RP9

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]

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; OMA:RP9 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p14.3 Start 33,094,797 bp[1] End 33,109,405 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A3 Start 22,322,343 bp[2] End 22,381,039 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte myocardium of left ventricle muscle of thigh secondary oocyte Skeletal muscle tissue of rectus abdominis apex of heart gastrocnemius muscle body of tongue pylorus sural nerve Top expressed in lacrimal gland Paneth cell seminiferous tubule parotid gland motor neuron vestibular membrane of cochlear duct granulocyte digastric muscle yolk sac migratory enteric neural crest cell More reference expression data BioGPS 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 Species Human Mouse Entrez 6100 55934 Ensembl ENSG00000164610 ENSMUSG00000032239 UniProt Q8TA86 P97762 RefSeq (mRNA) NM_203288 NM_018739 RefSeq (protein) NP_976033 NP_061209 Location (UCSC) Chr 7: 33.09 – 33.11 Mb Chr 9: 22.32 – 22.38 Mb PubMed search [3] [4]
Wikidata
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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 SRSF2 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]