Snrnp70 small nuclear ribonucleoprotein 70 (U1) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Snrnp70provided by MGI
Official Full Name: small nuclear ribonucleoprotein 70 (U1)provided by MGI
Primary source: MGI:MGI:98341
See related: Ensembl:ENSMUSG00000063511 AllianceGenome:MGI:98341
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: U1-70; Snrp70; Srnp70; U1-70K; Rnu1p70; Rnulp70; 2700022N21Rik; 3200002N22Rik
Summary: This gene encodes a subunit of the U1 snRNP (small nuclear ribonucleic particle), one of at least five snRNPs to comprise the spliceosome, which functions in processing of pre-mRNAs. The U1 snRNP has been shown to be important in defining the 5' splice site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 132.4), thymus adult (RPKM 114.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.28 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45025878..45045177, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (45376454..45395742, complement)

Chromosome 7 - NC_000073.7 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?

Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
Title: Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
SAM68 interaction with U1A modulates U1 snRNP recruitment and regulates mTor pre-mRNA splicing.
Title: SAM68 interaction with U1A modulates U1 snRNP recruitment and regulates mTor pre-mRNA splicing.
This splice-switching class of molecules is the first to specifically correct the ELP1 exon 20 splicing defect. Our data provide proof of principle of ExSpeU1s-adeno-associated virus particles as a novel therapeutic strategy for FD.
Title: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Snrp70 (e-PCR), detects polymorphism
- UniSTS:479273

AI325098 (e-PCR)
- UniSTS:185711

RH125108 (e-PCR)
- UniSTS:161930

BE114951 (e-PCR)
- UniSTS:247743

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables U1 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables U1 snRNA binding	ISO Inferred from Sequence Orthology more info
enables U1 snRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables U1 snRNP binding	ISO Inferred from Sequence Orthology more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
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 mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of RNA splicing	ISO Inferred from Sequence Orthology more info
involved_in regulation of RNA splicing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of U1 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U1 snRNP	ISO Inferred from Sequence Orthology more info
part_of U1 snRNP	ISS Inferred from Sequence or Structural Similarity more info
part_of U2-type prespliceosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of spliceosomal complex	ISO Inferred from Sequence Orthology more info
part_of spliceosomal complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: U1 small nuclear ribonucleoprotein 70 kDa

Names: U1 small nuclear ribonucleoprotein 70 kDa polypeptide A; U1 snRNP 70 kDa

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_009224.6 → NP_033250.3 U1 small nuclear ribonucleoprotein 70 kDa

See identical proteins and their annotated locations for NP_033250.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the protein.

Source sequence(s)

AC151602

Consensus CDS

CCDS21240.1

UniProtKB/Swiss-Prot

Q3UIW4, Q62376

UniProtKB/TrEMBL

A2RS68

Related

ENSMUSP00000074160.8, ENSMUST00000074575.11

Conserved Domains (2) summary

cd12236
Location:102 → 187

RRM_snRNP70; RNA recognition motif in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins

pfam12220
Location:3 → 93

U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

RNA

NR_126538.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC151602

Related

ENSMUST00000211290.2
NR_126539.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC151602

Related

ENSMUST00000211366.2

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_000073.7 Reference GRCm39 C57BL/6J

Range

45025878..45045177 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152829.1 → XP_036008722.1 U1 small nuclear ribonucleoprotein 70 kDa isoform X2

UniProtKB/TrEMBL

A0A1B0GRR8, Q6ZWP0

Conserved Domains (2) summary

pfam12220
Location:3 → 93

U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

cl17169
Location:102 → 164

RRM_SF; RNA recognition motif (RRM) superfamily
XM_036152830.1 → XP_036008723.1 U1 small nuclear ribonucleoprotein 70 kDa isoform X2

UniProtKB/TrEMBL

A0A1B0GRR8, Q6ZWP0

Related

ENSMUSP00000147636.2, ENSMUST00000209858.2

Conserved Domains (2) summary

pfam12220
Location:3 → 93

U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

cl17169
Location:102 → 164

RRM_SF; RNA recognition motif (RRM) superfamily
XM_036152827.1 → XP_036008720.1 U1 small nuclear ribonucleoprotein 70 kDa isoform X1

Conserved Domains (2) summary

pfam12220
Location:3 → 93

U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

cd12236
Location:102 → 192

RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins
XM_011250831.3 → XP_011249133.1 U1 small nuclear ribonucleoprotein 70 kDa isoform X1

See identical proteins and their annotated locations for XP_011249133.1

Conserved Domains (2) summary

pfam12220
Location:3 → 93

U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

cd12236
Location:102 → 192

RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins
XM_036152828.1 → XP_036008721.1 U1 small nuclear ribonucleoprotein 70 kDa isoform X1

Conserved Domains (2) summary

pfam12220
Location:3 → 93

U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal

cd12236
Location:102 → 192

RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins