Prpf8 pre-mRNA processing factor 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prpf8provided by MGI
Official Full Name: pre-mRNA processing factor 8provided by MGI
Primary source: MGI:MGI:2179381
See related: Ensembl:ENSMUSG00000020850 AllianceGenome:MGI:2179381
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: Prp8; Sfprp8l; DBF3/PRP8; D11Bwg0410e
Summary: Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity; pre-mRNA intronic binding activity; and snRNA binding activity. Predicted to be involved in cellular response to lipopolysaccharide; cellular response to tumor necrosis factor; and spliceosomal tri-snRNP complex assembly. Predicted to be located in nucleus. Predicted to be part of U2-type spliceosomal complex and spliceosomal snRNP complex. Is expressed in several structures, including central nervous system; gonad; gut; sensory organ; and spleen. Used to study retinitis pigmentosa 13. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 13. Orthologous to human PRPF8 (pre-mRNA processing factor 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 48.5), whole brain E14.5 (RPKM 44.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 45.92 cM

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (75377603..75400273)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (75486777..75509447)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Title: Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Knockdown of PRPF8 significantly impairs mitophagosome formation and subsequent mitochondrial clearance through the aberrant mRNA splicing of ULK1, which mediates macroautophagy/autophagy initiation.
Title: Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.
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.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PRPF8 (e-PCR)
- UniSTS:512655

D11Bwg0410e (e-PCR), detects polymorphism
- UniSTS:141716

RH136405 (e-PCR)
- UniSTS:210395

Prpf8 (e-PCR), detects polymorphism
- UniSTS:479210

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables K63-linked polyubiquitin modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables K63-linked polyubiquitin modification-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables U1 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U2 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U5 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U5 snRNA binding	IEA Inferred from Electronic Annotation more info
enables U6 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U6 snRNA binding	IEA Inferred from Electronic Annotation more info
enables metallopeptidase activity	IEA Inferred from Electronic Annotation more info
enables pre-mRNA intronic binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	ISO Inferred from Sequence Orthology more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
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 spliceosomal tri-snRNP complex assembly	IBA Inferred from Biological aspect of Ancestor more info
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
part_of U2-type catalytic step 1 spliceosome	ISO Inferred from Sequence Orthology more info
part_of U2-type catalytic step 1 spliceosome	ISS Inferred from Sequence or Structural Similarity more info
part_of U2-type catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
part_of U2-type catalytic step 2 spliceosome	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/U6 x U5 tri-snRNP complex	IEA Inferred from Electronic Annotation more info
part_of U4/U6 x U5 tri-snRNP complex	ISO Inferred from Sequence Orthology more info
part_of U5 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U5 snRNP	ISO Inferred from Sequence Orthology more info
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation 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 small nuclear ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pre-mRNA-processing-splicing factor 8

Names: splicing factor Prp8

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.