Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27339
Gene name	Pre-mRNA processing factor 19
Gene symbol	PRPF19
Synonyms (NCBI Gene)	NMP200PRP19PSO4SNEVUBOX4hPSO4
Chromosome	11
Chromosome location	11q12.2
Summary	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]

Show/Hide all (83)

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
MIRT1265327	hsa-miR-143	CLIP-seq
MIRT1265328	hsa-miR-1976	CLIP-seq
MIRT1265329	hsa-miR-203	CLIP-seq
MIRT1265330	hsa-miR-204	CLIP-seq
MIRT1265331	hsa-miR-211	CLIP-seq
MIRT1265332	hsa-miR-24	CLIP-seq
MIRT1265333	hsa-miR-27a	CLIP-seq
MIRT1265334	hsa-miR-27b	CLIP-seq
MIRT1265335	hsa-miR-28-3p	CLIP-seq
MIRT1265336	hsa-miR-3127-3p	CLIP-seq
MIRT1265337	hsa-miR-4284	CLIP-seq
MIRT1265338	hsa-miR-4290	CLIP-seq
MIRT1265339	hsa-miR-4667-3p	CLIP-seq
MIRT1265340	hsa-miR-4687-5p	CLIP-seq
MIRT1265341	hsa-miR-4708-5p	CLIP-seq
MIRT1265342	hsa-miR-4738-3p	CLIP-seq
MIRT1265343	hsa-miR-4755-5p	CLIP-seq
MIRT1265344	hsa-miR-4770	CLIP-seq
MIRT1265345	hsa-miR-4780	CLIP-seq
MIRT1265346	hsa-miR-513a-5p	CLIP-seq
MIRT1265347	hsa-miR-520d-5p	CLIP-seq
MIRT1265348	hsa-miR-524-5p	CLIP-seq
MIRT1265349	hsa-miR-623	CLIP-seq
MIRT1265350	hsa-miR-759	CLIP-seq
MIRT1265326	hsa-miR-128	CLIP-seq
MIRT1265328	hsa-miR-1976	CLIP-seq
MIRT1265330	hsa-miR-204	CLIP-seq
MIRT1265331	hsa-miR-211	CLIP-seq
MIRT1265332	hsa-miR-24	CLIP-seq
MIRT1265333	hsa-miR-27a	CLIP-seq
MIRT1265334	hsa-miR-27b	CLIP-seq
MIRT1265335	hsa-miR-28-3p	CLIP-seq
MIRT1265336	hsa-miR-3127-3p	CLIP-seq
MIRT1265337	hsa-miR-4284	CLIP-seq
MIRT1265338	hsa-miR-4290	CLIP-seq
MIRT2078020	hsa-miR-4641	CLIP-seq
MIRT1265339	hsa-miR-4667-3p	CLIP-seq
MIRT1265340	hsa-miR-4687-5p	CLIP-seq
MIRT2078021	hsa-miR-4722-3p	CLIP-seq
MIRT1265342	hsa-miR-4738-3p	CLIP-seq
MIRT1265343	hsa-miR-4755-5p	CLIP-seq
MIRT1265345	hsa-miR-4780	CLIP-seq
MIRT1265346	hsa-miR-513a-5p	CLIP-seq
MIRT1265347	hsa-miR-520d-5p	CLIP-seq
MIRT1265348	hsa-miR-524-5p	CLIP-seq
MIRT1265349	hsa-miR-623	CLIP-seq
MIRT2304512	hsa-miR-1224-3p	CLIP-seq
MIRT2304513	hsa-miR-1257	CLIP-seq
MIRT2304514	hsa-miR-1260	CLIP-seq
MIRT2304515	hsa-miR-1260b	CLIP-seq
MIRT1265326	hsa-miR-128	CLIP-seq
MIRT2304516	hsa-miR-1280	CLIP-seq
MIRT1265328	hsa-miR-1976	CLIP-seq
MIRT1265330	hsa-miR-204	CLIP-seq
MIRT1265331	hsa-miR-211	CLIP-seq
MIRT2304517	hsa-miR-2115	CLIP-seq
MIRT1265332	hsa-miR-24	CLIP-seq
MIRT1265333	hsa-miR-27a	CLIP-seq
MIRT1265334	hsa-miR-27b	CLIP-seq
MIRT1265336	hsa-miR-3127-3p	CLIP-seq
MIRT2304518	hsa-miR-3154	CLIP-seq
MIRT2304519	hsa-miR-3679-3p	CLIP-seq
MIRT2304520	hsa-miR-3689d	CLIP-seq
MIRT2304521	hsa-miR-4277	CLIP-seq
MIRT1265337	hsa-miR-4284	CLIP-seq
MIRT2304522	hsa-miR-4462	CLIP-seq
MIRT2078020	hsa-miR-4641	CLIP-seq
MIRT2304523	hsa-miR-4645-3p	CLIP-seq
MIRT2078021	hsa-miR-4722-3p	CLIP-seq
MIRT1265343	hsa-miR-4755-5p	CLIP-seq
MIRT1265345	hsa-miR-4780	CLIP-seq
MIRT2304524	hsa-miR-490-5p	CLIP-seq
MIRT1265346	hsa-miR-513a-5p	CLIP-seq
MIRT2304525	hsa-miR-542-3p	CLIP-seq
MIRT2304526	hsa-miR-584	CLIP-seq
MIRT2304527	hsa-miR-602	CLIP-seq
MIRT1265349	hsa-miR-623	CLIP-seq
MIRT2304528	hsa-miR-876-3p	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IMP	24332808
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:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	20176811
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	23742842
GO:0000974	Component	Prp19 complex	IBA
GO:0000974	Component	Prp19 complex	IDA	20176811
GO:0000974	Component	Prp19 complex	IEA
GO:0000974	Component	Prp19 complex	IPI	20176811
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	19188445, 19633697, 19641227, 20176811, 20467437, 20595234, 21536736, 22365833, 22569250, 22961380, 23022480, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	11435423, 19188445
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005662	Component	DNA replication factor A complex	IDA	24332808
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11435423
GO:0005737	Component	Cytoplasm	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	18263876
GO:0006397	Process	MRNA processing	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008104	Process	Intracellular protein localization	IMP	18263876
GO:0008380	Process	RNA splicing	IEA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IMP	17349974
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016607	Component	Nuclear speck	IDA	16332694, 24332808
GO:0016740	Function	Transferase activity	IEA
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IDA	11435423
GO:0035861	Component	Site of double-strand break	IDA	18263876
GO:0042802	Function	Identical protein binding	IPI	16332694
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	11435423
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	20595234
GO:0070534	Process	Protein K63-linked ubiquitination	IMP	20595234, 24332808
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IBA
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
608330	17896	ENSG00000110107

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

MSLICSISNEVPEHPCVSPVSNHVYERRLIEKYIAENGTDPINNQPLSEEQLIDIKVAHP
IRPKPPSATSIPAILKALQDEWDAVMLHSFTLRQQLQTTRQELSHALYQHDAACRVIARL
TKEVTAAREALATLKPQAGLIVPQAVPSSQPSVVGAGEPMDLGELVGMTPEIIQKLQDKA
TVLTTERKKRGKTVPEELVKPEELSKYRQVASHVGLHSASIPGILALDLCPSDTNKILTG
GADKNVVVFDKSSEQILATLKGHTKKVTSVVFHPSQDLVFSASPDATIRIWSVPNASCVQ
VVRAHESAVTGLSLHATGDYLLSSSDDQYWAFSDIQTGRVLTKVTDETSGCSLTCAQFHP
DGLIFGTGTMDSQIKIWDLKERTNVANFPGHSGPITSIAFSENGYYLATAADDSSVKLWD
LRKLKNFKTLQLDNNFEVKSLIFDQSGTYLALGGTDVQIYICKQWTEILHFTEHSGLTTG
VAFGHHAKFIASTGMDRSLKFYSL

Sequence length

504

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immune hydrops fetalis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24731397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22432035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22432035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	24443570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23220010, 24587161, 28387715, 36275676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37031206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37962958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32991787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23220010, 28387715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16388800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	22905093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24731397, 28387715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28122348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37929350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	26745502	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38022515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	LHGDN	16223718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	16223718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRPF19 (pre-mRNA processing factor 19)