| Type | Description |
|---|---|
| Definition | coiled-coil domain containing 151 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:42:00 | Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. | 32490514 |
| 2019-04-13 10:15:00 | CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. | 30504913 |
| 2015-07-25 12:04:00 | observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry | 25224326 |
| 2014-11-08 10:52:00 | CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. | 25192045 |
| Type | IDs |
|---|---|
| Synonymous | CILD30 |
| Gene |
UniProtKB-ID:
CC151_HUMAN,
B3KPH7_HUMAN,
K7EN59_HUMAN
UniprotKB:
A5D8V7,
B3KPH7,
K7EN59
UniParc:
UPI000040CC83,
UPI00017A829A,
UPI00001A8317,
UPI0002840935
EMBL:
CH471106,
BC014252,
AK056363,
AC024575,
BC142637,
AC008481,
AK302113,
BC141828
Ensembl:
ENSG00000198003
KO:
hsa:115948
|
| Nucleutide sequences |
EMBL-CDS:
AAI42638.1,
AAH14252.2,
AAI41829.1,
EAW84213.1,
BAG63492.1,
BAG51689.1
Ensembl_TRS:
ENST00000356392,
ENST00000591179
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348757,
ENSP00000466800
RefSeq:
NP_001289382.1,
XP_016881730.1,
NP_659482.3,
NP_001289383.1
|
| Others |
UniRef100:
UniRef100_B3KPH7,
UniRef100_K7EN59,
UniRef100_A5D8V7
UniRef90:
UniRef90_A5D8V7
UniRef50:
UniRef50_Q8BSN3
UniGene:
Hs.124010
CCDS:
CCDS42501.1
|
| {{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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