PRPF3

PRPF3
Identifiers
Aliases	PRPF3, pre-mRNA processing factor 3, HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90
External IDs	OMIM: 607301; MGI: 1918017; HomoloGene: 3447; GeneCards: PRPF3; OMA:PRPF3 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X4Q, 3JCR
Gene location (Human) Chr. Chromosome 1 (human) Band 1q21.2 Start 150,321,479 bp End 150,353,233 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F2.1 Start 95,737,436 bp End 95,763,197 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve right uterine tube left ovary right ovary left lobe of thyroid gland right lobe of thyroid gland anterior pituitary cerebellar hemisphere right hemisphere of cerebellum body of uterus Top expressed in tail of embryo genital tubercle primitive streak ventricular zone epiblast neural layer of retina otic vesicle yolk sac otic placode primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding identical protein binding RNA binding Cellular component Cajal body U4/U6 x U5 tri-snRNP complex spliceosomal complex nucleus nucleoplasm cytosol nuclear speck protein-containing complex U2-type precatalytic spliceosome Biological process RNA splicing, via transesterification reactions mRNA splicing, via spliceosome mRNA processing spliceosomal tri-snRNP complex assembly RNA splicing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9129 70767 Ensembl ENSG00000117360 ENSMUSG00000015748 UniProt O43395 Q922U1 RefSeq (mRNA) NM_004698 NM_001350529 NM_027541 NM_001316751 RefSeq (protein) NP_004689 NP_001337458 NP_001303680 NP_081817 Location (UCSC) Chr 1: 150.32 – 150.35 Mb Chr 3: 95.74 – 95.76 Mb PubMed search
Wikidata
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U4/U6 small nuclear ribonucleoprotein Prp3 is a protein that in humans is encoded by the PRPF3 gene.

Function

See also: U4 spliceosomal RNA and U6 spliceosomal RNA

The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. PRPF3 is one of several proteins that associate with U4 and U6 snRNPs.[supplied by OMIM]

Interactions

PRPF3 has been shown to interact with DVL3.

Further reading

• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Xu SY, Schwartz M, Rosenberg T, Gal A (Aug 1996). "A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1". Human Molecular Genetics. 5 (8): 1193–7. doi:10.1093/hmg/5.8.1193. PMID 8842740.
• Wang A, Forman-Kay J, Luo Y, Luo M, Chow YH, Plumb J, Friesen JD, Tsui LC, Heng HH, Woolford JL, Hu J (Nov 1997). "Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome". Human Molecular Genetics. 6 (12): 2117–26. doi:10.1093/hmg/6.12.2117. PMID 9328476.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Horowitz DS, Kobayashi R, Krainer AR (Dec 1997). "A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs". RNA. 3 (12): 1374–87. PMC 1369579. PMID 9404889.
• Heng HH, Wang A, Hu J (Mar 1998). "Mapping of the human HPRP3 and HPRP4 genes encoding U4/U6-associated splicing factors to chromosomes 1q21.1 and 9q31-q33". Genomics. 48 (2): 273–5. doi:10.1006/geno.1997.5181. PMID 9521884.
• Xu SY, Rosenberg T, Gal A (Apr 1998). "Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q". Human Genetics. 102 (4): 493–4. doi:10.1007/s004390050728. PMID 9600251. S2CID 39815355.
• Reidt U, Reuter K, Achsel T, Ingelfinger D, Lührmann R, Ficner R (Mar 2000). "Crystal structure of the human U4/U6 small nuclear ribonucleoprotein particle-specific SnuCyp-20, a nuclear cyclophilin" (PDF). The Journal of Biological Chemistry. 275 (11): 7439–42. doi:10.1074/jbc.275.11.7439. PMID 10713041. S2CID 20261807.
• Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS (Jan 2002). "Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa". Human Molecular Genetics. 11 (1): 87–92. doi:10.1093/hmg/11.1.87. PMID 11773002.
• Horowitz DS, Lee EJ, Mabon SA, Misteli T (Feb 2002). "A cyclophilin functions in pre-mRNA splicing". The EMBO Journal. 21 (3): 470–80. doi:10.1093/emboj/21.3.470. PMC 125845. PMID 11823439.
• Gonzalez-Santos JM, Wang A, Jones J, Ushida C, Liu J, Hu J (Jun 2002). "Central region of the human splicing factor Hprp3p interacts with Hprp4p". The Journal of Biological Chemistry. 277 (26): 23764–72. doi:10.1074/jbc.M111461200. PMID 11971898.
• Nottrott S, Urlaub H, Lührmann R (Oct 2002). "Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins". The EMBO Journal. 21 (20): 5527–38. doi:10.1093/emboj/cdf544. PMC 129076. PMID 12374753.
• Ajuh P, Chusainow J, Ryder U, Lamond AI (Dec 2002). "A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing". The EMBO Journal. 21 (23): 6590–602. doi:10.1093/emboj/cdf652. PMC 136956. PMID 12456665.
• Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M (May 2003). "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa". Investigative Ophthalmology & Visual Science. 44 (5): 2171–7. doi:10.1167/iovs.02-0871. PMID 12714658.
• Reidt U, Wahl MC, Fasshauer D, Horowitz DS, Lührmann R, Ficner R (Aug 2003). "Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide". Journal of Molecular Biology. 331 (1): 45–56. doi:10.1016/S0022-2836(03)00684-3. hdl:11858/00-001M-0000-0012-F238-B. PMID 12875835.
• Wada Y, Itabashi T, Sato H, Tamai M (Nov 2004). "Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene". Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie. 242 (11): 956–61. doi:10.1007/s00417-004-0923-x. PMID 15085354. S2CID 22773384.
• Stanĕk D, Neugebauer KM (Sep 2004). "Detection of snRNP assembly intermediates in Cajal bodies by fluorescence resonance energy transfer". The Journal of Cell Biology. 166 (7): 1015–25. doi:10.1083/jcb.200405160. PMC 2172029. PMID 15452143.
• Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM (Jan 2005). "Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex". Experimental Cell Research. 302 (1): 61–8. doi:10.1016/j.yexcr.2004.08.022. PMID 15541726.

External links

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview