Snrnp48 small nuclear ribonucleoprotein 48 (U11/U12) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Snrnp48provided by MGI
Official Full Name: small nuclear ribonucleoprotein 48 (U11/U12)provided by MGI
Primary source: MGI:MGI:1915047
See related: Ensembl:ENSMUSG00000021431 AllianceGenome:MGI:1915047
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: C6orf151; 1110050F08Rik; 6530403A03Rik
Summary: Predicted to enable metal ion binding activity. Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in nucleus. Predicted to be part of U12-type spliceosomal complex. Predicted to be active in cytosol and nucleoplasm. Orthologous to human SNRNP48 (small nuclear ribonucleoprotein U11/U12 subunit 48). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.5), limb E14.5 (RPKM 8.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 18.04 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (38388880..38411639)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (38204914..38227663)

Chromosome 13 - NC_000079.7 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?

Using site-specific cross-linking, we detected an interaction between the U11-48K protein and U12-type 5' splice sites (5'ss).
Title: The U11-48K protein contacts the 5' splice site of U12-type introns and the U11-59K protein.

Submit: New GeneRIF Correction

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

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U12-type spliceosomal complex	IBA Inferred from Biological aspect of Ancestor more info
part_of U12-type spliceosomal complex	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	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: U11/U12 small nuclear ribonucleoprotein 48 kDa protein

Names: U11/U12 snRNP 48 kDa protein

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_026382.2 → NP_080658.2 U11/U12 small nuclear ribonucleoprotein 48 kDa protein

See identical proteins and their annotated locations for NP_080658.2

Status: VALIDATED

Source sequence(s)

AK004216, AK012916, BY263553, BY430458

Consensus CDS

CCDS36635.1

UniProtKB/Swiss-Prot

Q8BIU0, Q8BJ30, Q8CFF6, Q8VDQ5, Q9CSG3, Q9CVM5, Q9D361

Related

ENSMUSP00000089230.6, ENSMUST00000091641.13

Conserved Domains (1) summary

pfam05253
Location:56 → 79

zf-U11-48K; U11-48K-like CHHC zinc finger

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_000079.7 Reference GRCm39 C57BL/6J

Range

38388880..38411639

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244332.3 → XP_011242634.1 U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X3

Conserved Domains (1) summary

pfam05253
Location:56 → 79

zf-U11-48K; U11-48K-like CHHC zinc finger
XM_006516735.1 → XP_006516798.1 U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X2
XM_017315577.1 → XP_017171066.1 U11/U12 small nuclear ribonucleoprotein 48 kDa protein isoform X1