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    PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) [ Homo sapiens ]

    Gene ID: 24148, updated on 11-May-2012
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    Summary

    Official Symbol
    PRPF6provided by HGNC
    Official Full Name
    PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:15860
    See related
    Ensembl:ENSG00000101161; HPRD:10729; MIM:613979; Vega:OTTHUMG00000033018
    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
    TOM; ANT1; Prp6; ANT-1; hPrp6; U5-102K; C20orf14
    Summary
    The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    20q13.33
    Sequence :
    Chromosome: 20; NC_000020.10 (62612431..62664453)
    See PRPF6 in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene UCKL1 antisense RNA 1 (non-protein coding) Neighboring gene zinc finger protein 512B Neighboring gene sterile alpha motif domain containing 10 Neighboring gene long intergenic non-protein coding RNA 176 Neighboring gene SRY (sex determining region Y)-box 18

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Tanackovic G, et al. Am J Hum Genet, 2011 May 13. PMID 21549338.
    4. Purification and identification of endogenous polySUMO conjugates. Bruderer R, et al. EMBO Rep, 2011 Feb. PMID 21252943.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Our results identify PRPF6 as the sixth gene involved in pre-mRNA splicing and dominant RP, corroborating the hypothesis that deficiencies in the spliceosome play an important role in the molecular pathology of this disease.
      Title: A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    3. The authors provide evidence that PRP6 and PRP31 are directly phosphorylated by human PRP4 kinase (PRP4K) concomitant with their incorporation into B complexes.
      Title: Human PRP4 kinase is required for stable tri-snRNP association during spliceosomal B complex formation.
    4. C20orf14 may have a role in progression of lymphoma
      Title: The expression and bioinformatic analysis of a novel gene C20orf14 associated with lymphoma.
    5. The interaction of CD2BP2 with a tri-snRNP bridging protein (Prp6), coupled with CD2BP2's absence from the tri-snRNP, suggests it might function in tri-snRNP assembly
      Title: The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation.
    6. identification as a coactivator for the androgen receptor [p102 U5 small nuclear ribonucleoprotein particle-binding protein]
      Title: Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor.
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Retinitis pigmentosa 60

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_036601.2 NP_001645.1 ARAF    BIND  PubMed A-Raf interacts with TOM. 
    BioGRID:117298 BioGRID:106862 AR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:117298 BioGRID:106864 ARAF    BioGRID  PubMed Two-hybrid 
    BioGRID:117298 BioGRID:115690 CD2BP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:117520 GIGYF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:121122 MEPCE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:114576 PRPF4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:117298 PRPF6    BioGRID  PubMed Two-hybrid 
    BioGRID:117298 BioGRID:228650 Prpf8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:111831 RAF1    BioGRID  PubMed Two-hybrid 
    BioGRID:117298 BioGRID:116125 RNPS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:117873 RNU11    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:117872 RNU12-2P    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:112479 SMARCA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117298 BioGRID:114805 SNRNP40    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:117298 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:112734 TADA2A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:115732 TIMM44    BioGRID  PubMed Two-hybrid 
    BioGRID:117298 BioGRID:120295 TXNL4B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:117298 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:115939 USP39    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117298 BioGRID:113361 YWHAB    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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
    • 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 ...
    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    androgen receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    ribonucleoprotein complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription coactivator activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    RNA splicing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    RNA splicing TAS
    Traceable Author Statement
    more info
    		  
    RNA splicing, via transesterification reactions NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    assembly of spliceosomal tri-snRNP IC
    Inferred by Curator
    more info
    		 PubMed 
    assembly of spliceosomal tri-snRNP IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    gene expression TAS
    Traceable Author Statement
    more info
    		  
    nuclear mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    nuclear mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    spliceosome assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    U4/U6 snRNP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    U4/U6 x U5 tri-snRNP complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    U5 snRNP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    spliceosomal complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    pre-mRNA-processing factor 6
    Names
    pre-mRNA-processing factor 6
    PRP6 homolog
    U5-102 kDa protein
    U5 snRNP-associated 102 kDa protein
    androgen receptor N-terminal domain transactivating protein-1
    androgen receptor N-terminal domain-transactivating protein 1
    putative mitochondrial outer membrane protein import receptor
    p102 U5 small nuclear ribonucleoprotein particle-binding protein
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    NCBI Reference Sequences (RefSeq)

    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_029719.1 RefSeqGene

      Range
      5001..57023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012469.3 → NP_036601.2  pre-mRNA-processing factor 6

      Status: REVIEWED

      Source sequence(s)
      AF221842, BP366197
      Consensus CDS
      CCDS13550.1
      UniProtKB/Swiss-Prot
      O94906
      Related
      ENSP00000266079, OTTHUMP00000031625, ENST00000266079, OTTHUMT00000080266
      Conserved Domains (4) summary
      cd00189
      Location:710 – 809
      Blast Score: 109
      TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
      TIGR02917
      Location:290 – 846
      Blast Score: 128
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      smart00386
      Location:444 – 476
      Blast Score: 88
      HAT; HAT (Half-A-TPR) repeats
      pfam06424
      Location:13 – 169
      Blast Score: 381
      PRP1_N; PRP1 splicing factor, N-terminal

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p5 Primary Assembly

      Range
      62612431..62664453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      59347184..59398551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL118506.27 CAI21906.1
    genomic AL355803.16 CAC16610.2
    genomic AL356790.22 CAH71582.1
    genomic CH471077.2 EAW75174.1
      EAW75175.1
      EAW75176.1
      EAW75177.1
      EAW75178.1
      EAW75179.1
    genomic CQ834642.1 CAH05536.1
    mRNA AB019219.1 BAA37140.1
    mRNA AF026031.1 AAD01798.1
    mRNA AF221842.1 AAF66128.1
    mRNA AK001554.1 BAG50938.1
    mRNA AK225993.1 None
    mRNA AK314310.1 BAG36962.1
    mRNA AL137320.1 CAB70695.1
    mRNA BC001666.2 AAH01666.1
    mRNA BI562505.1 None
    mRNA BP366197.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94906.1 GenPept UniProtKB/Swiss-Prot:O94906
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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