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    PRPF31 pre-mRNA processing factor 31 [ Homo sapiens (human) ]

    Gene ID: 26121, updated on 5-Nov-2017
    Official Symbol
    PRPF31provided by HGNC
    Official Full Name
    pre-mRNA processing factor 31provided by HGNC
    Primary source
    HGNC:HGNC:15446
    See related
    Ensembl:ENSG00000105618 MIM:606419; Vega:OTTHUMG00000066040
    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
    RP11; PRP31; SNRNP61; NY-BR-99
    Summary
    This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
    Expression
    Ubiquitous expression in spleen (RPKM 14.1), endometrium (RPKM 14.0) and 25 other tissues See more
    Orthologs
    Location:
    19q13.42
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (54115410..54131719)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54618790..54635150)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene osteoclast associated, immunoglobulin-like receptor Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 Neighboring gene uncharacterized LOC105372458 Neighboring gene TCF3 fusion partner Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene uncharacterized LOC102724273 Neighboring gene leukocyte receptor cluster member 1

    • 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?

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, pre-mRNA processing factor 31 homolog (PRPF31), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells 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, 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 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp566J153

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U4 snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U4atac snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribonucleoprotein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    snRNP binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    ribonucleoprotein complex localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT snoRNA localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spliceosomal tri-snRNP complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spliceosomal tri-snRNP complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U2-type spliceosomal complex IC
    Inferred by Curator
    more info
    PubMed 
    U4 snRNP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    U4atac snRNP TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    precatalytic spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    U4/U6 small nuclear ribonucleoprotein Prp31
    Names
    PRP31 pre-mRNA processing factor 31 homolog
    U4/U6 snRNP 61 kDa protein
    hPrp31
    protein 61K
    serologically defined breast cancer antigen NY-BR-99

    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_009759.1 RefSeqGene

      Range
      5001..21361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015629.3NP_056444.3  U4/U6 small nuclear ribonucleoprotein Prp31

      See identical proteins and their annotated locations for NP_056444.3

      Status: REVIEWED

      Source sequence(s)
      BC117389, CB854773, CN306666
      Consensus CDS
      CCDS12879.1
      UniProtKB/Swiss-Prot
      Q8WWY3
      Related
      ENSP00000324122.4, OTTHUMP00000068806, ENST00000321030.8, OTTHUMT00000141417
      Conserved Domains (2) summary
      pfam01798
      Location:99329
      Nop; snoRNA binding domain, fibrillarin
      pfam09785
      Location:337465
      Prp31_C; Prp31 C terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      54115410..54131719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723137.3XP_006723200.1  U4/U6 small nuclear ribonucleoprotein Prp31 isoform X1

      See identical proteins and their annotated locations for XP_006723200.1

      UniProtKB/Swiss-Prot
      Q8WWY3
      Conserved Domains (2) summary
      pfam01798
      Location:99329
      Nop; snoRNA binding domain, fibrillarin
      pfam09785
      Location:337465
      Prp31_C; Prp31 C terminal domain

    RNA

    1. XR_935789.2 RNA Sequence

      Related
      ENST00000466404.5

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p7 ALT_REF_LOCI_4

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p7 ALT_REF_LOCI_5

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p7 ALT_REF_LOCI_6

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p7 ALT_REF_LOCI_7

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p7 ALT_REF_LOCI_8

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p7 ALT_REF_LOCI_9

      Range
      89903..106263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      54620429..54636738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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