PRPF19 pre-mRNA processing factor 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRPF19provided by HGNC
Official Full Name: pre-mRNA processing factor 19provided by HGNC
Primary source: HGNC:HGNC:17896
See related: Ensembl:ENSG00000110107 MIM:608330; AllianceGenome:HGNC:17896
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PSO4; SNEV; PRP19; UBOX4; hPSO4; NMP200
Summary: Enables identical protein binding activity and ubiquitin-ubiquitin ligase activity. Involved in several processes, including DNA damage checkpoint signaling; cellular protein metabolic process; and mRNA splicing, via spliceosome. Acts upstream of or within protein polyubiquitination. Located in cytoplasm; nuclear speck; and site of double-strand break. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. Colocalizes with DNA replication factor A complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 44.9), ovary (RPKM 35.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60890547..60906585, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60841704..60857730, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (60658019..60674057, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comprehensive analysis of PRPF19 immune infiltrates, DNA methylation, senescence-associated secretory phenotype and ceRNA network in bladder cancer.
Title: Comprehensive analysis of PRPF19 immune infiltrates, DNA methylation, senescence-associated secretory phenotype and ceRNA network in bladder cancer.
PRPF19 promotes the proliferation, migration, and inhibits autophagy in prostate cancer by suppressing SLC40A1.
Title: PRPF19 promotes the proliferation, migration, and inhibits autophagy in prostate cancer by suppressing SLC40A1.
PRP19 Enhances Esophageal Squamous Cell Carcinoma Progression by Reprogramming SREBF1-Dependent Fatty Acid Metabolism.
Title: PRP19 Enhances Esophageal Squamous Cell Carcinoma Progression by Reprogramming SREBF1-Dependent Fatty Acid Metabolism.
A distinct complex of PRP19-related and trypanosomatid-specific proteins is required for pre-mRNA splicing in trypanosomes.
Title: A distinct complex of PRP19-related and trypanosomatid-specific proteins is required for pre-mRNA splicing in trypanosomes.
A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
Title: A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3.
PRPF19 regulates p53-dependent cellular senescence by modulating alternative splicing of MDM4 mRNA.
Title: PRPF19 regulates p53-dependent cellular senescence by modulating alternative splicing of MDM4 mRNA.
PRPF19 promotes tongue cancer growth and chemoradiotherapy resistance.
Title: PRPF19 promotes tongue cancer growth and chemoradiotherapy resistance.
Formation of the nineteen complex core by stepwise assembly of SPF27, CDC5L, and PLRG1 onto the Prp19 tetramer enables ubiquitin ligation.
Title: Prp19/Pso4 Is an Autoinhibited Ubiquitin Ligase Activated by Stepwise Assembly of Three Splicing Factors.
This work implies that the gain of Prp19 is a critical event during the progression of hepatocellular carcinoma
Title: Prp19 facilitates invasion of hepatocellular carcinoma via p38 mitogen-activated protein kinase/twist1 pathway.
These results demonstrate that SNEV regulates adipogenesis in hASCs and indicate that DDR capacity in general might be a pre-requisite for this process.
Title: SNEV(hPrp19/hPso4) Regulates Adipogenesis of Human Adipose Stromal Cells.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, pre-mRNA processing factor 19 homolog (PRPF19), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PRPF19 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57748 (e-PCR)
- UniSTS:40484

RH124327 (e-PCR)
- UniSTS:161149

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-ubiquitin ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info
involved_in proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spliceosomal tri-snRNP complex assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	IDA Inferred from Direct Assay more info	PubMed
part_of Prp19 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Prp19 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Prp19 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of U2-type catalytic step 1 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of U2-type catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: pre-mRNA-processing factor 19

Names: 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 evasion factor

NP_055317.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014502.5 → NP_055317.1 pre-mRNA-processing factor 19

See identical proteins and their annotated locations for NP_055317.1

Status: VALIDATED

Source sequence(s)

AL555169, AP000777, AP003721, AW673738

Consensus CDS

CCDS7995.1

UniProtKB/Swiss-Prot

Q9UMS4

Related

ENSP00000227524.4, ENST00000227524.9

Conserved Domains (4) summary

cd00200
Location:223 → 503

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:224 → 262

7WD40; WD40 repeat [structural motif]

cd16656
Location:4 → 56

RING-Ubox_PRP19; U-box domain, a modified RING finger, found in pre-mRNA-processing factor 19 (Prp19) and similar proteins

pfam08606
Location:69 → 133

Prp19; Prp19/Pso4-like