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SNRNP70 (small nuclear ribonucleoprotein U1 subunit 70)

Identity

Alias_namesRNPU1Z
RPU1
SNRP70
small nuclear ribonucleoprotein 70kDa (RNP antigen)
small nuclear ribonucleoprotein 70kDa (U1)
small nuclear ribonucleoprotein, U1 70kDa subunit
Alias_symbol (synonym)U1-70K
Snp1
Other aliasU170K
U1AP
U1RNP
HGNC (Hugo) SNRNP70
LocusID (NCBI) 6625
Atlas_Id 42344
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49085140 and ends at 49108613 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HDAC10 (22q13.33) / SNRNP70 (19q13.33)SNRNP70 (19q13.33) / GALT (9p13.3)SNRNP70 (19q13.33) / HDAC10 (22q13.33)
SNRNP70 (19q13.33) / IFNAR1 (21q22.11)SNRNP70 (19q13.33) / MRPL52 (14q11.2)SNRNP70 (19q13.33) / RABEP1 (17p13.2)
SNRNP70 (19q13.33) / SNRNP70 (19q13.33)SNRNP70 (19q13.33) / SYNPO2 (4q26)TRIM56 (7q22.1) / SNRNP70 (19q13.33)
SNRNP70 19q13.33 / RABEP1 17p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(17;19)(p13;q13) SNRNP70/RABEP1


External links

Nomenclature
HGNC (Hugo)SNRNP70   11150
Cards
Entrez_Gene (NCBI)SNRNP70  6625  small nuclear ribonucleoprotein U1 subunit 70
AliasesRNPU1Z; RPU1; SNRP70; Snp1; 
U1-70K; U170K; U1AP; U1RNP
GeneCards (Weizmann)SNRNP70
Ensembl hg19 (Hinxton)ENSG00000104852 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104852 [Gene_View]  ENSG00000104852 [Sequence]  chr19:49085140-49108613 [Contig_View]  SNRNP70 [Vega]
ICGC DataPortalENSG00000104852
TCGA cBioPortalSNRNP70
AceView (NCBI)SNRNP70
Genatlas (Paris)SNRNP70
WikiGenes6625
SOURCE (Princeton)SNRNP70
Genetics Home Reference (NIH)SNRNP70
Genomic and cartography
GoldenPath hg38 (UCSC)SNRNP70  -     chr19:49085140-49108613 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SNRNP70  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblSNRNP70 - 19q13.33 [CytoView hg19]  SNRNP70 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBISNRNP70 [Mapview hg19]  SNRNP70 [Mapview hg38]
OMIM180740   
Gene and transcription
Genbank (Entrez)AK027127 AK056808 AK096783 AK293120 AL117399
RefSeq transcript (Entrez)NM_001009820 NM_001301069 NM_003089
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SNRNP70
Cluster EST : UnigeneHs.467097 [ NCBI ]
CGAP (NCI)Hs.467097
Alternative Splicing GalleryENSG00000104852
Gene ExpressionSNRNP70 [ NCBI-GEO ]   SNRNP70 [ EBI - ARRAY_EXPRESS ]   SNRNP70 [ SEEK ]   SNRNP70 [ MEM ]
Gene Expression Viewer (FireBrowse)SNRNP70 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6625
GTEX Portal (Tissue expression)SNRNP70
Human Protein AtlasENSG00000104852-SNRNP70 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08621   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08621  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08621
Splice isoforms : SwissVarP08621
PhosPhoSitePlusP08621
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom    snRNP70_RRM    U1snRNP70_N   
Domain families : Pfam (Sanger)RRM_1 (PF00076)    U1snRNP70_N (PF12220)   
Domain families : Pfam (NCBI)pfam00076    pfam12220   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)SNRNP70
DMDM Disease mutations6625
Blocks (Seattle)SNRNP70
PDB (SRS)2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
PDB (PDBSum)2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
PDB (IMB)2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
PDB (RSDB)2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
Structural Biology KnowledgeBase2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
SCOP (Structural Classification of Proteins)2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
CATH (Classification of proteins structures)2L5I    2L5J    3CW1    3PGW    4PJO    4PKD   
SuperfamilyP08621
Human Protein Atlas [tissue]ENSG00000104852-SNRNP70 [tissue]
Peptide AtlasP08621
HPRD01617
IPIIPI00290204   IPI00219483   IPI00219484   IPI00219485   IPI01009655   
Protein Interaction databases
DIP (DOE-UCLA)P08621
IntAct (EBI)P08621
FunCoupENSG00000104852
BioGRIDSNRNP70
STRING (EMBL)SNRNP70
ZODIACSNRNP70
Ontologies - Pathways
QuickGOP08621
Ontology : AmiGOcommitment complex  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  U1 snRNP  U1 snRNP  cytoplasm  mRNA processing  RNA splicing  nuclear speck  snRNA binding  U1 snRNA binding  regulation of ATPase activity  regulation of RNA splicing  positive regulation of mRNA splicing, via spliceosome  negative regulation of protein refolding  U2-type prespliceosome  cellular response to retinoic acid  cellular response to tumor necrosis factor  cellular response to transforming growth factor beta stimulus  negative regulation of chaperone-mediated autophagy  U1 snRNP binding  
Ontology : EGO-EBIcommitment complex  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  spliceosomal complex  U1 snRNP  U1 snRNP  cytoplasm  mRNA processing  RNA splicing  nuclear speck  snRNA binding  U1 snRNA binding  regulation of ATPase activity  regulation of RNA splicing  positive regulation of mRNA splicing, via spliceosome  negative regulation of protein refolding  U2-type prespliceosome  cellular response to retinoic acid  cellular response to tumor necrosis factor  cellular response to transforming growth factor beta stimulus  negative regulation of chaperone-mediated autophagy  U1 snRNP binding  
Pathways : KEGGSpliceosome   
NDEx NetworkSNRNP70
Atlas of Cancer Signalling NetworkSNRNP70
Wikipedia pathwaysSNRNP70
Orthology - Evolution
OrthoDB6625
GeneTree (enSembl)ENSG00000104852
Phylogenetic Trees/Animal Genes : TreeFamSNRNP70
HOVERGENP08621
HOGENOMP08621
Homologs : HomoloGeneSNRNP70
Homology/Alignments : Family Browser (UCSC)SNRNP70
Gene fusions - Rearrangements
Fusion : MitelmanSNRNP70/RABEP1 [19q13.33/17p13.2]  
Fusion PortalSNRNP70 19q13.33 RABEP1 17p13.2 BRCA
Fusion : QuiverSNRNP70
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSNRNP70 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SNRNP70
dbVarSNRNP70
ClinVarSNRNP70
1000_GenomesSNRNP70 
Exome Variant ServerSNRNP70
ExAC (Exome Aggregation Consortium)ENSG00000104852
GNOMAD BrowserENSG00000104852
Varsome BrowserSNRNP70
Genetic variants : HAPMAP6625
Genomic Variants (DGV)SNRNP70 [DGVbeta]
DECIPHERSNRNP70 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSNRNP70 
Mutations
ICGC Data PortalSNRNP70 
TCGA Data PortalSNRNP70 
Broad Tumor PortalSNRNP70
OASIS PortalSNRNP70 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSNRNP70  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSNRNP70
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SNRNP70
DgiDB (Drug Gene Interaction Database)SNRNP70
DoCM (Curated mutations)SNRNP70 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SNRNP70 (select a term)
intoGenSNRNP70
Cancer3DSNRNP70(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180740   
Orphanet
DisGeNETSNRNP70
MedgenSNRNP70
Genetic Testing Registry SNRNP70
NextProtP08621 [Medical]
TSGene6625
GENETestsSNRNP70
Target ValidationSNRNP70
Huge Navigator SNRNP70 [HugePedia]
snp3D : Map Gene to Disease6625
BioCentury BCIQSNRNP70
ClinGenSNRNP70
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6625
Chemical/Pharm GKB GenePA35992
Clinical trialSNRNP70
Miscellaneous
canSAR (ICR)SNRNP70 (select the gene name)
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSNRNP70
EVEXSNRNP70
GoPubMedSNRNP70
iHOPSNRNP70
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Aug 27 11:53:58 CEST 2018

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