---|---|
| Synonymous | CILD3, DNAHC5, HL1, KTGNR, PCD |
| Gene |
UniProtKB-ID:
DYH5_HUMAN
UniprotKB:
Q8TE73
UniParc:
UPI0000110101
EMBL:
AY045575,
AY049075,
U61735,
AB046823,
AK026756
Ensembl:
ENSG00000039139
KO:
hsa:1767
|
| Nucleutide sequences |
EMBL-CDS:
BAB15543.1,
BAB13429.2,
AAC50699.1,
AAL06603.1,
AAK92217.1
Ensembl_TRS:
ENST00000265104
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000265104
RefSeq:
NP_001360.1,
XP_016864667.1,
XP_016864673.1,
XP_016864669.1,
XP_016864674.1,
XP_016864675.1,
XP_016864671.1,
XP_016864666.1,
XP_016864672.1,
XP_005248319.2,
XP_016864677.1,
XP_024310156.1,
XP_016864676.1,
XP_024310157.1,
XP_016864668.1,
XP_016864670.1
|
| Others |
UniRef100:
UniRef100_Q8TE73
UniRef90:
UniRef90_Q8TE73
UniRef50:
UniRef50_Q8TE73
UniGene:
Hs.212360
CCDS:
CCDS3882.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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