| Type | Description |
|---|---|
| Definition | pre-mRNA processing factor 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-06-02 10:21:00 | Results from whole-exome sequencing identified 2 variants c.1345C > G (p.R449G) and c.1532A > C (p.H511P) in PRPF3 which co-segregate with retinitis pigmentosa in two families respectively. | 27886254 |
| 2017-11-11 12:39:00 | SUMO conjugation plays a role during mRNA splicing processes including a role for Prp3 SUMOylation in U4/U6*U5 tri-snRNP formation and/or recruitment. | 28379520 |
| 2011-08-27 10:15:00 | RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Mutant PRPF3 proteins stably associated with tri-snRNPs. | 21378395 |
| 2010-12-05 22:08:00 | Observational study of genetic testing. (HuGE Navigator) | 20801516 |
| 2010-05-31 11:53:00 | A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa. | 20309403 |
| Type | IDs |
|---|---|
| Synonymous | HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90 |
| Gene |
UniProtKB-ID:
PRPF3_HUMAN
UniprotKB:
O43395
UniParc:
UPI00017A7A6C,
UPI00000729AA
EMBL:
BC001954,
AK299980,
CH471121,
BC000184,
AF016370,
AF001947,
AL611942
Ensembl:
ENSG00000117360
KO:
hsa:9129
|
| Nucleutide sequences |
EMBL-CDS:
EAW53556.1,
AAH01954.1,
AAH00184.1,
AAC09069.1,
AAC51926.1,
BAG61801.1
Ensembl_TRS:
ENST00000324862
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000315379
RefSeq:
NP_004689.1,
NP_001337458.1,
XP_011508433.1,
XP_011508434.1,
XP_016858279.1,
XP_016858280.1,
XP_011508432.1
|
| Others |
UniRef100:
UniRef100_O43395
UniRef90:
UniRef90_O43395
UniRef50:
UniRef50_O43395
UniGene:
Hs.11776
CCDS:
CCDS951.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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