| Type | Description |
|---|---|
| Definition | pre-mRNA processing factor 31 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:33:00 | A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies. | 33095315 |
| 2020-11-28 13:13:00 | ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study. | 31782860 |
| 2020-10-24 14:03:00 | Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. | 32014492 |
| 2020-06-20 11:46:00 | In a mouse model containing the p.A216P mutation in Prpf31, study found mislocalization and aggregation of the mutant Prpf31 protein with concomitant depletion of normal protein. These results indicate mixed haploinsufficiency and dominant negative mechanisms involved in retinal degeneration due to mutations in PRPF31. | 31892304 |
| 2019-12-21 11:27:00 | c.590T>C is a novel pathogenic variant in PRPF31 causing adRP with incomplete penetrance. Disease may be due to protein misfolding and associated abnormal protein trafficking to the nucleus. | 30030392 |
| Type | IDs |
|---|---|
| Synonymous | NY-BR-99, PRP31, RP11, SNRNP61 |
| Gene |
UniProtKB-ID:
PRP31_HUMAN
UniprotKB:
Q8WWY3
UniParc:
UPI000006D382,
UPI000013D407,
UPI00006C21B5,
UPI0002003FC7
EMBL:
BC117389,
AB593025,
AC245052,
AL050369,
AC012314,
CH471135,
AY040822,
AK098547,
AF308303,
AB593024
Ensembl:
ENSG00000105618,
ENSG00000275885
KO:
hsa:26121
|
| Nucleutide sequences |
EMBL-CDS:
BAC05329.1,
AAG48270.1,
BAJ83978.1,
AAI17390.1,
AAK77986.1,
CAB43677.1,
BAJ83979.1,
EAW72190.1
Ensembl_TRS:
ENST00000321030,
ENST00000613693,
ENST00000419967,
ENST00000619391
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000480636,
ENSP00000324122,
ENSP00000483929,
ENSP00000405166
RefSeq:
NP_056444.3,
XP_006723200.1
|
| Others |
UniRef100:
UniRef100_Q8WWY3
UniRef90:
UniRef90_Q8WWY3
UniRef50:
UniRef50_Q8WWY3
UniGene:
Hs.515598
CCDS:
CCDS12879.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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