Human Gene SNRNP70 (ENST00000221448.9_5) from GENCODE V47lift37
  Description: small nuclear ribonucleoprotein U1 subunit 70, transcript variant 2 (from RefSeq NM_001301069.2)
Gencode Transcript: ENST00000221448.9_5
Gencode Gene: ENSG00000104852.15_13
Transcript (Including UTRs)
   Position: hg19 chr19:49,588,708-49,611,820 Size: 23,113 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr19:49,589,672-49,611,700 Size: 22,029 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:49,588,708-49,611,820)mRNA (may differ from genome)Protein (428 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RU17_HUMAN
DESCRIPTION: RecName: Full=U1 small nuclear ribonucleoprotein 70 kDa; Short=U1 snRNP 70 kDa; Short=U1-70K; Short=snRNP70;
FUNCTION: Mediates the splicing of pre-mRNA by binding to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA.
SUBUNIT: Interacts with SCNM1 (By similarity). 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.
INTERACTION: P49760:CLK2; NbExp=2; IntAct=EBI-1049228, EBI-750020;
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle (By similarity). Nucleus, nucleoplasm (By similarity). Note=Colocalizes with SCNM1 and LUC7L2 in nuclear speckles (By similarity).
PTM: The N-terminus is blocked.
PTM: Extensively phosphorylated on serine residues in the C- terminal region.
MISCELLANEOUS: Major ribonucleoprotein antigen recognized by the sera from patients with autoimmune diseases, such as systemic lupus erythematosus.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.
SEQUENCE CAUTION: Sequence=CAA28352.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA29964.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA29966.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNRNP70
Diseases sorted by gene-association score: mixed connective tissue disease (13), systemic lupus erythematosus (7), systemic scleroderma (4), connective tissue disease (3), collagen disease (2), facial hemiatrophy (1), hypersensitivity reaction disease (1), limited scleroderma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 314.84 RPKM in Brain - Cerebellum
Total median expression: 6732.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -88.00196-0.449 Picture PostScript Text
3' UTR -27.60120-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom
IPR022023 - U1snRNP70_N

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF12220 - U1 small nuclear ribonucleoprotein of 70kDa MW N terminal
PF13893 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2L5I - NMR 2L5J - NMR 3CW1 - X-ray MuPIT 3PGW - X-ray


ModBase Predicted Comparative 3D Structure on P08621
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0030619 U1 snRNA binding
GO:1990446 U1 snRNP binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0043462 regulation of ATPase activity
GO:0043484 regulation of RNA splicing
GO:0048026 positive regulation of mRNA splicing, via spliceosome
GO:0061084 negative regulation of protein refolding
GO:0071300 cellular response to retinoic acid
GO:0071356 cellular response to tumor necrosis factor
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:1904715 negative regulation of chaperone-mediated autophagy

Cellular Component:
GO:0000243 commitment complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005685 U1 snRNP
GO:0005737 cytoplasm
GO:0016607 nuclear speck
GO:0071004 U2-type prespliceosome
GO:0071011 precatalytic spliceosome


-  Descriptions from all associated GenBank mRNAs
  AK293120 - Homo sapiens cDNA FLJ77404 complete cds, highly similar to Homo sapiens small nuclear ribonucleoprotein 70kDa polypeptide (RNP antigen) (SNRP70), transcript variant 1, mRNA.
X06817 - Human mRNA for hU1-70k snRNP protein (RNPH1, part 1).
AK096783 - Homo sapiens cDNA FLJ39464 fis, clone PROST2012140, highly similar to U1 SMALL NUCLEAR RIBONUCLEOPROTEIN 70 KDA.
BC001315 - Homo sapiens small nuclear ribonucleoprotein 70kDa (U1), mRNA (cDNA clone MGC:5527 IMAGE:3454479), complete cds.
X04654 - Human mRNA for U1 RNA-associated 70K protein.
M22636 - Human U1 small nuclear ribonucleoprotein 70 kd protein mRNA, complete cds.
X06815 - Human mRNA for hU1-70K small nuclear RNP protein (RNP FL1.7) (nonproductive).
JD468786 - Sequence 449810 from Patent EP1572962.
JD200329 - Sequence 181353 from Patent EP1572962.
X06813 - Human mRNA for hU1-70K snRNP protein (RNPW1, part 1).
JD458233 - Sequence 439257 from Patent EP1572962.
KJ897588 - Synthetic construct Homo sapiens clone ccsbBroadEn_06982 SNRNP70 gene, encodes complete protein.
AB463266 - Synthetic construct DNA, clone: pF1KB5169, Homo sapiens SNRP70 gene for small nuclear ribonucleoprotein 70kDa polypeptide, without stop codon, in Flexi system.
X84841 - H.sapiens mRNA for 68kDa (U1) ribonucleoprotein.
X06818 - Human mRNA for hU1-70K snRNP protein (RNPH2, part 1).
X06812 - Human mRNA for hU1-70K snRNP protein (RNP8).
X07401 - Human mRNA for hU1-70K snRNP protein (RNP6).
AL832819 - Homo sapiens mRNA; cDNA DKFZp667C0424 (from clone DKFZp667C0424).
AK056808 - Homo sapiens cDNA FLJ32246 fis, clone PROST1000097, highly similar to U1 SMALL NUCLEAR RIBONUCLEOPROTEIN 70 KDA.
AL117507 - Homo sapiens mRNA; cDNA DKFZp434F1935 (from clone DKFZp434F1935); partial cds.
AK027127 - Homo sapiens cDNA: FLJ23474 fis, clone HSI13633, highly similar to HSU170S6 Human mRNA for hU1-70K small nuclear RNP protein.
X06814 - Human mRNA for hU1-70K small nuclear RNP protein (RNP12).
AL117399 - Homo sapiens mRNA; cDNA DKFZp434N041 (from clone DKFZp434N041); partial cds.
AK092927 - Homo sapiens cDNA FLJ35608 fis, clone SPLEN2009803.
AX747810 - Sequence 1335 from Patent EP1308459.
BC000342 - Homo sapiens small nuclear ribonucleoprotein 70kDa (U1), mRNA (cDNA clone IMAGE:2822991), complete cds.
X06816 - Human mRNA for hU1-70K small nuclear RNP protein (RNP3).
X07402 - Human mRNA for hU1-70k snRNP protein (RNPH1, part 2).
X06811 - Human mRNA for U1-70K snRNP protein (RNP11).
X07403 - Human mRNA for hU1-70K snRNP protein (RNPH2, part 2).
JD446564 - Sequence 427588 from Patent EP1572962.
X06819 - Human mRNA for hU1-70K snRNP protein (RNPW1, part 2).
JD467503 - Sequence 448527 from Patent EP1572962.
JD157152 - Sequence 138176 from Patent EP1572962.
JD275891 - Sequence 256915 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_smPathway - Spliceosomal Assembly

Reactome (by CSHL, EBI, and GO)

Protein P08621 (Reactome details) participates in the following event(s):

R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B3KUA3, ENST00000221448.1, ENST00000221448.2, ENST00000221448.3, ENST00000221448.4, ENST00000221448.5, ENST00000221448.6, ENST00000221448.7, ENST00000221448.8, NM_001301069, P08621, P78493, P78494, Q15364, Q15686, Q15687, Q15689, Q99377, Q9UE45, Q9UE46, Q9UE47, Q9UE48, Q9UFQ6, RNPU1Z, RPU1, RU17_HUMAN, SNRP70, U1AP1, uc317dbd.1, uc317dbd.2
UCSC ID: ENST00000221448.9_5
RefSeq Accession: NM_001301069.2
Protein: P08621 (aka RU17_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.