RP9

From Wikipedia, the free encyclopedia

Retinitis pigmentosa 9 (autosomal dominant)

Identifiers

RP9; PAP-1

External IDs

OMIM: 607331 MGI: 2157166 HomoloGene: 10290

Gene ontology
Molecular Function:	• nucleic acid binding • protein binding • zinc ion binding • metal ion binding
Cellular Component:	• nucleus • signal recognition particle receptor complex
Biological Process:	• visual perception • RNA splicing • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_203288 (mRNA)
NP_976033 (protein)

NM_018739 (mRNA)
NP_061209 (protein)

Location

Chr 7: 33.1 - 33.12 Mb

Chr 9: 22.2 - 22.22 Mb

Pubmed search

[1]

[2]

Retinitis pigmentosa 9 (autosomal dominant), also known as RP9, is a human gene.^[1]

[edit] References

^ Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant).

[edit] Further reading

Inglehearn C, Keen TJ, al-Maghtheh M, Bhattacharya S (1994). "Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.". Am. J. Hum. Genet. 55 (3): 581–2. PMID 8079997.
Inglehearn CF, Carter SA, Keen TJ, et al. (1993). "A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.". Nat. Genet. 4 (1): 51–3. doi:10.1038/ng0593-51. PMID 8513323.
Maita H, Harada Y, Nagakubo D, et al. (2000). "PAP-1, a novel target protein of phosphorylation by pim-1 kinase.". Eur. J. Biochem. 267 (16): 5168–78. PMID 10931201.
Keen TJ, Hims MM, McKie AB, et al. (2002). "Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.". Eur. J. Hum. Genet. 10 (4): 245–9. doi:10.1038/sj.ejhg.5200797. PMID 12032732.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
Maita H, Kitaura H, Keen TJ, et al. (2004). "PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.". Exp. Cell Res. 300 (2): 283–96. doi:10.1016/j.yexcr.2004.07.029. PMID 15474994.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM (2005). "Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.". Exp. Cell Res. 302 (1): 61–8. doi:10.1016/j.yexcr.2004.08.022. PMID 15541726.
Kuroda TS, Maita H, Tabata T, et al. (2004). "A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase.". Gene 340 (1): 83–98. doi:10.1016/j.gene.2004.05.025. PMID 15556297.
Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM (2005). "CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing.". Exp. Cell Res. 303 (2): 375–87. doi:10.1016/j.yexcr.2004.10.012. PMID 15652350.