• Gene id: 27339

Gene Summary

• Gene Symbol: PRPF19   Gene   UCSC   Ensembl
• Aliases: NMP200, PRP19, PSO4, SNEV, UBOX4, hPSO4
• Gene name: pre-mRNA processing factor 19
• Alternate names: pre-mRNA-processing factor 19, PRP19/PSO4 homolog, PRP19/PSO4 pre-mRNA processing factor 19 homolog, RING-type E3 ubiquitin transferase PRP19, nuclear matrix protein 200, nuclear matrix protein NMP200 related to splicing factor PRP19, psoralen 4, senescence evas,
• Gene location: 11q12.2 (60906584: 60890546)     Exons: 16     NC_000011.10
• Gene summary(Entrez): 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]
• OMIM: 608330

Protein Summary

• Protein general information: Q9UMS4  
  • Name: Pre mRNA processing factor 19 (EC 2.3.2.27) (Nuclear matrix protein 200) (PRP19/PSO4 homolog) (hPso4) (RING type E3 ubiquitin transferase PRP19) (Senescence evasion factor)
  • Length: 504  
  • Mass: 55181
  • Tissue specificity: Ubiquitous. Weakly expressed in senescent cells of different tissue origins. Highly expressed in tumor cell lines. {ECO
• Sequence:

  MSLICSISNEVPEHPCVSPVSNHVYERRLIEKYIAENGTDPINNQPLSEEQLIDIKVAHPIRPKPPSATSIPAIL
  KALQDEWDAVMLHSFTLRQQLQTTRQELSHALYQHDAACRVIARLTKEVTAAREALATLKPQAGLIVPQAVPSSQ
  PSVVGAGEPMDLGELVGMTPEIIQKLQDKATVLTTERKKRGKTVPEELVKPEELSKYRQVASHVGLHSASIPGIL
  ALDLCPSDTNKILTGGADKNVVVFDKSSEQILATLKGHTKKVTSVVFHPSQDLVFSASPDATIRIWSVPNASCVQ
  VVRAHESAVTGLSLHATGDYLLSSSDDQYWAFSDIQTGRVLTKVTDETSGCSLTCAQFHPDGLIFGTGTMDSQIK
  IWDLKERTNVANFPGHSGPITSIAFSENGYYLATAADDSSVKLWDLRKLKNFKTLQLDNNFEVKSLIFDQSGTYL
  ALGGTDVQIYICKQWTEILHFTEHSGLTTGVAFGHHAKFIASTGMDRSLKFYSL

• Structural information:
  • Protein Domains: (2..7-)
    (/note="U-box"-)
  • Interpro: IPR020472  IPR013915  IPR038959  IPR000772  IPR003613   IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  IPR013083  
  • Prosite: PS51698 PS00678 PS50082 PS50294
  • PDB: 4LG8 5MQF 5XJC 5YZG 5Z56 5Z57 6FF7 6ICZ 6ID0 6ID1 6QDV
  • PDBsum: 4LG8 5MQF 5XJC 5YZG 5Z56 5Z57 6FF7 6ICZ 6ID0 6ID1 6QDV
  • DIP: 32978
  • STRING: ENSP00000227524
• Other Databases: GeneCards:  PRPF19  Malacards:  PRPF19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000974	Prp19 complex	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0071006	U2-type catalytic step 1 spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0000349	generation of catalytic spliceosome for first transesterification step	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000974	Prp19 complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000244	spliceosomal tri-snRNP complex assembly	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0005662	DNA replication factor A complex	IDA	colocalizes with
GO:0016607	nuclear speck	IDA	cellular component
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0061630	ubiquitin protein ligase activity	IMP	molecular function
GO:0070534	protein K63-linked ubiquitination	IMP	biological process
GO:0010498	proteasomal protein catabolic process	IMP	biological process
GO:0070534	protein K63-linked ubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034613	cellular protein localization	IMP	biological process
GO:0072422	signal transduction involved in DNA damage checkpoint	IMP	biological process
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0000974	Prp19 complex	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0034450	ubiquitin-ubiquitin ligase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048026	positive regulation of mRNA splicing, via spliceosome	IEA	biological process
GO:0010498	proteasomal protein catabolic process	IEA	biological process
GO:0008610	lipid biosynthetic process	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001833	inner cell mass cell proliferation	IEA	biological process
GO:0048711	positive regulation of astrocyte differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0016607	nuclear speck	IDA	cellular component
GO:0000245	spliceosomal complex assembly	IMP	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R