| Type | Description |
|---|---|
| Definition | small nuclear ribonucleoprotein U5 subunit 200 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 14:08:00 | The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit. | 31914407 |
| 2020-01-25 14:36:00 | FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase | 30558886 |
| 2019-12-14 10:45:00 | The phenotype characteristics in autosomal dominant and recessive SNRNP200 mutations show distinct features, with earlier severe disease in the recessive case and a variable disease expression in the dominant inheritance pattern. | 31260034 |
| 2019-10-05 10:53:00 | Mutation Analysis of Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa. | 30360737 |
| 2018-03-31 10:19:00 | Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8/SNRNP200 interactions in yeast. | 29087248 |
| Type | IDs |
|---|---|
| Synonymous | ASCC3L1, BRR2, HELIC2, RP33, U5-200KD |
| Gene |
UniProtKB-ID:
U520_HUMAN
UniprotKB:
O75643
UniParc:
UPI0000207C53,
UPI000007284E
EMBL:
AK024391,
AB018331,
Z70200,
AY572488,
BC007577,
BC065924,
AK090671
Ensembl:
ENSG00000144028
KO:
hsa:23020
|
| Nucleutide sequences |
EMBL-CDS:
AAH07577.1,
AAH65924.1,
BAB14906.1,
BAC03499.1,
CAA94089.1,
BAA34508.2,
AAS78571.1
Ensembl_TRS:
ENST00000323853
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000317123
RefSeq:
NP_054733.2
|
| Others |
UniRef100:
UniRef100_O75643
UniRef90:
UniRef90_O75643
UniRef50:
UniRef50_O75643
UniGene:
Hs.246112
CCDS:
CCDS2020.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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