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    Prpf3 pre-mRNA processing factor 3 [ Mus musculus (house mouse) ]

    Gene ID: 70767, updated on 12-May-2024

    Summary

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    Official Symbol
    Prpf3provided by MGI
    Official Full Name
    pre-mRNA processing factor 3provided by MGI
    Primary source
    MGI:MGI:1918017
    See related
    Ensembl:ENSMUSG00000015748 AllianceGenome:MGI:1918017
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    3632413F13Rik
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in spliceosomal tri-snRNP complex assembly. Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in Cajal body; cytosol; and nuclear speck. Predicted to be part of U2-type precatalytic spliceosome and U4/U6 x U5 tri-snRNP complex. Is expressed in central nervous system; genitourinary system; gut gland; heart; and sensory organ. Used to study retinitis pigmentosa 18. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 18. Orthologous to human PRPF3 (pre-mRNA processing factor 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 11.3), liver E14 (RPKM 7.8) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Prpf3 in Genome Data Viewer
    Location:
    3 F2.1; 3 41.25 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (95737436..95763197, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (95830124..95855885, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene regulation of nuclear pre-mRNA domain containing 2 Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene STARR-seq mESC enhancer starr_08396 Neighboring gene predicted gene, 29948 Neighboring gene STARR-positive B cell enhancer ABC_E10199 Neighboring gene RIKEN cDNA C920021L13 gene Neighboring gene STARR-positive B cell enhancer ABC_E9562 Neighboring gene mitochondrial ribosomal protein S21 Neighboring gene cDNA sequence BC028528 Neighboring gene circadian associated repressor of transcription

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Alternative splicing and retinal degeneration. Liu MM, et al. Clin Genet, 2013 Aug. PMID 23647439, Free PMC Article
    2. Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration. Graziotto JJ, et al. Invest Ophthalmol Vis Sci, 2008 Sep. PMID 18552388
    3. Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Farkas MH, et al. Am J Pathol, 2014 Oct. PMID 25111227, Free PMC Article
    4. Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Graziotto JJ, et al. Invest Ophthalmol Vis Sci, 2011 Jan. PMID 20811066, Free PMC Article
    5. EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas. Niehof M, et al. Gastroenterology, 2008 Apr. PMID 18395097

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mouse retinal pigment epithelium (RPE)is the primary cell affected by mutations in the RNA splicing factors (PRPF3, PRPF8, and PRPF31), and these changes occur at an early age.
      Title: Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.
    2. analyzed the spatial and temporal expression of the PRPF3 gene in mice and found that it is highly expressed in retinal cells relative to other tissues and its expression is developmentally regulated
      Title: Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.
    3. The finding of similar degenerative changes in RPE cells of all three mouse models suggests that the retinal pigment epithelium may be the primary cell type affected in the RNA splicing factor forms of retinitis pigmentosa.
      Title: Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
    4. TASP1, EPS15R, and PRPF3 expression were significantly induced in HCCs of transgenic EGF2B mice as was P2 promoter-driven HNF4alpha
      Title: EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in spliceosomal tri-snRNP complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Cajal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U2-type precatalytic spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U4/U6 x U5 tri-snRNP complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    U4/U6 small nuclear ribonucleoprotein Prp3
    Names
    PRP3 pre-mRNA processing factor 3 homolog
    pre-mRNA-splicing factor 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001316751.2 → NP_001303680.1  U4/U6 small nuclear ribonucleoprotein Prp3

      Status: VALIDATED

      Source sequence(s)
      AC093317, AK167435, BY308032
      Consensus CDS
      CCDS17621.1
      UniProtKB/Swiss-Prot
      Q3TJH4, Q922U1, Q9D6C6
      UniProtKB/TrEMBL
      Q3UT19
      Related
      ENSMUSP00000015892.8, ENSMUST00000015892.14
      Conserved Domains (3) summary
      smart00311
      Location:3 → 73
      PWI; domain in splicing factors
      pfam06544
      Location:546 → 673
      DUF1115; Protein of unknown function (DUF1115)
      pfam08572
      Location:309 → 521
      PRP3; pre-mRNA processing factor 3 (PRP3)

    2. NM_027541.5 → NP_081817.2  U4/U6 small nuclear ribonucleoprotein Prp3

      See identical proteins and their annotated locations for NP_081817.2

      Status: VALIDATED

      Source sequence(s)
      AC093317
      Consensus CDS
      CCDS17621.1
      UniProtKB/Swiss-Prot
      Q3TJH4, Q922U1, Q9D6C6
      UniProtKB/TrEMBL
      Q3UT19
      Related
      ENSMUSP00000124950.2, ENSMUST00000161476.8
      Conserved Domains (3) summary
      smart00311
      Location:3 → 73
      PWI; domain in splicing factors
      pfam06544
      Location:546 → 673
      DUF1115; Protein of unknown function (DUF1115)
      pfam08572
      Location:309 → 521
      PRP3; pre-mRNA processing factor 3 (PRP3)

    RNA

    1. NR_151629.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093317

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      95737436..95763197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006502081.3 → XP_006502144.1  U4/U6 small nuclear ribonucleoprotein Prp3 isoform X1

      UniProtKB/TrEMBL
      Q3UT19
      Conserved Domains (2) summary
      pfam06544
      Location:411 → 538
      DUF1115; Protein of unknown function (DUF1115)
      pfam08572
      Location:173 → 386
      PRP3; pre-mRNA processing factor 3 (PRP3)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q922U1.1 GenPept UniProtKB/Swiss-Prot:Q922U1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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