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

Gene ID: 10594, updated on 6-May-2021

Summary

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
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

See PRPF8 in Genome Data Viewer
Location:
17p13.3
Exon count:
43
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (1650629..1684880, complement)
105.20201022 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 Rab interacting lysosomal protein Neighboring gene TLC domain containing 2 Neighboring gene MIR22 host gene Neighboring gene microRNA 22

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
GeneReviews: Not available
Retinitis pigmentosa 13 Compare labs

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables U2 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables U5 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables U6 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables isopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
NOT enables metallopeptidase activity IKR
Inferred from Key Residues
more info
PubMed 
enables pre-mRNA intronic binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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 U5 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

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_006445.4NP_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
    Q6P2Q9
    Related
    ENSP00000304350.6, ENST00000304992.11
    Conserved Domains (1) summary
    COG5178
    Location:12335
    PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    1650629..1684880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    COG5178
    Location:12335
    PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    80657..114895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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