Aliases for SNRNP70 Gene

Aliases for SNRNP70 Gene

  • Small Nuclear Ribonucleoprotein U1 Subunit 70 2 3 5
  • Small Nuclear Ribonucleoprotein, U1 70kDa Subunit 2 3
  • Small Nuclear Ribonucleoprotein 70kDa (U1) 2 3
  • U1 Small Nuclear Ribonucleoprotein 70 KDa 3 4
  • U1 SnRNP 70 KDa 3 4
  • RNPU1Z 3 4
  • SNRP70 3 4
  • U1-70K 3 4
  • RPU1 3 4
  • Small Nuclear Ribonucleoprotein 70kDa (RNP Antigen) 2
  • SnRNP70 4
  • U170K 3
  • U1RNP 3
  • U1AP1 4
  • Snp1 3
  • U1AP 3

External Ids for SNRNP70 Gene

Previous HGNC Symbols for SNRNP70 Gene

  • RNPU1Z
  • RPU1
  • SNRP70

Previous GeneCards Identifiers for SNRNP70 Gene

  • GC19P054285
  • GC19P054287
  • GC19P049588
  • GC19P045964

Summaries for SNRNP70 Gene

GeneCards Summary for SNRNP70 Gene

SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70) is a Protein Coding gene. Diseases associated with SNRNP70 include Mixed Connective Tissue Disease and Systemic Scleroderma. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is SNRNP35.

UniProtKB/Swiss-Prot Summary for SNRNP70 Gene

  • Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome (PubMed:19325628, PubMed:25555158). SNRNP70 binds to the loop I region of U1-snRNA (PubMed:2467746, PubMed:19325628, PubMed:25555158).
  • Isoform 3: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.
  • Isoform 4: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.

Gene Wiki entry for SNRNP70 Gene

Additional gene information for SNRNP70 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNRNP70 Gene

Genomics for SNRNP70 Gene

GeneHancer (GH) Regulatory Elements for SNRNP70 Gene

Promoters and enhancers for SNRNP70 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNRNP70 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNRNP70 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for SNRNP70 Gene

Genomic Locations for SNRNP70 Gene
chr19:49,085,140-49,108,613
(GRCh38/hg38)
Size:
23,474 bases
Orientation:
Plus strand
chr19:49,588,465-49,611,870
(GRCh37/hg19)
Size:
23,406 bases
Orientation:
Plus strand

Genomic View for SNRNP70 Gene

Genes around SNRNP70 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRNP70 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRNP70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRNP70 Gene

Proteins for SNRNP70 Gene

  • Protein details for SNRNP70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08621-RU17_HUMAN
    Recommended name:
    U1 small nuclear ribonucleoprotein 70 kDa
    Protein Accession:
    P08621
    Secondary Accessions:
    • B3KUA3
    • P78493
    • P78494
    • Q15364
    • Q15686
    • Q15687
    • Q15689
    • Q99377
    • Q9UE45
    • Q9UE46
    • Q9UE47
    • Q9UE48
    • Q9UFQ6

    Protein attributes for SNRNP70 Gene

    Size:
    437 amino acids
    Molecular mass:
    51557 Da
    Quaternary structure:
    • Component of the U1 snRNP (PubMed:19325628, PubMed:21113136, PubMed:25555158). The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C (PubMed:19325628, PubMed:21113136, PubMed:25555158). Interacts with SCNM1 (By similarity). Found in a pre-mRNA splicing complex with SFRS4, SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2 (PubMed:9531537). Found in a pre-mRNA exonic splicing enhancer (ESE) complex with SNRNP70, SNRPA1, SRRM1 and TRA2B/SFRS10 (PubMed:10339552). Interacts with dephosphorylated SFRS13A and SFPQ (PubMed:11514619, PubMed:14765198). Interacts with NUDT21/CPSF5, CPSF6, SCAF11, and ZRANB2 (PubMed:14561889, PubMed:11448987, PubMed:9447963). Interacts with GEMIN5 (PubMed:25911097). Interacts with FUS.
    Miscellaneous:
    • Major ribonucleoprotein antigen recognized by the sera from patients with autoimmune diseases, such as systemic lupus erythematosus.
    SequenceCaution:
    • Sequence=CAA28352.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA29964.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA29966.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SNRNP70 Gene

    Alternative splice isoforms for SNRNP70 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRNP70 Gene

Post-translational modifications for SNRNP70 Gene

  • The N-terminus is blocked.
  • Extensively phosphorylated on serine residues in the C-terminal region.
  • Ubiquitination at Lys27, Lys87, Lys103, and Lys130
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNRNP70 Gene

Domains & Families for SNRNP70 Gene

Gene Families for SNRNP70 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SNRNP70 Gene

GenScript: Design optimal peptide antigens:
  • U1 small nuclear ribonucleoprotein 70 kDa (RU17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08621

UniProtKB/Swiss-Prot:

RU17_HUMAN :
  • The RRM domain mediates interaction with U1 RNA.
Domain:
  • The RRM domain mediates interaction with U1 RNA.
genes like me logo Genes that share domains with SNRNP70: view

Function for SNRNP70 Gene

Molecular function for SNRNP70 Gene

UniProtKB/Swiss-Prot Function:
Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome (PubMed:19325628, PubMed:25555158). SNRNP70 binds to the loop I region of U1-snRNA (PubMed:2467746, PubMed:19325628, PubMed:25555158).
UniProtKB/Swiss-Prot Function:
Isoform 3: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.
UniProtKB/Swiss-Prot Function:
Isoform 4: Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.

Phenotypes From GWAS Catalog for SNRNP70 Gene

Gene Ontology (GO) - Molecular Function for SNRNP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IMP 2467746
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 9447963
GO:0030619 U1 snRNA binding IDA 21113136
genes like me logo Genes that share ontologies with SNRNP70: view
genes like me logo Genes that share phenotypes with SNRNP70: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNRNP70 Gene

Localization for SNRNP70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRNP70 Gene

Nucleus speckle. Nucleus, nucleoplasm. Note=Colocalizes with SCNM1 and LUC7L2 in nuclear speckles. {ECO:0000250 UniProtKB:Q62376}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNRNP70 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNRNP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18559850
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9531537
GO:0005685 U1 snRNP IDA,IBA 21113136
GO:0016607 nuclear speck ISS --
genes like me logo Genes that share ontologies with SNRNP70: view

Pathways & Interactions for SNRNP70 Gene

genes like me logo Genes that share pathways with SNRNP70: view

Pathways by source for SNRNP70 Gene

1 BioSystems pathway for SNRNP70 Gene
1 KEGG pathway for SNRNP70 Gene

Gene Ontology (GO) - Biological Process for SNRNP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0043462 regulation of ATPase activity TAS 25719862
GO:0043484 regulation of RNA splicing IMP 2467746
GO:0048026 positive regulation of mRNA splicing, via spliceosome IEA --
genes like me logo Genes that share ontologies with SNRNP70: view

No data available for SIGNOR curated interactions for SNRNP70 Gene

Drugs & Compounds for SNRNP70 Gene

(1) Drugs for SNRNP70 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SNRNP70: view

Transcripts for SNRNP70 Gene

mRNA/cDNA for SNRNP70 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP70 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - -
SP7: -
SP8: - -
SP9: - -
SP10: -
SP11: - -
SP12: -
SP13:

ExUns: 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SNRNP70 Gene

GeneLoc Exon Structure for
SNRNP70
ECgene alternative splicing isoforms for
SNRNP70

Expression for SNRNP70 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNRNP70 Gene

Protein differential expression in normal tissues from HIPED for SNRNP70 Gene

This gene is overexpressed in Lymph node (13.4) and Peripheral blood mononuclear cells (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNRNP70 Gene



Protein tissue co-expression partners for SNRNP70 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNRNP70 Gene:

SNRNP70

SOURCE GeneReport for Unigene cluster for SNRNP70 Gene:

Hs.467097

Evidence on tissue expression from TISSUES for SNRNP70 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Skin(3.6)
  • Lung(3.4)
  • Kidney(3.1)
  • Intestine(2.9)
  • Blood(2.6)
  • Muscle(2.5)
  • Spleen(2.5)
  • Heart(2.4)
  • Eye(2.1)
  • Lymph node(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with SNRNP70: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNRNP70 Gene

Orthologs for SNRNP70 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRNP70 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNRNP70 33 32
  • 99.62 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNRNP70 33
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNRNP70 33 32
  • 91.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP70 33 32
  • 88.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrnp70 32
  • 88.01 (n)
mouse
(Mus musculus)
Mammalia Snrnp70 17 33 32
  • 85.52 (n)
oppossum
(Monodelphis domestica)
Mammalia SNRNP70 33
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP70 33
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397946 32
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8913 32
zebrafish
(Danio rerio)
Actinopterygii snrnp70 33
  • 57 (a)
OneToOne
wufc20b04 32
fruit fly
(Drosophila melanogaster)
Insecta snRNP-U1-70K 33
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rnp-7 33
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNP1 35 33
  • 27 (a)
rice
(Oryza sativa)
Liliopsida Os.4669 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10607 33
  • 41 (a)
OneToOne
Cin.649 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.649 32
Species where no ortholog for SNRNP70 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SNRNP70 Gene

ENSEMBL:
Gene Tree for SNRNP70 (if available)
TreeFam:
Gene Tree for SNRNP70 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNRNP70: view image

Paralogs for SNRNP70 Gene

Paralogs for SNRNP70 Gene

(8) SIMAP similar genes for SNRNP70 Gene using alignment to 3 proteins:

  • RU17_HUMAN
  • M0QX04_HUMAN
  • M0QYR1_HUMAN
genes like me logo Genes that share paralogs with SNRNP70: view

Variants for SNRNP70 Gene

Sequence variations from dbSNP and Humsavar for SNRNP70 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000085813 -- 49,104,040(+) A/C/T intron_variant
rs1000089452 -- 49,108,974(+) G/A downstream_transcript_variant
rs1000163515 -- 49,085,316(+) GGGG/GGGGG upstream_transcript_variant
rs1000199406 -- 49,090,912(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000295039 -- 49,094,348(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SNRNP70 Gene

Variant ID Type Subtype PubMed ID
dgv3619n100 CNV gain 25217958
dgv3620n100 CNV gain 25217958
dgv3621n100 CNV gain 25217958
nsv1071937 CNV deletion 25765185
nsv1112747 CNV deletion 24896259
nsv1134804 CNV deletion 24896259
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv953598 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for SNRNP70 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNRNP70 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRNP70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP70 Gene

Disorders for SNRNP70 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SNRNP70 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mixed connective tissue disease
  • connective tissue disease overlap syndrome
systemic scleroderma
  • scleroderma, familial progressive
connective tissue disease
  • connective tissue disorder
systemic lupus erythematosus
  • sle
collagen disease
  • collagen disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SNRNP70

genes like me logo Genes that share disorders with SNRNP70: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNRNP70 Gene

Publications for SNRNP70 Gene

  1. Association of polyadenylation cleavage factor I with U1 snRNP. (PMID: 14561889) Awasthi S … Alwine JC (RNA (New York, N.Y.) 2003) 3 4 23 56
  2. Nuclear relocalization of the pre-mRNA splicing factor PSF during apoptosis involves hyperphosphorylation, masking of antigenic epitopes, and changes in protein interactions. (PMID: 11514619) Shav-Tal Y … Zipori D (Molecular biology of the cell 2001) 3 4 23 56
  3. Identification of an snRNP-associated kinase activity that phosphorylates arginine/serine rich domains typical of splicing factors. (PMID: 8332490) Woppmann A … Lührmann R (Nucleic acids research 1993) 3 4 23 56
  4. Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3. (PMID: 2147422) Spritz RA … Mohrenweiser HW (Genomics 1990) 3 4 23 56
  5. FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP. (PMID: 26124092) Yu Y … Reed R (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4 56

Products for SNRNP70 Gene

Sources for SNRNP70 Gene