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SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 [ Homo sapiens (human) ]

Gene ID: 6625, updated on 7-Apr-2024

Summary

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Official Symbol
SNRNP70provided by HGNC
Official Full Name
small nuclear ribonucleoprotein U1 subunit 70provided by HGNC
Primary source
HGNC:HGNC:11150
See related
Ensembl:ENSG00000104852 MIM:180740; AllianceGenome:HGNC:11150
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RPU1; Snp1; U1AP; U170K; U1RNP; RNPU1Z; SNRP70; U1-70K
Summary
Enables U1 snRNA binding activity. Involved in mRNA splicing, via spliceosome and regulation of RNA splicing. Located in nucleoplasm. Part of U1 snRNP and spliceosomal complex. Implicated in disease of mental health and systemic lupus erythematosus. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 63.5), spleen (RPKM 63.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19q13.33
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49085451..49108604)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52080187..52103340)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49588708..49611861)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49574847-49575348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49575349-49575848 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49577315-49577474 Neighboring gene potassium voltage-gated channel subfamily A member 7 Neighboring gene RNA, 7SL, cytoplasmic 708, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49603173-49604028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49604029-49604882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49610053-49610894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49621711-49622222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49623585-49624085 Neighboring gene lin-7 homolog B, crumbs cell polarity complex component Neighboring gene chromosome 19 open reading frame 73 Neighboring gene PTPRF interacting protein alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49635887-49636531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49640079-49640585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49644909-49645502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14927

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A specific gene-splicing alteration in the SNRNP70 gene as a hallmark of an ALS subtype. Nakaya T. Gene, 2022 Apr 15. PMID 35101583
  2. A potential mechanism underlying U1 snRNP inhibition of the cleavage step of mRNA 3' processing. Deng Y, et al. Biochem Biophys Res Commun, 2020 Sep 10. PMID 32828285
  3. Low-complexity domain of U1-70K modulates phase separation and aggregation through distinctive basic-acidic motifs. Xue S, et al. Sci Adv, 2019 Nov. PMID 31723601, Free PMC Article
  4. Mapping epitopes of U1-70K autoantibodies at single-amino acid resolution. Haddon DJ, et al. Autoimmunity, 2015. PMID 26333287, Free PMC Article
  5. Aggregation properties of the small nuclear ribonucleoprotein U1-70K in Alzheimer disease. Diner I, et al. J Biol Chem, 2014 Dec 19. PMID 25355317, Free PMC Article

See all (229) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical significance of small nuclear ribonucleoprotein U1 subunit 70 in patients with hepatocellular carcinoma.
    Title: Clinical significance of small nuclear ribonucleoprotein U1 subunit 70 in patients with hepatocellular carcinoma.
  2. Galectin-3-U1 snRNP Complexes Initiate Splicing Activity in U1-Depleted Nuclear Extracts.
    Title: Galectin-3-U1 snRNP Complexes Initiate Splicing Activity in U1-Depleted Nuclear Extracts.
  3. A specific gene-splicing alteration in the SNRNP70 gene as a hallmark of an ALS subtype.
    Title: A specific gene-splicing alteration in the SNRNP70 gene as a hallmark of an ALS subtype.
  4. CLK1 reorganizes the splicing factor U1-70K for early spliceosomal protein assembly.
    Title: CLK1 reorganizes the splicing factor U1-70K for early spliceosomal protein assembly.
  5. Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
    Title: Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
  6. A potential mechanism underlying U1 snRNP inhibition of the cleavage step of mRNA 3' processing.
    Title: A potential mechanism underlying U1 snRNP inhibition of the cleavage step of mRNA 3' processing.
  7. Data show that two fragments in the low-complexity (LC) domain of small nuclear ribonucleoprotein U1 subunit 70 (U1-70K) can undergo liquid-liquid phase separation (LLPS).
    Title: Low-complexity domain of U1-70K modulates phase separation and aggregation through distinctive basic-acidic motifs.
  8. Screen using siRNA revealed depletion of U1 snRNP components SNRPA, SNRNP70 or SNRPD2 caused significant cytoplasmic localization of MEG3 reporter transcripts.
    Title: Nuclear retention element recruits U1 snRNP components to restrain spliced lncRNAs in the nucleus.
  9. These results indicate that the galectin-3-U1 snRNP-pre-mRNA ternary complex is a functional E complex and that U1 snRNP is required to assemble galectin-3 onto an active spliceosome
    Title: A 10S galectin-3-U1 snRNP complex assembles into active spliceosomes.
  10. The epitopes of U1-70K autoantibodies have been mapped at single-amino acid resolution.
    Title: Mapping epitopes of U1-70K autoantibodies at single-amino acid resolution.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, small nuclear ribonucleoprotein 70kDa (SNRNP70), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with SNRNP70 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables U1 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables U1 snRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 IC
Inferred by Curator
more info
 PubMed 
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of chaperone-mediated autophagy TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of protein refolding TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of ATP-dependent activity TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of RNA splicing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of U1 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U1 snRNP IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U1 snRNP IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of U2-type prespliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of spliceosomal complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of spliceosomal complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
U1 small nuclear ribonucleoprotein 70 kDa
Names
U1 snRNP 70 kDa
small nuclear ribonucleoprotein 70kDa (U1)
small nuclear ribonucleoprotein, U1 70kDa subunit

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)

  1. NM_001301069.2 → NP_001287998.1  U1 small nuclear ribonucleoprotein 70 kDa isoform 2

    See identical proteins and their annotated locations for NP_001287998.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AL560281, BC001315, DB189176, X06815
    Consensus CDS
    CCDS74417.1
    UniProtKB/TrEMBL
    A8KAQ5
    Related
    ENSP00000221448.5, ENST00000221448.9
    Conserved Domains (2) summary
    pfam12220
    Location:3 → 93
    U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
    cd12236
    Location:102 → 187
    RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins

  2. NM_003089.6 → NP_003080.2  U1 small nuclear ribonucleoprotein 70 kDa isoform 1

    See identical proteins and their annotated locations for NP_003080.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC001315, BM969999, DB189176, X06815
    Consensus CDS
    CCDS12756.1
    UniProtKB/Swiss-Prot
    B3KUA3, P08621, P78493, P78494, Q15364, Q15686, Q15687, Q15689, Q99377, Q9UE45, Q9UE46, Q9UE47, Q9UE48, Q9UFQ6
    UniProtKB/TrEMBL
    A8KAQ5
    Related
    ENSP00000472998.1, ENST00000598441.6
    Conserved Domains (2) summary
    pfam12220
    Location:3 → 93
    U1snRNP70_N; U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
    cd12236
    Location:102 → 187
    RRM_snRNP70; RNA recognition motif (RRM) found in U1 small nuclear ribonucleoprotein 70 kDa (U1-70K) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49085451..49108604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527240.3 → XP_011525542.2  U1 small nuclear ribonucleoprotein 70 kDa isoform X1

    UniProtKB/TrEMBL
    B3KPV0

  2. XM_047439252.1 → XP_047295208.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X2

    UniProtKB/TrEMBL
    Q9UFS1

  3. XM_011527241.3 → XP_011525543.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X2

    See identical proteins and their annotated locations for XP_011525543.1

    UniProtKB/TrEMBL
    Q9UFS1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52080187..52103340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321840.1 → XP_054177815.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X1

  2. XM_054321842.1 → XP_054177817.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X2

    UniProtKB/TrEMBL
    Q9UFS1

  3. XM_054321841.1 → XP_054177816.1  U1 small nuclear ribonucleoprotein 70 kDa isoform X2

    UniProtKB/TrEMBL
    Q9UFS1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001009820.1: Suppressed sequence

    Description
    NM_001009820.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P08621.2 GenPept UniProtKB/Swiss-Prot:P08621

Gene LinkOut

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