Property Summary

NCBI Gene PubMed Count 73
PubMed Score 180.92
PubTator Score 182.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
ovarian cancer 8492 1.69781906604334E-7
psoriasis 6685 6.63495897561008E-6
group 3 medulloblastoma 2254 0.0066313039288392
Gaucher disease type 1 171 0.028887693857478
ependymoma 2514 0.0387196311407122

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.200 0.039
psoriasis 2.700 0.000
group 3 medulloblastoma 1.200 0.007
ovarian cancer 2.400 0.000
Gaucher disease type 1 -1.300 0.029

Synonym

Accession Q8WWY3 E7ESA8 F1T0A4 Q17RB4 Q8N7F9 Q9H271 Q9Y439
Symbols RP11
PRP31
SNRNP61
NY-BR-99

Gene

PDB

2OZB   3JCR   3SIU   3SIV  

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA Inparanoid
S.cerevisiae OMA Inparanoid

Gene RIF (51)

PMID Text
27212874 This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene.
26959129 As PRPF31 mutations cause retinitis pigmentosa by haploinsufficiency, this is a good candidate for adeno-associated virus (AAV)-based gene augmentation therapy.
26894541 The small nuclear ribonucleoprotein U4 core-domain structure has now been re-refined. The U4 Sm site-sequence AAUUUUU has been shown to bind to the seven Sm proteins SmF-SmE-SmG-SmD3-SmB-SmD1-SmD2 in an identical manner as the U1 Sm-site sequence AAUUUGU, except in SmD1 where the bound U replaces G.
24595387 We have identified a novel 14-bp deletion in PRPF31 as the genetic driver of adRP in a large Mexican family that exhibits nonpenetrance and variable expressivity, known properties of this locus.
24319336 Two novel PRPF31 mutations including a complex insertion-deletion mutation have been identified in Chinese families with retinitis pigmentosa.
24244300 identification of the novel "A" insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD.
24116917 A mutation in PRPF31 is hypostatic to a trait acting on CNOT3, with the RP11 phenotype only being observed when there is homozygous (recessive) inheritance of the higher expressivity CNOT3 ("symptomatic" or risk) allele.
23834559 A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.
23343310 The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene.
23288994 Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients occur at a relatively high frequency.
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AA Sequence

MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEY      1 - 70
ISKQAKASEVMGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVK     71 - 140
ELGNSLDKCKNNENLQQILTNATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVES    141 - 210
RMSFIAPNLSIIIGASTAAKIMGVAGGLTNLSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIV    211 - 280
QSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYELKDEIERKFDKWQEPPPVKQVKPLPAPLDGQ    281 - 350
RKKRGGRRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLGKSGSGRVRQTQVNEATKARI    351 - 420
SKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYFSSMAEFLKVK    421 - 490
GEKSGLMST                                                                 491 - 499
//

Text Mined References (79)

PMID Year Title
27212874 2016 Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26959129 2016 Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
26894541 2016 Re-refinement of the spliceosomal U4 snRNP core-domain structure.
24595387 2014 Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
24319336 2013 Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24244300 2013 A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
24116917 2014 Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
23834559 2015 Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
More...