Property Summary

NCBI Gene PubMed Count 44
Grant Count 21
R01 Count 17
Funding $1,953,924.99
PubMed Score 998.62
PubTator Score 351.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Multiple myeloma 1.098 0.001
malignant mesothelioma 1.300 0.000
oligodendroglioma 1.700 0.009
psoriasis -1.400 0.000
osteosarcoma -1.610 0.001
intraductal papillary-mucinous adenoma (... 1.100 0.003
intraductal papillary-mucinous carcinoma... 1.100 0.002
group 3 medulloblastoma 1.600 0.000
ovarian cancer 2.600 0.000
dermatomyositis 1.300 0.001

 GO Function (1)

Gene RIF (16)

PMID Text
21378395 RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Mutant PRPF3 proteins stably associated with tri-snRNPs.
20801516 Observational study of genetic testing. (HuGE Navigator)
20309403 A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa.
18553058 These data support the notion about individual roles for CK2alpha and CK2alpha' in the splicing process.
18395097 TASP1, EPS15R, and PRPF3 expression were significantly induced in HCCs of transgenic EGF2B mice as was P2 promoter-driven HNF4alpha
18211889 U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition
18026141 splicing activity is significantly influenced by the CK2-hPrp3p interaction
17932117 Findings suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and these are likely linked to the retinitis pigmentosa type 18 phenotype.
17517693 splicing factor PRPF3 mutations cause retinal degeneration and form detrimental aggregates in photoreceptor cells
15541726 PAP-1 interacted with Prp3p but not Prp31p in human cells and yeast, and the basic region of PAP-1 and the C-terminal region of Prp3p, regions beside spots found in retinitis pigmentosa mutations, were needed for binding
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AA Sequence

MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAV      1 - 70
EEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKL     71 - 140
QIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQ    141 - 210
ARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPT    211 - 280
LKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEK    281 - 350
LQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEH    351 - 420
PAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAV    421 - 490
QDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKI    491 - 560
EANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKC    561 - 630
VLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD                     631 - 683
//

Text Mined References (55)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25383878 2014 Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23453885 2013 Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21378395 2011 PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
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