| Type | Description |
|---|---|
| Definition | centrosomal protein 78 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-07 10:45:00 | Low CEP78 expression is associated with differentiated thyroid carcinoma. | 30884127 |
| 2017-11-25 14:29:00 | Our results provide evidence that CEP78 is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. | 27627988 |
| 2017-08-19 12:34:00 | we identify Cep78 as a new player that regulates centrosome homeostasis by inhibiting the final step of the enzymatic reaction catalyzed by EDD-DYRK2-DDB1(Vpr)(BP). | 28242748 |
| 2017-08-05 11:18:00 | the interaction between Cep78 and the N-terminal catalytic domain of Plk4 is a new and important element in the centrosome overduplication process. | 27246242 |
| 2017-05-06 12:41:00 | data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa | 27588451 |
| Type | IDs |
|---|---|
| Synonymous | C9orf81, CRDHL, IP63 |
| Gene |
UniProtKB-ID:
CEP78_HUMAN,
A8MST6_HUMAN
UniprotKB:
Q5JTW2,
A8MST6
UniParc:
UPI000153BFA4,
UPI00004A2D96,
UPI000153BFA5,
UPI0000198E75,
UPI0000210B8B
EMBL:
AL353705,
BC091515,
AK022705,
BC128058
Ensembl:
ENSG00000148019
KO:
hsa:84131
|
| Nucleutide sequences |
EMBL-CDS:
BAB14190.1,
AAI28059.1,
AAH91515.1
Ensembl_TRS:
ENST00000642669,
ENST00000424347,
ENST00000643273,
ENST00000376597,
ENST00000415759,
ENST00000277082
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000399286,
ENSP00000495681,
ENSP00000411284,
ENSP00000496423,
ENSP00000365782,
ENSP00000277082
RefSeq:
NP_001336768.1,
NP_001336769.1,
NP_001336767.1,
NP_001092272.1,
NP_001317620.1,
NP_001317623.1,
XP_005252323.1,
NP_115547.1,
XP_016870685.1,
NP_001317622.1
|
| Others |
UniRef100:
UniRef100_Q5JTW2,
UniRef100_A8MST6
UniRef90:
UniRef90_Q5JTW2
UniRef50:
UniRef50_Q5JTW2
UniGene:
Hs.374421
CCDS:
CCDS47985.1,
CCDS83376.1,
CCDS47984.1,
CCDS83377.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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