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Aliases for SNRNP70 Gene

Aliases for SNRNP70 Gene

  • Small Nuclear Ribonucleoprotein 70kDa (U1) 2 3
  • 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 70kDa (U1)) is a Protein Coding gene. Diseases associated with SNRNP70 include mixed connective tissue disease and facial hemiatrophy. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is SNRNP35.

UniProtKB/Swiss-Prot 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. SNRNP70 binds to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA

Gene Wiki entry for SNRNP70 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRNP70 Gene

Genomics for SNRNP70 Gene

Regulatory Elements for SNRNP70 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SNRNP70 Gene

Chromosome:
19
Start:
49,085,140 bp from pter
End:
49,108,613 bp from pter
Size:
23,474 bases
Orientation:
Plus strand

Genomic View for SNRNP70 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • U1 snRNP is composed of the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in an 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. Interacts with SCNM1. Found in a pre-mRNA splicing complex with SFRS4, SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2. Found in a pre-mRNA exonic splicing enhancer (ESE) complex with SNRNP70, SNRPA1, SRRM1 and TRA2B/SFRS10. Interacts with dephosphorylated SFRS13A and SFPQ. Interacts with NUDT21/CPSF5, CPSF6, SCAF11, and ZRANB2.
    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

Proteomics data for SNRNP70 Gene at MOPED

Post-translational modifications for SNRNP70 Gene

Other Protein References for SNRNP70 Gene

No data available for DME Specific Peptides for SNRNP70 Gene

Domains & Families for SNRNP70 Gene

Gene Families for SNRNP70 Gene

Protein Domains for SNRNP70 Gene

Suggested Antigen Peptide Sequences for SNRNP70 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08621

UniProtKB/Swiss-Prot:

RU17_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
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. SNRNP70 binds to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA

Gene Ontology (GO) - Molecular Function for SNRNP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IMP 2467746
GO:0003729 mRNA binding IBA --
GO:0005515 protein binding IPI 9447963
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNRNP70

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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. Nucleus speckle. Nucleus, nucleoplasm. Note=Colocalizes with SCNM1 and LUC7L2 in nuclear speckles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRNP70 Gene COMPARTMENTS Subcellular localization image for SNRNP70 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SNRNP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000243 commitment complex IBA --
GO:0005634 nucleus IDA 18559850
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IDA 9531537
GO:0005685 U1 snRNP IDA 21113136
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 TAS 3028775
GO:0008380 RNA splicing TAS --
GO:0010467 gene expression TAS --
GO:0043462 regulation of ATPase activity TAS 25719862
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
serine Nutra 420
genes like me logo Genes that share compounds with SNRNP70: view

Transcripts for SNRNP70 Gene

Unigene Clusters for SNRNP70 Gene

Small nuclear ribonucleoprotein 70kDa (U1):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNRNP70

Flow Cytometry 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 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, PaxDb, MOPED, and MaxQB for SNRNP70 Gene



SOURCE GeneReport for Unigene cluster for SNRNP70 Gene Hs.467097

genes like me logo Genes that share expression patterns with SNRNP70: view

Protein tissue co-expression partners for SNRNP70 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SNRNP70 35
  • 91.34 (n)
  • 98.62 (a)
SNRNP70 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP70 35
  • 88.66 (n)
  • 94.71 (a)
SNRNP70 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snrnp70 35
  • 85.52 (n)
  • 95.63 (a)
Snrnp70 16
Snrnp70 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNRNP70 35
  • 99.62 (n)
  • 100 (a)
SNRNP70 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrnp70 35
  • 88.01 (n)
  • 97.56 (a)
oppossum
(Monodelphis domestica)
Mammalia SNRNP70 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNRNP70 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP70 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8913 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397946 35
zebrafish
(Danio rerio)
Actinopterygii wufc20b04 35
snrnp70 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta snRNP-U1-70K 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rnp-7 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNP1 36
  • 27 (a)
OneToMany
SNP1 38
rice
(Oryza sativa)
Liliopsida Os.4669 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.649 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10607 36
  • 41 (a)
OneToOne
Species with no ortholog for SNRNP70:
  • 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)

Paralogs for SNRNP70 Gene

Paralogs for SNRNP70 Gene

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

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 Sequence Context AA Info Type MAF
rs734570 -- 49,103,192(+) GGTTT(C/T)TGAGG intron-variant, upstream-variant-2KB
rs753576 -- 49,087,524(-) TAAGC(C/T)CTCCA intron-variant
rs1058882 -- 49,108,062(+) CGTGG(C/T)GGCGG reference, synonymous-codon, utr-variant-5-prime
rs1058973 -- 49,108,345(+) AGGGT(C/T)TGGGC reference, synonymous-codon
rs1059034 -- 49,108,445(+) GTGAA(A/G)AGGTC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv833857 CNV Loss 17160897
dgv3970n71 CNV Loss 21882294
nsv833859 CNV Loss 17160897
nsv912252 CNV Loss 21882294
nsv912254 CNV Loss 21882294
nsv912255 CNV Loss 21882294
nsv912256 CNV Loss 21882294
nsv912258 CNV Loss 21882294
dgv3971n71 CNV Loss 21882294

Variation tolerance for SNRNP70 Gene

Residual Variation Intolerance Score: 35.84% 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)

Relevant External Links for SNRNP70 Gene

HapMap Linkage Disequilibrium report
SNRNP70

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

Disorders for SNRNP70 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SNRNP70 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
mixed connective tissue disease
  • connective tissue disease overlap syndrome
facial hemiatrophy
  • parry-romberg syndrome
systemic lupus erythematosus
  • lupus nephritis
- elite association

Relevant External Links for SNRNP70

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Crystal structure of human spliceosomal U1 snRNP at 5.5 A resolution. (PMID: 19325628) Pomeranz Krummel D.A. … Nagai K. (Nature 2009) 23 67
  2. A mechanism for incorporation of galectin-3 into the spliceosome through its association with U1 snRNP. (PMID: 19603745) Haudek K.C. … Patterson R.J. (Biochemistry 2009) 23 67
  3. Requirements for gene silencing mediated by U1 snRNA binding to a target sequence. (PMID: 18299285) Abad X. … Gunderson S.I. (Nucleic Acids Res. 2008) 23 67
  4. Analyses of in vivo interaction and mobility of two spliceosomal proteins using FRAP and BiFC. (PMID: 18414657) Ali G.S. … Reddy A.S. (PLoS ONE 2008) 23 67
  5. Spliceosomal peptide P140 for immunotherapy of systemic lupus erythematosus: results of an early phase II clinical trial. (PMID: 19035498) Muller S. … Zimmer R. (Arthritis Rheum. 2008) 23 67

Products for SNRNP70 Gene

Sources for SNRNP70 Gene

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