Human Gene PRPF19 (ENST00000227524.9_7) from GENCODE V47lift37
  Description: pre-mRNA processing factor 19 (from RefSeq NM_014502.5)
Gencode Transcript: ENST00000227524.9_7
Gencode Gene: ENSG00000110107.9_11
Transcript (Including UTRs)
   Position: hg19 chr11:60,658,019-60,674,057 Size: 16,039 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr11:60,658,638-60,673,854 Size: 15,217 Coding Exon Count: 16 

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 (chr11:60,658,019-60,674,057)mRNA (may differ from genome)Protein (504 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRP19_HUMAN
DESCRIPTION: RecName: Full=Pre-mRNA-processing factor 19; AltName: Full=Nuclear matrix protein 200; AltName: Full=PRP19/PSO4 homolog; Short=hPso4; AltName: Full=Senescence evasion factor;
FUNCTION: Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing.
SUBUNIT: Homooligomer. Identified in the spliceosome C complex. Component of the PSO4 complex, composed of PRPF19, CDC5L, PLRG1. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts in the complex directly with CDC5L, PLRG1 and BCAS2. Interacts with APEX1, DNTT and PSMB4.
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Nucleoplasmic in interphase cells. Irregularly distributed in anaphase cells. In prophase cells, uniformly distributed, but not associated with condensing chromosomes. Found in extrachromosomal regions in metaphase cells. Mainly localized to the mitotic spindle apparatus when chromosomes segregate during anaphase. When nuclei reform during late telophase, uniformly distributed in daughter cells and displays no preferred association with decondensing chromatin.
TISSUE SPECIFICITY: Ubiquitous. Weakly expressed in senescent cells of different tissue origins. Highly expressed in tumor cell lines.
INDUCTION: By gamma irradiation and chemical mutagens but not by UV irradiation.
SIMILARITY: Belongs to the WD repeat PRP19 family.
SIMILARITY: Contains 1 U-box domain.
SIMILARITY: Contains 7 WD repeats.

-  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: PRPF19
Diseases sorted by gene-association score: retinitis pigmentosa 19 (3), poikiloderma with neutropenia (2)

-  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: 75.97 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 2142.53 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 -92.10203-0.454 Picture PostScript Text
3' UTR -238.20619-0.385 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
IPR020472 - G-protein_beta_WD-40_rep
IPR013915 - Pre-mRNA_splic_Prp19
IPR000772 - Ricin_B_lectin
IPR003613 - Ubox_domain
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF04564 - U-box domain
PF08606 - Prp19/Pso4-like

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9UMS4
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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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0034450 ubiquitin-ubiquitin ligase activity
GO:0042802 identical protein binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0000209 protein polyubiquitination
GO:0000244 spliceosomal tri-snRNP complex assembly
GO:0000245 spliceosomal complex assembly
GO:0000349 generation of catalytic spliceosome for first transesterification step
GO:0000398 mRNA splicing, via spliceosome
GO:0001833 inner cell mass cell proliferation
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006397 mRNA processing
GO:0006974 cellular response to DNA damage stimulus
GO:0008380 RNA splicing
GO:0008610 lipid biosynthetic process
GO:0010498 proteasomal protein catabolic process
GO:0016567 protein ubiquitination
GO:0034613 cellular protein localization
GO:0045665 negative regulation of neuron differentiation
GO:0048026 positive regulation of mRNA splicing, via spliceosome
GO:0048711 positive regulation of astrocyte differentiation
GO:0070534 protein K63-linked ubiquitination
GO:0072422 signal transduction involved in DNA damage checkpoint

Cellular Component:
GO:0000974 Prp19 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0005811 lipid particle
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0035861 site of double-strand break
GO:0071006 U2-type catalytic step 1 spliceosome
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071013 catalytic step 2 spliceosome
GO:0005662 DNA replication factor A complex


-  Descriptions from all associated GenBank mRNAs
  AJ131186 - Homo sapiens mRNA for nuclear matrix protein NMP200.
BC008719 - Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae), mRNA (cDNA clone MGC:8654 IMAGE:2961655), complete cds.
BC018665 - Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae), mRNA (cDNA clone MGC:2545 IMAGE:2961655), complete cds.
BC018698 - Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae), mRNA (cDNA clone MGC:4240 IMAGE:2961655), complete cds.
LF342821 - JP 2014500723-A/150324: Polycomb-Associated Non-Coding RNAs.
JD454264 - Sequence 435288 from Patent EP1572962.
JD457606 - Sequence 438630 from Patent EP1572962.
LF342820 - JP 2014500723-A/150323: Polycomb-Associated Non-Coding RNAs.
JD111278 - Sequence 92302 from Patent EP1572962.
JD362837 - Sequence 343861 from Patent EP1572962.
DQ893003 - Synthetic construct clone IMAGE:100005633; FLH191590.01X; RZPDo839E1177D PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19) gene, encodes complete protein.
KJ893639 - Synthetic construct Homo sapiens clone ccsbBroadEn_03033 PRPF19 gene, encodes complete protein.
DQ896249 - Synthetic construct Homo sapiens clone IMAGE:100010709; FLH191586.01L; RZPDo839E1167D PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19) gene, encodes complete protein.
AB527521 - Synthetic construct DNA, clone: pF1KB5909, Homo sapiens PRPF19 gene for PRP19/PSO4 pre-mRNA processing factor 19 homolog, without stop codon, in Flexi system.
CU679057 - Synthetic construct Homo sapiens gateway clone IMAGE:100020293 5' read PRPF19 mRNA.
LF342819 - JP 2014500723-A/150322: Polycomb-Associated Non-Coding RNAs.
LF342818 - JP 2014500723-A/150321: Polycomb-Associated Non-Coding RNAs.
AF086469 - Homo sapiens full length insert cDNA clone ZD87A06.
JD256351 - Sequence 237375 from Patent EP1572962.
JD203322 - Sequence 184346 from Patent EP1572962.
JD519024 - Sequence 500048 from Patent EP1572962.
JD282838 - Sequence 263862 from Patent EP1572962.
JD396962 - Sequence 377986 from Patent EP1572962.
MA578398 - JP 2018138019-A/150324: Polycomb-Associated Non-Coding RNAs.
MA578397 - JP 2018138019-A/150323: Polycomb-Associated Non-Coding RNAs.
MA578396 - JP 2018138019-A/150322: Polycomb-Associated Non-Coding RNAs.
MA578395 - JP 2018138019-A/150321: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UMS4 (Reactome details) participates in the following event(s):

R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-6782004 Assembly of the pre-incision complex in TC-NER
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6
R-HSA-6782131 RNA Pol II backtracking in TC-NER
R-HSA-6782138 ERCC5 and RPA bind TC-NER site
R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site
R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER
R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER
R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER
R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER
R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-72172 mRNA Splicing
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73894 DNA Repair
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000227524.1, ENST00000227524.2, ENST00000227524.3, ENST00000227524.4, ENST00000227524.5, ENST00000227524.6, ENST00000227524.7, ENST00000227524.8, NMP200 , NM_014502, PRP19 , PRP19_HUMAN, PRPF19 , Q9UMS4, SNEV , uc317dmx.1, uc317dmx.2
UCSC ID: ENST00000227524.9_7
RefSeq Accession: NM_014502.5
Protein: Q9UMS4 (aka PRP19_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.