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PRPF19 (pre-mRNA processing factor 19)

Identity

Alias_namesPRP19
PRP19/PSO4 homolog (S. cerevisiae)
PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)
Alias_symbol (synonym)UBOX4
NMP200
PSO4
hPSO4
Other aliasSNEV
HGNC (Hugo) PRPF19
LocusID (NCBI) 27339
Atlas_Id 41876
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 60658020 and ends at 60674061 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KMT2A (11q23.3) / PRPF19 (11q12.2)PRPF19 (11q12.2) / DDB1 (11q12.2)PRPF19 (11q12.2) / PRPF19 (11q12.2)
PRPF19 11q12.2 / DDB1 11q12.2

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

 


External links

Nomenclature
HGNC (Hugo)PRPF19   17896
Cards
Entrez_Gene (NCBI)PRPF19  27339  pre-mRNA processing factor 19
AliasesNMP200; PRP19; PSO4; SNEV; 
UBOX4; hPSO4
GeneCards (Weizmann)PRPF19
Ensembl hg19 (Hinxton)ENSG00000110107 [Gene_View]  chr11:60658020-60674061 [Contig_View]  PRPF19 [Vega]
Ensembl hg38 (Hinxton)ENSG00000110107 [Gene_View]  chr11:60658020-60674061 [Contig_View]  PRPF19 [Vega]
ICGC DataPortalENSG00000110107
TCGA cBioPortalPRPF19
AceView (NCBI)PRPF19
Genatlas (Paris)PRPF19
WikiGenes27339
SOURCE (Princeton)PRPF19
Genetics Home Reference (NIH)PRPF19
Genomic and cartography
GoldenPath hg19 (UCSC)PRPF19  -     chr11:60658020-60674061 -  11q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRPF19  -     11q12.2   [Description]    (hg38-Dec_2013)
EnsemblPRPF19 - 11q12.2 [CytoView hg19]  PRPF19 - 11q12.2 [CytoView hg38]
Mapping of homologs : NCBIPRPF19 [Mapview hg19]  PRPF19 [Mapview hg38]
OMIM608330   
Gene and transcription
Genbank (Entrez)AF086469 AJ131186 AL555169 AW673738 BC008719
RefSeq transcript (Entrez)NM_014502
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)PRPF19
Cluster EST : UnigeneHs.502705 [ NCBI ]
CGAP (NCI)Hs.502705
Alternative Splicing GalleryENSG00000110107
Gene ExpressionPRPF19 [ NCBI-GEO ]   PRPF19 [ EBI - ARRAY_EXPRESS ]   PRPF19 [ SEEK ]   PRPF19 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPF19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27339
GTEX Portal (Tissue expression)PRPF19
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMS4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UMS4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMS4
Splice isoforms : SwissVarQ9UMS4
PhosPhoSitePlusQ9UMS4
Domaine pattern : Prosite (Expaxy)U_BOX (PS51698)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    Pre-mRNA_splic_Prp19    Ricin_B_lectin    Ubox_domain    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Prp19 (PF08606)    U-box (PF04564)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08606    pfam04564    pfam00400   
Domain families : Smart (EMBL)Ubox (SM00504)  WD40 (SM00320)  
Conserved Domain (NCBI)PRPF19
DMDM Disease mutations27339
Blocks (Seattle)PRPF19
PDB (SRS)4LG8   
PDB (PDBSum)4LG8   
PDB (IMB)4LG8   
PDB (RSDB)4LG8   
Structural Biology KnowledgeBase4LG8   
SCOP (Structural Classification of Proteins)4LG8   
CATH (Classification of proteins structures)4LG8   
SuperfamilyQ9UMS4
Human Protein AtlasENSG00000110107
Peptide AtlasQ9UMS4
HPRD12214
IPIIPI00004968   IPI01014174   IPI01011787   IPI01011381   IPI01009194   
Protein Interaction databases
DIP (DOE-UCLA)Q9UMS4
IntAct (EBI)Q9UMS4
FunCoupENSG00000110107
BioGRIDPRPF19
STRING (EMBL)PRPF19
ZODIACPRPF19
Ontologies - Pathways
QuickGOQ9UMS4
Ontology : AmiGOprotein polyubiquitination  spliceosomal tri-snRNP complex assembly  spliceosomal complex assembly  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  Prp19 complex  inner cell mass cell proliferation  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA replication factor A complex  cytoplasm  lipid particle  spindle  transcription-coupled nucleotide-excision repair  double-strand break repair via nonhomologous end joining  lipid biosynthetic process  proteasomal protein catabolic process  membrane  nuclear speck  ligase activity  ubiquitin-ubiquitin ligase activity  cellular protein localization  site of double-strand break  identical protein binding  negative regulation of neuron differentiation  positive regulation of mRNA splicing, via spliceosome  positive regulation of astrocyte differentiation  ubiquitin protein ligase activity  ubiquitin protein ligase activity  protein K63-linked ubiquitination  catalytic step 2 spliceosome  signal transduction involved in DNA damage checkpoint  
Ontology : EGO-EBIprotein polyubiquitination  spliceosomal tri-snRNP complex assembly  spliceosomal complex assembly  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  Prp19 complex  inner cell mass cell proliferation  protein binding  nucleus  nucleoplasm  nucleoplasm  DNA replication factor A complex  cytoplasm  lipid particle  spindle  transcription-coupled nucleotide-excision repair  double-strand break repair via nonhomologous end joining  lipid biosynthetic process  proteasomal protein catabolic process  membrane  nuclear speck  ligase activity  ubiquitin-ubiquitin ligase activity  cellular protein localization  site of double-strand break  identical protein binding  negative regulation of neuron differentiation  positive regulation of mRNA splicing, via spliceosome  positive regulation of astrocyte differentiation  ubiquitin protein ligase activity  ubiquitin protein ligase activity  protein K63-linked ubiquitination  catalytic step 2 spliceosome  signal transduction involved in DNA damage checkpoint  
Pathways : KEGGSpliceosome    Ubiquitin mediated proteolysis   
NDEx NetworkPRPF19
Atlas of Cancer Signalling NetworkPRPF19
Wikipedia pathwaysPRPF19
Orthology - Evolution
OrthoDB27339
GeneTree (enSembl)ENSG00000110107
Phylogenetic Trees/Animal Genes : TreeFamPRPF19
HOVERGENQ9UMS4
HOGENOMQ9UMS4
Homologs : HomoloGenePRPF19
Homology/Alignments : Family Browser (UCSC)PRPF19
Gene fusions - Rearrangements
Fusion : MitelmanPRPF19/DDB1 [11q12.2/11q12.2]  
Fusion: TCGAPRPF19 11q12.2 DDB1 11q12.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPF19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPF19
dbVarPRPF19
ClinVarPRPF19
1000_GenomesPRPF19 
Exome Variant ServerPRPF19
ExAC (Exome Aggregation Consortium)PRPF19 (select the gene name)
Genetic variants : HAPMAP27339
Genomic Variants (DGV)PRPF19 [DGVbeta]
DECIPHER (Syndromes)11:60658020-60674061  ENSG00000110107
CONAN: Copy Number AnalysisPRPF19 
Mutations
ICGC Data PortalPRPF19 
TCGA Data PortalPRPF19 
Broad Tumor PortalPRPF19
OASIS PortalPRPF19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPF19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPF19
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 PRPF19
DgiDB (Drug Gene Interaction Database)PRPF19
DoCM (Curated mutations)PRPF19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPF19 (select a term)
intoGenPRPF19
Cancer3DPRPF19(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608330   
Orphanet
MedgenPRPF19
Genetic Testing Registry PRPF19
NextProtQ9UMS4 [Medical]
TSGene27339
GENETestsPRPF19
Huge Navigator PRPF19 [HugePedia]
snp3D : Map Gene to Disease27339
BioCentury BCIQPRPF19
ClinGenPRPF19
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27339
Chemical/Pharm GKB GenePA134941355
Clinical trialPRPF19
Miscellaneous
canSAR (ICR)PRPF19 (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPF19
EVEXPRPF19
GoPubMedPRPF19
iHOPPRPF19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:15:48 CEST 2017

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