RP9 (RP9 pre-mRNA splicing factor)

2014-11-01  

Identity

HGNC
LOCATION
7p14.3
LOCUSID
ALIAS
PAP-1,PAP1
FUSION GENES

Other Information

Locus ID:

NCBI: 6100
MIM: 607331
HGNC: 10288
Ensembl: ENSG00000164610

Variants:

dbSNP: 6100
ClinVar: 6100
TCGA: ENSG00000164610
COSMIC: RP9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164610ENST00000297157Q8TA86
ENSG00000164610ENST00000297157A0A090N8Z0
ENSG00000164610ENST00000448915C9J6V2

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
154749942004PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.29
120327322002Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.28
155417262005Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.18
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
156523502005CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing.4

Citation

Dessen P

RP9 (RP9 pre-mRNA splicing factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72772/rp9