Snrnp40 small nuclear ribonucleoprotein 40 (U5) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Snrnp40provided by MGI
Official Full Name: small nuclear ribonucleoprotein 40 (U5)provided by MGI
Primary source: MGI:MGI:1913835
See related: Ensembl:ENSMUSG00000074088 AllianceGenome:MGI:1913835
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: Wdr57; Prp8bp; 0610009C03Rik
Summary: Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in cytosol and nuclear speck. Predicted to be part of U2-type catalytic step 2 spliceosome. Is expressed in liver; lung; metanephros; renal cortex; and submandibular gland primordium. Orthologous to human SNRNP40 (small nuclear ribonucleoprotein U5 subunit 40). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 42.3), limb E14.5 (RPKM 31.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 63.43 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (130253925..130283826)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (130360132..130390033)

Chromosome 4 - NC_000070.7 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?

these studies report a new immunodeficiency disorder in mice caused by a viable hypomorphic mutation of Snrnp40
Title: Syndromic immune disorder caused by a viable hypomorphic allele of spliceosome component Snrnp40.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Spontaneous (1) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Component	Evidence Code	Pubs
part_of U2-type catalytic step 2 spliceosome	ISO Inferred from Sequence Orthology more info
part_of U4/U6 x U5 tri-snRNP complex	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 cytosol	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: U5 small nuclear ribonucleoprotein 40 kDa protein

Names: U5 snRNP 40 kDa protein; U5 snRNP-specific protein (Prp8-binding); WD repeat domain 57 (U5 snRNP specific); WD repeat-containing protein 57; small nuclear ribonucleoprotein 40kDa (U5)

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_025645.2 → NP_079921.2 U5 small nuclear ribonucleoprotein 40 kDa protein

See identical proteins and their annotated locations for NP_079921.2

Status: VALIDATED

Source sequence(s)

BC058365, BY002298, BY783206

Consensus CDS

CCDS38892.1

UniProtKB/Swiss-Prot

Q3TEJ3, Q6PE01, Q9DCX3

Related

ENSMUSP00000101616.4, ENSMUST00000105994.4

Conserved Domains (2) summary

cd00200
Location:63 → 352

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:71 → 108

7WD40; WD40 repeat [structural motif]