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Prpf31 pre-mRNA processing factor 31 [ Mus musculus (house mouse) ]

Gene ID: 68988, updated on 2-Nov-2024

Summary

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Official Symbol
Prpf31provided by MGI
Official Full Name
pre-mRNA processing factor 31provided by MGI
Primary source
MGI:MGI:1916238
See related
Ensembl:ENSMUSG00000008373 AllianceGenome:MGI:1916238
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
RP11; PRP31; 1500019O16Rik; 2810404O06Rik
Summary
Predicted to enable several functions, including U4atac snRNA binding activity; identical protein binding activity; and snRNP binding activity. Predicted to be involved in ribonucleoprotein complex localization and spliceosomal tri-snRNP complex assembly. Predicted to be located in Cajal body and nuclear speck. Predicted to be part of nucleus. Is expressed in several structures, including hemolymphoid system; liver; lung; muscle tissue; and retina. Used to study retinitis pigmentosa 11. Human ortholog(s) of this gene implicated in retinitis pigmentosa 11. Orthologous to human PRPF31 (pre-mRNA processing factor 31). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 27.4), CNS E14 (RPKM 16.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Prpf31 in Genome Data Viewer
Location:
7 A1; 7 2.09 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (3632984..3645484)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (3629985..3642485)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 Neighboring gene TCF3 (E2A) fusion partner Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:3581200-3581309 Neighboring gene STARR-positive B cell enhancer ABC_E2811 Neighboring gene predicted gene 15927 Neighboring gene STARR-seq mESC enhancer starr_17914 Neighboring gene CCR4-NOT transcription complex, subunit 3 Neighboring gene microRNA 3572 Neighboring gene STARR-positive B cell enhancer ABC_E1077 Neighboring gene leukocyte receptor cluster (LRC) member 1 Neighboring gene transmembrane channel-like gene family 4

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 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. Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Mordes D, et al. Neurobiol Dis, 2007 May. PMID 17350276, Free PMC Article
  2. Retinal Pigment Epithelial Cells: The Unveiled Component in the Etiology of Prpf Splicing Factor-Associated Retinitis Pigmentosa. Hamieh A, et al. Adv Exp Med Biol, 2019. PMID 31884616
  3. Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Bujakowska K, et al. Invest Ophthalmol Vis Sci, 2009 Dec. PMID 19578015
  4. Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins. Valdés-Sánchez L, et al. Mol Med, 2019 Dec 31. PMID 31892304, Free PMC Article
  5. Formation of 53BP1 foci and ATM activation under oxidative stress is facilitated by RNA:DNA hybrids and loss of ATM-53BP1 expression promotes photoreceptor cell survival in mice. Bhatia V, et al. F1000Res, 2018. PMID 30345028, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
    Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
  2. In a mouse model containing the p.A216P mutation in Prpf31, study found mislocalization and aggregation of the mutant Prpf31 protein with concomitant depletion of normal protein. These results indicate mixed haploinsufficiency and dominant negative mechanisms involved in retinal degeneration due to mutations in PRPF31.
    Title: Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
  3. major retinal pigment epithelium defects were identified in Prpf31-mutant mice
    Title: Retinal Pigment Epithelial Cells: The Unveiled Component in the Etiology of Prpf Splicing Factor-Associated Retinitis Pigmentosa.
  4. 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.
  5. found that PRP31 and PRPC8 as well as snRNAs are highly expressed in retinal cells
    Title: Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.
  6. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31
    Title: CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31.
  7. 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.
  8. The results imply that Prpf31 is necessary for survival, and there is no compensation mechanism in mouse for the lack of this splicing factor
    Title: Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
  9. Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa.
    Title: Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
  10. Our results indicate that PRPF31 mutations lead to defective pre-mRNA splicing of photoreceptor-specific genes and that the ubiquitously expressed adRP gene, PRPF31, is critical for pre-mRNA splicing of a subset of photoreceptor genes.
    Title: Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (3)  1 citation

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 U4 snRNA binding IEA
Inferred from Electronic Annotation
more info
  
enables U4atac snRNA binding ISO
Inferred from Sequence Orthology
more info
  
enables U4atac snRNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
  
enables protein-macromolecule adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ribonucleoprotein complex binding ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables snRNP binding IEA
Inferred from Electronic Annotation
more info
  
enables snRNP binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within mRNA splicing, via spliceosome ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in mRNA splicing, via spliceosome ISO
Inferred from Sequence Orthology
more info
  
involved_in mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ribonucleoprotein complex localization IEA
Inferred from Electronic Annotation
more info
  
involved_in ribonucleoprotein complex localization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within spliceosomal tri-snRNP complex assembly ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in spliceosomal tri-snRNP complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in spliceosomal tri-snRNP complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Cajal body ISO
Inferred from Sequence Orthology
more info
 PubMed 
part_of MLL1 complex ISO
Inferred from Sequence Orthology
more info
  
part_of MLL1 complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of U2-type precatalytic spliceosome ISO
Inferred from Sequence Orthology
more info
  
part_of U2-type precatalytic spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of U4 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U4 snRNP IEA
Inferred from Electronic Annotation
more info
  
part_of U4 snRNP ISO
Inferred from Sequence Orthology
more info
  
part_of U4/U6 x U5 tri-snRNP complex ISO
Inferred from Sequence Orthology
more info
 PubMed 
part_of U4/U6 x U5 tri-snRNP complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of U4atac snRNP ISO
Inferred from Sequence Orthology
more info
  
part_of U4atac snRNP ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of precatalytic spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of spliceosomal tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
U4/U6 small nuclear ribonucleoprotein Prp31
Names
PRP31 pre-mRNA processing factor 31 homolog
U4/U6 snRNP 61 kDa protein
protein 61K

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_001159714.1 → NP_001153186.1  U4/U6 small nuclear ribonucleoprotein Prp31 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform 1.
    Source sequence(s)
    AC171680, BB839183, BC061461
    Consensus CDS
    CCDS51965.1
    UniProtKB/Swiss-Prot
    Q8CCF0
    Related
    ENSMUSP00000136031.2, ENSMUST00000179769.8
    Conserved Domains (1) summary
    COG1498
    Location:77 → 340
    SIK1; RNA processing factor Prp31, contains Nop domain [Translation, ribosomal structure and biogenesis]

  2. NM_027328.4 → NP_081604.3  U4/U6 small nuclear ribonucleoprotein Prp31 isoform 1

    See identical proteins and their annotated locations for NP_081604.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC171680, AK033283, AK051260, BB839183
    Consensus CDS
    CCDS39729.1
    UniProtKB/Swiss-Prot
    E9QPM6, Q6P7X2, Q8BQ91, Q8C8U4, Q8C8V5, Q8CCF0, Q8CCG6, Q8CF52, Q8VBW3
    Related
    ENSMUSP00000008517.7, ENSMUST00000008517.13
    Conserved Domains (2) summary
    pfam01798
    Location:100 → 330
    Nop; snoRNA binding domain, fibrillarin
    pfam09785
    Location:337 → 465
    Prp31_C; Prp31 C terminal domain

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_000073.7 Reference GRCm39 C57BL/6J

    Range
    3632984..3645484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CCF0.3 GenPept UniProtKB/Swiss-Prot:Q8CCF0

Gene LinkOut

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