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

Summary

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

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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.
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.
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.
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.

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Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Prpf3 (e-PCR), detects polymorphism
- UniSTS:479209

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)

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)
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

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

95737436..95763197 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)