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

Summary

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 identical protein binding activity; snRNA binding activity; and snRNP binding activity. Predicted to be involved in ribonucleoprotein complex localization and spliceosomal tri-snRNP complex assembly. Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in Cajal body and nuclear speck. Predicted to be part of nucleus. Is expressed in embryo. 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, Apr 2022]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
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.
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.
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.
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.
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.
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).
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (5)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:235586 (e-PCR)
- UniSTS:235586

AW554706 (e-PCR)
- UniSTS:185690

NoName (e-PCR)
- UniSTS:234410

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables U4 snRNA binding	ISO Inferred from Sequence Orthology more info
enables U4atac snRNA binding	ISO Inferred from Sequence Orthology 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 ribonucleoprotein complex binding	ISO Inferred from Sequence Orthology more info	PubMed
enables snRNP 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 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 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

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 U2-type precatalytic spliceosome	ISO Inferred from Sequence Orthology more info
part_of U4 snRNP	IBA Inferred from Biological aspect of Ancestor 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 U4atac snRNP	ISO Inferred from Sequence Orthology 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
part_of precatalytic spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation 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)

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]
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