| Type | Description |
|---|---|
| Definition | dynein axonemal heavy chain 11 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:34:00 | Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. | 33243178 |
| 2020-11-28 13:10:00 | DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome. | 31040315 |
| 2020-08-13 15:32:00 | The variant c.9484-1 G>T was confirmed as a novel virulence variant which was predicted to affect splicing by Human Splicing Finder 3.1. And c.12428 T>C was predicted to be mildly pathogenic in silico analysis. We found that DNAH11 polymorphisms display strong associations with asthenozoospermia, and may contribute to an increased risk of male infertility in Chinese patients. | 31160482 |
| 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 |
| 2020-02-15 10:04:00 | The rs2285947 variant of DNAH11 was found to be significantly associated with both ovarian and breast cancers in a cohort of women in India. | 31605628 |
| Type | IDs |
|---|---|
| Synonymous | CILD7, DNAHBL, DNAHC11, DNHBL, DPL11 |
| Gene |
UniProtKB-ID:
DYH11_HUMAN,
H9NAJ7_HUMAN,
H9NAJ8_HUMAN,
Q96NT7_HUMAN
UniprotKB:
Q96DT5,
H9NAJ7,
H9NAJ8,
Q96NT7
UniParc:
UPI0002571C7C,
UPI0002B8CE70,
UPI0002571C7D,
UPI0000072270
EMBL:
AC005078,
AC004595,
AC013481,
AC099653,
AC004002,
JQ247523,
AJ320497,
AC102952,
AK054657,
JQ247524,
AC073102,
AJ132087
Ensembl:
ENSG00000105877
KO:
hsa:8701
|
| Nucleutide sequences |
EMBL-CDS:
CAC60121.1,
CAA10560.1,
AFF19589.1,
AFF19590.1,
BAB70785.1
Ensembl_TRS:
ENST00000409508
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000475939
RefSeq:
NP_001264044.1
|
| Others |
UniRef100:
UniRef100_Q96NT7,
UniRef100_Q96DT5
UniRef90:
UniRef90_Q96DT5,
UniRef90_Q96NT7
UniRef50:
UniRef50_Q9NYC9,
UniRef50_Q96NT7
UniGene:
Hs.520245,
Hs.744069
CCDS:
CCDS64602.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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