Property Summary

NCBI Gene PubMed Count 16
PubMed Score 47.65
PubTator Score 20.30

Knowledge Summary


No data available


  Disease (3)

Disease Target Count P-value
ovarian cancer 8491 3.2e-05
group 3 medulloblastoma 2254 1.0e-04
osteosarcoma 7933 8.1e-04
Disease Target Count Z-score Confidence
Night Blindness 39 3.111 1.6
Myotonia congenita 10 3.026 1.5


  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.391 8.1e-04
group 3 medulloblastoma 1.300 1.0e-04
ovarian cancer 1.600 3.2e-05

Gene RIF (5)

20801516 Observational study of genetic testing. (HuGE Navigator)
15652350 CIR was found to be colocalized with PAP-1 in nuclear speckles.
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
15474994 Has a role in pre-mRNA splicing, further evidence that PAP-1 is indeed the RP9 gene.
12032732 Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

AA Sequence

SSKSNEGSDSE                                                               211 - 221

Text Mined References (15)

PMID Year Title
23227193 2012 Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
16671097 2006 Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
15652350 2005 CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing.
15556297 2004 A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase.
15541726 2005 Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15474994 2004 PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12032732 2002 Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.
10931201 2000 PAP-1, a novel target protein of phosphorylation by pim-1 kinase.
8513323 1993 A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
8079997 1994 Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.