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Aliases for PRPF19 Gene

Aliases for PRPF19 Gene

  • Pre-MRNA Processing Factor 19 2 3 5
  • Nuclear Matrix Protein NMP200 Related To Splicing Factor PRP19 2 3
  • Nuclear Matrix Protein 200 3 4
  • Senescence Evasion Factor 3 4
  • PRP19/PSO4 Homolog 3 4
  • Psoralen 4 2 3
  • NMP200 3 4
  • HPSO4 3 4
  • PRP19 3 4
  • SNEV 3 4
  • PRP19/PSO4 Pre-MRNA Processing Factor 19 Homolog (S. Cerevisiae) 2
  • PRP19/PSO4 Pre-MRNA Processing Factor 19 Homolog 3
  • PRP19/PSO4 Homolog (S. Cerevisiae) 2
  • EC 6.3.2.- 4
  • UBOX4 3
  • PSO4 3

External Ids for PRPF19 Gene

Previous HGNC Symbols for PRPF19 Gene

  • PRP19

Previous GeneCards Identifiers for PRPF19 Gene

  • GC11M060415
  • GC11M060658
  • GC11M057004

Summaries for PRPF19 Gene

Entrez Gene Summary for PRPF19 Gene

  • PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]

GeneCards Summary for PRPF19 Gene

PRPF19 (Pre-MRNA Processing Factor 19) is a Protein Coding gene. Diseases associated with PRPF19 include Poikiloderma With Neutropenia. Among its related pathways are mRNA Splicing - Major Pathway and Transcription-Coupled Nucleotide Excision Repair (TC-NER). GO annotations related to this gene include identical protein binding and ubiquitin-protein transferase activity. An important paralog of this gene is PRPF4.

UniProtKB/Swiss-Prot for PRPF19 Gene

  • Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates Lys-63-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex (PubMed:20595234). Recruited to RNA polymerase II C-terminal domain (CTD) and the pre-mRNA, it may also couple the transcriptional and spliceosomal machineries (PubMed:21536736). The XAB2 complex, which contains PRPF19, is also involved in pre-mRNA splicing, transcription and transcription-coupled repair (PubMed:17981804). Beside its role in pre-mRNA splicing PRPF19, as part of the PRP19-CDC5L complex, plays a role in the DNA damage response/DDR. It is recruited to the sites of DNA damage by the RPA complex where PRPF19 directly ubiquitinates RPA1 and RPA2. Lys-63-linked polyubiquitination of the RPA complex allows the recruitment of the ATR-ATRIP complex and the activation of ATR, a master regulator of the DNA damage response (PubMed:24332808). May also play a role in DNA double-strand break (DSB) repair by recruiting the repair factor SETMAR to altered DNA (PubMed:18263876). As part of the PSO4 complex may also be involved in the DNA interstrand cross-links/ICLs repair process (PubMed:16223718). In addition, may also mediate Lys-48-linked polyubiquitination of substrates and play a role in proteasomal degradation (PubMed:11435423). May play a role in the biogenesis of lipid droplets (By similarity). May play a role in neural differentiation possibly through its function as part of the spliceosome (By similarity).

Gene Wiki entry for PRPF19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF19 Gene

Genomics for PRPF19 Gene

Regulatory Elements for PRPF19 Gene

Enhancers for PRPF19 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRPF19 on UCSC Golden Path with GeneCards custom track

Promoters for PRPF19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRPF19 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPF19 Gene

Chromosome:
11
Start:
60,890,547 bp from pter
End:
60,906,589 bp from pter
Size:
16,043 bases
Orientation:
Minus strand

Genomic View for PRPF19 Gene

Genes around PRPF19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF19 Gene

Proteins for PRPF19 Gene

  • Protein details for PRPF19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMS4-PRP19_HUMAN
    Recommended name:
    Pre-mRNA-processing factor 19
    Protein Accession:
    Q9UMS4

    Protein attributes for PRPF19 Gene

    Size:
    504 amino acids
    Molecular mass:
    55181 Da
    Quaternary structure:
    • Homotetramer. Component of the Prp19 complex/PRP19C/Nineteen complex/NTC and related complexes described as PRP19-CDC5L splicing complex and PSO4 complex. A homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2 constitute the core of those complexes. The interaction with CDC5L, PLRG1 and BCAS2 is direct within this core complex. At least three less stably associated proteins CTNNBL1, CWC15 and HSPA8 are found in the Prp19 complex. The Prp19 complex associates with the spliceosome during its assembly and remodeling recruiting additional proteins. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE. Interacts with CWC22 and EIF4A3 in an RNA-independent manner. Interacts with RPA1 and RPA2; the PRP19-CDC5L complex is recruited to the sites of DNA repair where it interacts with the replication protein A complex (RPA). Interacts with SETMAR; required for SETMAR recruitment to site of DNA damage. Interacts with U2AF2; the interaction is direct and recruits the Prp19 complex to RNA polymerase II C-terminal domain (CTD) and the pre-mRNA. Interacts with PRPF3. Interacts with APEX1, DNTT and PSMB4. Interacts with PSMC5 (By similarity). Interacts with KNSTRN (PubMed:24718257). Interacts (via N-terminus) with CDC5L (By similarity).

    Three dimensional structures from OCA and Proteopedia for PRPF19 Gene

neXtProt entry for PRPF19 Gene

Proteomics data for PRPF19 Gene at MOPED

Post-translational modifications for PRPF19 Gene

  • Ubiquitination at Lys 266 and Lys 428
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF19 Gene

No data available for DME Specific Peptides for PRPF19 Gene

Domains & Families for PRPF19 Gene

Suggested Antigen Peptide Sequences for PRPF19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMS4

UniProtKB/Swiss-Prot:

PRP19_HUMAN :
  • The 7 WD repeats are necessary and sufficient to support interaction with the RPA complex.
  • Belongs to the WD repeat PRP19 family.
  • Contains 7 WD repeats.
Domain:
  • The 7 WD repeats are necessary and sufficient to support interaction with the RPA complex.
  • Contains 1 U-box domain.
Family:
  • Belongs to the WD repeat PRP19 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with PRPF19: view

Function for PRPF19 Gene

Molecular function for PRPF19 Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates Lys-63-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex (PubMed:20595234). Recruited to RNA polymerase II C-terminal domain (CTD) and the pre-mRNA, it may also couple the transcriptional and spliceosomal machineries (PubMed:21536736). The XAB2 complex, which contains PRPF19, is also involved in pre-mRNA splicing, transcription and transcription-coupled repair (PubMed:17981804). Beside its role in pre-mRNA splicing PRPF19, as part of the PRP19-CDC5L complex, plays a role in the DNA damage response/DDR. It is recruited to the sites of DNA damage by the RPA complex where PRPF19 directly ubiquitinates RPA1 and RPA2. Lys-63-linked polyubiquitination of the RPA complex allows the recruitment of the ATR-ATRIP complex and the activation of ATR, a master regulator of the DNA damage response (PubMed:24332808). May also play a role in DNA double-strand break (DSB) repair by recruiting the repair factor SETMAR to altered DNA (PubMed:18263876). As part of the PSO4 complex may also be involved in the DNA interstrand cross-links/ICLs repair process (PubMed:16223718). In addition, may also mediate Lys-48-linked polyubiquitination of substrates and play a role in proteasomal degradation (PubMed:11435423). May play a role in the biogenesis of lipid droplets (By similarity). May play a role in neural differentiation possibly through its function as part of the spliceosome (By similarity).
UniProtKB/Swiss-Prot Induction:
By gamma irradiation and chemical mutagens but not by UV irradiation.

Enzyme Numbers (IUBMB) for PRPF19 Gene

Gene Ontology (GO) - Molecular Function for PRPF19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with PRPF19: view
genes like me logo Genes that share phenotypes with PRPF19: view

Animal Models for PRPF19 Gene

MGI Knock Outs for PRPF19:

Animal Model Products

CRISPR Products

miRNA for PRPF19 Gene

miRTarBase miRNAs that target PRPF19

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRPF19 Gene

Localization for PRPF19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF19 Gene

Nucleus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Lipid droplet. 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. Recruited on damaged DNA at sites of double-strand break. {ECO:0000269 PubMed:11082287, ECO:0000269 PubMed:18263876}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPF19 Gene COMPARTMENTS Subcellular localization image for PRPF19 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PRPF19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000974 Prp19 complex IDA 20176811
GO:0005662 colocalizes_with DNA replication factor A complex IDA 24332808
GO:0005819 spindle IEA --
GO:0016607 nuclear speck IDA 16332694
genes like me logo Genes that share ontologies with PRPF19: view

Pathways & Interactions for PRPF19 Gene

genes like me logo Genes that share pathways with PRPF19: view

UniProtKB/Swiss-Prot Q9UMS4-PRP19_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for PRPF19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000244 spliceosomal tri-snRNP complex assembly IDA 20595234
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining IMP 18263876
genes like me logo Genes that share ontologies with PRPF19: view

No data available for SIGNOR curated interactions for PRPF19 Gene

Drugs & Compounds for PRPF19 Gene

(3) Drugs for PRPF19 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for PRPF19 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with PRPF19: view

Transcripts for PRPF19 Gene

Unigene Clusters for PRPF19 Gene

PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF19 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17
SP1: - -
SP2: - - - - - -
SP3:
SP4:

Relevant External Links for PRPF19 Gene

GeneLoc Exon Structure for
PRPF19
ECgene alternative splicing isoforms for
PRPF19

Expression for PRPF19 Gene

mRNA expression in normal human tissues for PRPF19 Gene

Protein differential expression in normal tissues from HIPED for PRPF19 Gene

This gene is overexpressed in Lymph node (9.9) and Fetal ovary (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPF19 Gene



SOURCE GeneReport for Unigene cluster for PRPF19 Gene Hs.502705

mRNA Expression by UniProt/SwissProt for PRPF19 Gene

Q9UMS4-PRP19_HUMAN
Tissue specificity: Ubiquitous. Weakly expressed in senescent cells of different tissue origins. Highly expressed in tumor cell lines.
genes like me logo Genes that share expression patterns with PRPF19: view

Protein tissue co-expression partners for PRPF19 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PRPF19 Gene

Orthologs for PRPF19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF19 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRPF19 35
  • 91.4 (n)
  • 99.8 (a)
PRPF19 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF19 35
  • 92.06 (n)
  • 99.4 (a)
PRPF19 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpf19 35
  • 90.48 (n)
  • 99.4 (a)
Prpf19 16
Prpf19 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPF19 35
  • 99.54 (n)
  • 100 (a)
PRPF19 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prpf19 35
  • 90.87 (n)
  • 99.4 (a)
oppossum
(Monodelphis domestica)
Mammalia PRPF19 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF19 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRPF19 35
  • 83.57 (n)
  • 95.41 (a)
PRPF19 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPF19 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf19 35
  • 73.73 (n)
  • 85.42 (a)
Str.6233 35
African clawed frog
(Xenopus laevis)
Amphibia nmp200-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.3564 35
prp19 35
  • 75.13 (n)
  • 85.52 (a)
prp19 36
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8966 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007217 35
  • 65.06 (n)
  • 69.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prp19 35
  • 66.2 (n)
  • 67.47 (a)
Prp19 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prp-19 36
  • 52 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP4 36
  • 18 (a)
OneToMany
PRP19 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MAC3B 35
  • 51.54 (n)
  • 47.23 (a)
rice
(Oryza sativa)
Liliopsida Os10g0466300 35
  • 53.02 (n)
  • 46.23 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4434 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1663 36
  • 66 (a)
OneToOne
Species with no ortholog for PRPF19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRPF19 Gene

ENSEMBL:
Gene Tree for PRPF19 (if available)
TreeFam:
Gene Tree for PRPF19 (if available)

Paralogs for PRPF19 Gene

Paralogs for PRPF19 Gene

Pseudogenes.org Pseudogenes for PRPF19 Gene

genes like me logo Genes that share paralogs with PRPF19: view

Variants for PRPF19 Gene

Sequence variations from dbSNP and Humsavar for PRPF19 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs528741 -- 60,893,493(+) agcaa(A/G)actct intron-variant
rs540300 -- 60,905,973(-) tttcc(C/T)catct intron-variant
rs555113 -- 60,904,669(-) tatgc(A/T)cctct intron-variant
rs688638 -- 60,900,032(-) GCTTC(C/G)CAGTC intron-variant
rs1064529 -- 60,890,705(-) TCTGT(C/T)TGCAC utr-variant-3-prime

Variation tolerance for PRPF19 Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.61% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for PRPF19 Gene

Disorders for PRPF19 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRPF19 Gene - From: GeneCards

Disorder Aliases PubMed IDs
poikiloderma with neutropenia
  • clericuzio type poikiloderma with neutropenia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PRPF19

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPF19
genes like me logo Genes that share disorders with PRPF19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRPF19 Gene

Publications for PRPF19 Gene

  1. Role of human Pso4 in mammalian DNA repair and association with terminal deoxynucleotidyl transferase. (PMID: 12960389) Mahajan K.N. … Mitchell B.S. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 4 23 67
  2. Regulation of Metnase's TIR binding activity by its binding partner, Pso4. (PMID: 20416268) Beck B.D. … Lee S.H. (Arch. Biochem. Biophys. 2010) 3 23
  3. Early embryonic lethality of mice lacking the essential protein SNEV. (PMID: 17283042) Fortschegger K. … Grillari J. (Mol. Cell. Biol. 2007) 3 23
  4. The Pso4 mRNA splicing and DNA repair complex interacts with WRN for processing of DNA interstrand cross-links. (PMID: 16223718) Zhang N. … Legerski R.J. (J. Biol. Chem. 2005) 3 23
  5. hNMP 200: a novel human common nuclear matrix protein combining structural and regulatory functions. (PMID: 11082287) Gotzmann J. … Sauermann G. (Exp. Cell Res. 2000) 3 23

Products for PRPF19 Gene

Sources for PRPF19 Gene

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