| Type | Description |
|---|---|
| Definition | centrosomal protein 120 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:58:00 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 30988386 |
| 2019-11-09 12:01:00 | the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. | 29847808 |
| 2019-05-18 10:46:00 | These results indicate that Cep120 helps to maintain centrosome homeostasis by inhibiting untimely maturation of the daughter centriole, and defines a potentially new molecular defect underlying the pathogenesis of ciliopathies such as Jeune Asphyxiating Thoracic Dystrophy and Joubert syndrome. | 29741480 |
| 2017-11-04 12:00:00 | The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses. | 27208211 |
| 2015-11-21 11:56:00 | We establish a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 by linkage analysis and demonstrate that a mutation in CEP120 within this locus is the most likely cause of the disease. | 25361962 |
| Type | IDs |
|---|---|
| Synonymous | CCDC100, JBTS31, SRTD13 |
| Gene |
UniProtKB-ID:
CE120_HUMAN,
B4DLH5_HUMAN
UniprotKB:
Q8N960,
B4DLH5
UniParc:
UPI0000D79C73,
UPI000007451D,
UPI00017A7540,
UPI000020C4C4
EMBL:
AC106792,
AL833929,
AK095646,
CR627324,
AK296999,
BX648687,
BC040527,
AK093409,
AC010369
Ensembl:
ENSG00000168944
KO:
hsa:153241
|
| Nucleutide sequences |
EMBL-CDS:
CAD38785.2,
CAH10561.1,
CAH10371.1,
BAC04596.1,
BAC04155.1,
BAG59537.1
Ensembl_TRS:
ENST00000513565,
ENST00000306481,
ENST00000328236,
ENST00000306467
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000422089,
ENSP00000307419,
ENSP00000327504,
ENSP00000303058
RefSeq:
NP_001159698.1,
NP_001362337.1,
NP_001362336.1,
XP_016864574.1,
NP_001362335.1,
XP_011541488.1,
NP_001362334.1,
NP_001362338.1,
XP_011541487.1,
NP_694955.2
|
| Others |
UniRef100:
UniRef100_Q8N960,
UniRef100_B4DLH5
UniRef90:
UniRef90_Q8N960
UniRef50:
UniRef50_Q7TSG1
UniGene:
Hs.483209
CCDS:
CCDS4134.2,
CCDS54890.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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