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

    Gene ID: 10594, updated on 20-Apr-2017
    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; Vega:OTTHUMG00000090553
    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]
    Orthologs
    Location:
    17p13.3
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (1650629..1684882, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1553923..1588176, 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Retinitis pigmentosa 13 Compare labs

    NHGRI GWAS Catalog

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

    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

    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
      Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, 35S U5-snRNP, organism-specific biosystem (from KEGG)
      Spliceosome, 35S U5-snRNP, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, 35S U5-snRNP, conserved biosystem (from KEGG)
      Spliceosome, 35S U5-snRNP, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, U4/U6.U5 tri-snRNP, organism-specific biosystem (from KEGG)
      Spliceosome, U4/U6.U5 tri-snRNP, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, U4/U6.U5 tri-snRNP, conserved biosystem (from KEGG)
      Spliceosome, U4/U6.U5 tri-snRNP, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • mRNA Processing, organism-specific biosystem (from WikiPathways)
      mRNA Processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...
    • mRNA Splicing, organism-specific biosystem (from REACTOME)
      mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
    • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
    • mRNA Splicing - Minor Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Minor Pathway, organism-specific biosystemThe splicing of a subset of pre-mRNA introns occurs by a second pathway, designated the AT-AC or U12-dependent splicing pathway. AT-AC introns have highly conserved, non-canonical splice sites that ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    K63-linked polyubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U5 snRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    U6 snRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA splicing TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA splicing, via transesterification reactions TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    spliceosomal tri-snRNP complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U5 snRNP TAS
    Traceable Author Statement
    more info
    PubMed 
    catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5001..39254
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006445.3NP_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, OTTHUMP00000115657, ENST00000304992.10, OTTHUMT00000207079
      Conserved Domains (8) summary
      cd08056
      Location:20672317
      MPN_PRP8; Mpr1p, Pad1p N-terminal (MPN) domains without isopeptidase activity found in splicing factor Prp8
      COG5178
      Location:12335
      PRP8; U5 snRNP spliceosome subunit [RNA processing and modification]
      cd13838
      Location:17662016
      RNase_H_like_Prp8_IV; Ribonuclease-like Prp8 domain IV core
      pfam08082
      Location:58208
      PRO8NT; PRO8NT (NUC069), PrP8 N-terminal domain
      pfam08083
      Location:396796
      PROCN; PROCN (NUC071) domain
      pfam10596
      Location:14421600
      U6-snRNA_bdg; U6-snRNA interacting domain of PrP8
      pfam10597
      Location:12101342
      U5_2-snRNA_bdg; U5-snRNA binding site 2 of PrP8
      pfam10598
      Location:9861077
      RRM_4; RNA recognition motif of the spliceosomal PrP8

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      1650629..1684882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187611.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      80657..114910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      1562693..1596948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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