| Type | Description |
|---|---|
| Definition | exosome component 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:51:00 | Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. | 33462000 |
| 2020-09-12 16:06:00 | A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. | 32645003 |
| 2018-06-23 10:39:00 | This is the first case of mitochondrial dysfunction associated with an EXOSC3 mutation, which expands the phenotypic spectrum of pontocerebellar hypoplasia type 1b. | 28687512 |
| 2017-09-09 10:47:00 | Mutations of EXOSC3/Rrp40p associated with pontocerebellar hypoplasia with progressive cerebral atrophy impact ribosomal RNA processing functions of the exosome in S. cerevisiae. | 28053271 |
| 2017-07-22 10:57:00 | Knock-down of rbm7, exosc8 and exosc3 in zebrafish showed a common pattern of defects in motor neurons and cerebellum. Our data indicate that impaired RNA metabolism may underlie the clinical phenotype by fine tuning gene expression which is essential for correct neuronal differentiation | 27193168 |
| Type | IDs |
|---|---|
| Synonymous | CGI-102, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10 |
| Gene |
UniProtKB-ID:
EXOS3_HUMAN,
Q9NYS3_HUMAN
UniprotKB:
Q9NQT5,
Q9NYS3
UniParc:
UPI000006F1CB,
UPI0000134936,
UPI00003FE520
EMBL:
AF229833,
AF151860,
CH471071,
BC008880,
AK289571,
AL138752,
AF281132,
BC002437,
AK290864
Ensembl:
ENSG00000107371
KO:
hsa:51010
|
| Nucleutide sequences |
EMBL-CDS:
AAH08880.1,
AAF82133.1,
BAF82260.1,
AAD34097.1,
BAF83553.1,
EAW58264.1,
AAH02437.1,
AAF42918.1
Gene_ORFName:
CGI-102
Ensembl_TRS:
ENST00000396521,
ENST00000465229,
ENST00000327304
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000418422,
ENSP00000323046,
ENSP00000379775
RefSeq:
NP_057126.2,
NP_001002269.1
|
| Others |
UniRef100:
UniRef100_Q9NQT5,
UniRef100_A0A6D2WGJ3
UniRef90:
UniRef90_Q9NQT5-2,
UniRef90_Q9NQT5
UniRef50:
UniRef50_Q9NQT5,
UniRef50_Q9NQT5-2
UniGene:
Hs.602571,
Hs.713483
CCDS:
CCDS43805.1,
CCDS35016.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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