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PRPF8 pre-mRNA processing factor 8 [ Homo sapiens (human) ]

Gene ID: 10594, updated on 7-Apr-2024

Summary

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Official Symbol
PRPF8provided by HGNC
Official Full Name
pre-mRNA processing factor 8provided by HGNC
Primary source
HGNC:HGNC:17340
See related
Ensembl:ENSG00000174231 MIM:607300; AllianceGenome:HGNC:17340
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRP8; RP13; HPRP8; PRPC8; SNRNP220
Summary
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 48.3), testis (RPKM 47.0) and 25 other tissues See more
Orthologs
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Genomic context

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See PRPF8 in Genome Data Viewer
Location:
17p13.3
Exon count:
43
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1650629..1684867, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1539419..1573935, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1553923..1588161, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene scavenger receptor class F member 1 Neighboring gene Sharpr-MPRA regulatory region 224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1554397-1554907 Neighboring gene Rab interacting lysosomal protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1593390-1593890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1593891-1594391 Neighboring gene TLC domain containing 2 Neighboring gene MIR22 host gene Neighboring gene microRNA 22

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. O'Grady L, et al. Am J Med Genet A, 2022 Sep. PMID 35543142
  2. The role of splicing factor PRPF8 in breast cancer. Cao D, et al. Technol Health Care, 2022. PMID 35124606, Free PMC Article
  3. Variants in the PRPF8 Gene are Associated with Glaucoma. Micheal S, et al. Mol Neurobiol, 2018 May. PMID 28707069, Free PMC Article
  4. Influenza A virus upregulates PRPF8 gene expression to increase virus production. Yang CH, et al. Arch Virol, 2017 May. PMID 28110426
  5. Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength. Wickramasinghe VO, et al. Genome Biol, 2015 Sep 21. PMID 26392272, Free PMC Article

See all (302) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs.
    Title: PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs.
  2. PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing.
    Title: PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing.
  3. Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.
    Title: Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.
  4. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
    Title: Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
  5. The role of splicing factor PRPF8 in breast cancer.
    Title: The role of splicing factor PRPF8 in breast cancer.
  6. How Is Precursor Messenger RNA Spliced by the Spliceosome?
    Title: How Is Precursor Messenger RNA Spliced by the Spliceosome?
  7. circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis.
    Title: circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis.
  8. The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
    Title: The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.
  9. Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
    Title: Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa.
  10. Knockdown of PRPF8 significantly impairs mitophagosome formation and subsequent mitochondrial clearance through the aberrant mRNA splicing of ULK1, which mediates macroautophagy/autophagy initiation.
    Title: Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.
Submit: New GeneRIF Correction See all GeneRIFs (37)

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

Associated conditions

Description Tests
Retinitis pigmentosa 13
MedGen: C1838702 OMIM: 600059 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
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EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of PRP8 pre-mRNA processing factor 8 homolog (PRPF8) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify PRP8 pre-Mrna processing factor 8 homolog (PRPF8), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into Staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Rev rev HIV-1 Rev interacting protein, pre-mRNA processing factor 8 homolog (PRPF8), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PRPF8 is increased by RRE PubMed
Tat tat Interaction of HIV-1 Tat with PRPF8 in T-cells is identified by a proteomic strategy based on affinity chromatography coupled with mass spectrometry PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding HDA PubMed 
enables U1 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables U2 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables U5 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables U6 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables metal-dependent deubiquitinase activity IKR
Inferred from Key Residues
more info
 PubMed 
NOT enables peptidase activity IKR
Inferred from Key Residues
more info
 PubMed 
enables pre-mRNA intronic binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA splicing TAS
Traceable Author Statement
more info
 PubMed 
involved_in RNA splicing, via transesterification reactions TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing TAS
Traceable Author Statement
more info
 PubMed 
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 spliceosomal tri-snRNP complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spliceosomal tri-snRNP complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of U2-type catalytic step 1 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2-type catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U4/U6 x U5 tri-snRNP complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U4/U6 x U5 tri-snRNP complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of U5 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
pre-mRNA-processing-splicing factor 8
Names
220 kDa U5 snRNP-specific protein
PRP8 homolog
PRP8 pre-mRNA processing factor 8 homolog
U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p
apoptosis-regulated protein 1
apoptosis-regulated protein 2
p220
precursor mRNA processing protein
splicing factor Prp8

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.

Genomic

  1. NG_009118.1 RefSeqGene

    Range
    5016..39254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006445.4 → NP_006436.3  pre-mRNA-processing-splicing factor 8

    See identical proteins and their annotated locations for NP_006436.3

    Status: REVIEWED

    Source sequence(s)
    BC064370, CD698473, DB081408
    Consensus CDS
    CCDS11010.1
    UniProtKB/Swiss-Prot
    O14547, O75965, Q6P2Q9
    UniProtKB/TrEMBL
    A0A994J6E8
    Related
    ENSP00000304350.6, ENST00000304992.11
    Conserved Domains (1) summary
    COG5178
    Location:1 → 2335
    PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1650629..1684867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450537.2 → XP_024306305.1  pre-mRNA-processing-splicing factor 8 isoform X1

    UniProtKB/Swiss-Prot
    O14547, O75965, Q6P2Q9
    UniProtKB/TrEMBL
    A0A994J6E8
    Conserved Domains (1) summary
    COG5178
    Location:1 → 2335
    PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    80657..115173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329197.1 → XP_054185172.1  pre-mRNA-processing-splicing factor 8 isoform X1

    UniProtKB/Swiss-Prot
    O14547, O75965, Q6P2Q9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1539419..1573935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314722.1 → XP_054170697.1  pre-mRNA-processing-splicing factor 8 isoform X1

    UniProtKB/Swiss-Prot
    O14547, O75965, Q6P2Q9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P2Q9.2 GenPept UniProtKB/Swiss-Prot:Q6P2Q9

Gene LinkOut

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