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    PRPF4 pre-mRNA processing factor 4 [ Homo sapiens (human) ]

    Gene ID: 9128, updated on 5-Sep-2021

    Summary

    Official Symbol
    PRPF4provided by HGNC
    Official Full Name
    pre-mRNA processing factor 4provided by HGNC
    Primary source
    HGNC:HGNC:17349
    See related
    Ensembl:ENSG00000136875 MIM:607795
    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
    PRP4; RP70; HPRP4; Prp4p; HPRP4P; SNRNP60
    Summary
    The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in appendix (RPKM 8.9), kidney (RPKM 8.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See PRPF4 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (113275658..113292905)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116037938..116055185)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987119 Neighboring gene solute carrier family 31 member 1 Neighboring gene cell division cycle 26 Neighboring gene ring finger protein 183 Neighboring gene WD repeat domain 31

    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?

    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 U4 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Cajal body 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 snRNP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    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 
    part_of spliceosomal complex IC
    Inferred by Curator
    more info
    PubMed 
    part_of spliceosomal complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of spliceosomal snRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    U4/U6 small nuclear ribonucleoprotein Prp4
    Names
    PRP4 homolog
    PRP4 pre-mRNA processing factor 4 homolog
    PRP4/STK/WD splicing factor
    U4/U6 snRNP 60 kDa protein
    WD splicing factor Prp4

    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_034225.1 RefSeqGene

      Range
      5001..22272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244926.2NP_001231855.1  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 2

      See identical proteins and their annotated locations for NP_001231855.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AW052006, BC001588, BC007424, CA420073, DA815191
      Consensus CDS
      CCDS59142.1
      UniProtKB/Swiss-Prot
      O43172
      UniProtKB/TrEMBL
      Q5T1M7
      Related
      ENSP00000363313.4, ENST00000374198.5
      Conserved Domains (3) summary
      smart00500
      Location:102140
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      cd00200
      Location:232518
      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:233270
      7WD40; WD40 repeat [structural motif]
    2. NM_001322266.2NP_001309195.1  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) and variant 4 both encode the same isoform (3).
      Source sequence(s)
      AL449305
      Conserved Domains (2) summary
      cd00200
      Location:8276
      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:4278
      7WD40; WD40 repeat [structural motif]
    3. NM_001322267.2NP_001309196.1  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) and variant 3 both encode the same isoform (3).
      Source sequence(s)
      AL449305
      Conserved Domains (2) summary
      cd00200
      Location:8276
      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:4278
      7WD40; WD40 repeat [structural motif]
    4. NM_004697.5NP_004688.2  U4/U6 small nuclear ribonucleoprotein Prp4 isoform 1

      See identical proteins and their annotated locations for NP_004688.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW052006, BC001588, CA420073, DA815191
      Consensus CDS
      CCDS6791.1
      UniProtKB/Swiss-Prot
      O43172
      Related
      ENSP00000363315.4, ENST00000374199.9
      Conserved Domains (3) summary
      smart00500
      Location:103141
      SFM; Splicing Factor Motif, present in Prp18 and Pr04
      cd00200
      Location:233519
      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:234271
      7WD40; WD40 repeat [structural motif]

    RNA

    1. NR_136265.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL449305
    2. NR_136266.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL449305

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      113275658..113292905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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