Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27339
Gene name Gene Name - the full gene name approved by the HGNC.
Pre-mRNA processing factor 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRPF19
Synonyms (NCBI Gene) Gene synonyms aliases
NMP200, PRP19, PSO4, SNEV, UBOX4, hPSO4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez 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]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051973 hsa-let-7b-5p CLASH 23622248
MIRT049927 hsa-miR-30a-5p CLASH 23622248
MIRT041329 hsa-miR-193b-3p CLASH 23622248
MIRT1265325 hsa-miR-1273f CLIP-seq
MIRT1265326 hsa-miR-128 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 11435423
GO:0000244 Process Spliceosomal tri-snRNP complex assembly IDA 20595234
GO:0000245 Process Spliceosomal complex assembly IMP 16332694
GO:0000349 Process Generation of catalytic spliceosome for first transesterification step IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608330 17896 ENSG00000110107
Protein
UniProt ID Q9UMS4
Protein 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)
Protein function Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Required for pre-mRNA splicing as component of the spliceosome (PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:2
PDB 4LG8 , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 7A5P , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0T , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04564 U-box 2 57 U-box domain Domain
PF08606 Prp19 67 134 Prp19/Pso4-like Domain
PF00400 WD40 254 292 WD domain, G-beta repeat Repeat
PF00400 WD40 296 329 WD domain, G-beta repeat Repeat
PF00400 WD40 338 378 WD domain, G-beta repeat Repeat
PF00400 WD40 382 420 WD domain, G-beta repeat Repeat
PF00400 WD40 465 503 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Weakly expressed in senescent cells of different tissue origins. Highly expressed in tumor cell lines. {ECO:0000269|PubMed:10404385, ECO:0000269|PubMed:11082287, ECO:0000269|PubMed:11435423, ECO:0000269|PubMed:12960389, ECO
Sequence
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome
Ubiquitin mediated proteolysis
  Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
mRNA Splicing - Major Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
21364753
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 22432035
Ataxia Telangiectasia Associate 24443570
Carcinoma Hepatocellular Associate 23220010, 24587161, 28387715, 36275676
Colorectal Neoplasms Associate 37031206
Developmental Disabilities Associate 37962958
Glioma Associate 32991787
Helicobacter Infections Stimulate 26745502
Mesothelioma Associate 22905093
Neoplasm Metastasis Associate 37031206
Neoplasms Associate 32991787, 38022515