RP9

RP9
Identifiers
Aliases	RP9 , PAP-1, PAP1, retinitis pigmentosa 9 (autosomal dominant), pre-mRNA splicing factor, RP9 pre-mRNA splicing factor
External IDs	OMIM: 607331 MGI: 2157166 HomoloGene: 10290 GeneCards: RP9
Gene location (Human)
Chr.	Chromosome 7 (human)
End	33,109,405 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	22,381,039 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; gastrocnemius muscle; ; body of tongue; ; pylorus; ; sural nerve; ; vastus lateralis muscle; ; cardia; ; atrium; ; deltoid muscle;
	Top expressed in
	lacrimal gland; ; Paneth cell; ; seminiferous tubule; ; parotid gland; ; motor neuron; ; digastric muscle; ; yolk sac; ; internal carotid artery; ; crypt of lieberkuhn of small intestine; ; facial motor nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding ; metal ion binding ; RNA binding ;
Cellular component	signal recognition particle receptor complex ; nucleus ; cytosol ;
Biological process	cognition ; RNA splicing ;
	Sources:Amigo / QuickGO
Orthologs
	6100
	55934
	ENSG00000164610
	ENSMUSG00000032239
	Q8TA86
	P97762
	NM_203288
	NM_018739
	NP_976033
	NP_061209
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 12, 2023

Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.^[5]

Function

The removal of introns from nuclear pre-mRNAs occurs on a complex called a spliceosome, which is made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. The exact role of PAP-1 in splicing is not fully understood, but it is thought that PAP-1 localizes in nuclear speckles containing the splicing factor SC35 and interacts directly with another splicing factor, U2AF35.^[6]

Clinical significance

Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.^[7]

Interactions

RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.^[6]

Related Research Articles

Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene and a G-protein-coupled receptor (GPCR). It is the opsin of the rod cells in the retina and a light-sensitive receptor protein that triggers visual phototransduction in rods. Rhodopsin mediates dim light vision and thus is extremely sensitive to light. When rhodopsin is exposed to light, it immediately photobleaches. In humans, it is regenerated fully in about 30 minutes, after which the rods are more sensitive. Defects in the rhodopsin gene cause eye diseases such as retinitis pigmentosa and congenital stationary night blindness.

Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.

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Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000164610 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032239 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant)".
1 2 Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM (November 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.
↑ Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF (April 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.

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. PMC 1918416 . 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. S2CID 33087284.
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. doi: 10.1046/j.1432-1327.2000.01585.x . 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961 . 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. PMC 528928 . 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000164610 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032239 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant)".

[pmid15474994-6] 1 2 Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM (November 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.

[pmid12032732-7] Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF (April 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.

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RP9

Contents

Function

Clinical significance

Interactions

Related Research Articles

References

Further reading