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

    Gene ID: 6625, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 63.5), spleen (RPKM 63.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNRNP70 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49085451..49108604)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52080187..52103340)
    RS_2024_09 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. Mapping epitopes of U1-70K autoantibodies at single-amino acid resolution. Haddon DJ, et al. Autoimmunity, 2015. PMID 26333287, Free PMC Article
    2. Identification of an snRNP-associated kinase activity that phosphorylates arginine/serine rich domains typical of splicing factors. Woppmann A, et al. Nucleic Acids Res, 1993 Jun 25. PMID 8332490, Free PMC Article
    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. A major B cell epitope present on the apoptotic but not the intact form of the U1-70-kDa ribonucleoprotein autoantigen. Greidinger EL, et al. J Immunol, 2004 Jan 1. PMID 14688384
    5. The diagnosis and classification of mixed connective tissue disease. Tani C, et al. J Autoimmun, 2014 Feb-Mar. PMID 24461387

    See all (258) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The U1-70K and SRSF1 interaction is modulated by phosphorylation during the early stages of spliceosome assembly.
      Title: The U1-70K and SRSF1 interaction is modulated by phosphorylation during the early stages of spliceosome assembly.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
      Title: Dissection of FUS domains involved in regulation of SnRNP70 gene expression.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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