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

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

    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; 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

    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

    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
    Retinitis pigmentosa 13 Compare labs

    EBI GWAS Catalog

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

    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

    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 
    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

    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)

    NEW Try the new Transcript table

    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
      O14547, O75965, Q6P2Q9
      UniProtKB/TrEMBL
      A0A994J6E8
      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: 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_024450537.2XP_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:12335
      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_054329197.1XP_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_054314722.1XP_054170697.1  pre-mRNA-processing-splicing factor 8 isoform X1

      UniProtKB/Swiss-Prot
      O14547, O75965, Q6P2Q9