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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UPF1 Gene

protein-coding   GIFtS: 60
GCID: GC19P018942

UPF1 regulator of nonsense transcripts homolog (yeast)

(Previous name: regulator of nonsense transcripts 1 )
(Previous symbol: RENT1)
 Explore 13 diseases affiliated with
UPF1 via our new
 Human Malady Compendium 
Biological research products
for UPF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
UPF1 Regulator Of Nonsense Transcripts Homolog (Yeast)1 2     ATP-Dependent Helicase RENT12 3
RENT11 2 3 5     Delta Helicase2
NORF11 2 3     Smg-2 Homolog, Nonsense Mediated MRNA Decay Factor2
HUPF11 2     UP Frameshift 12
PNORF11     Up-Frameshift Mutation 1 Homolog2
Regulator Of Nonsense Transcripts 11 2     Yeast Upf1p Homolog2
Smg-21     EC 3.6.4.-3
KIAA02211 3     HUpf11
Nonsense MRNA Reducing Factor 12 3     EC 3.6.18
Up-Frameshift Suppressor 1 Homolog2 3     

External Ids:    HGNC: 99621   Entrez Gene: 59762   Ensembl: ENSG000000050077   OMIM: 6014305   UniProtKB: Q929003   

Export aliases for UPF1 gene to outside databases

Previous GC identifers: GC19P018804 GC19P018507


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UPF1:
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export
and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates
nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD
to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation
ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of
multiple polyadenylation sites has been noted for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RENT1_HUMAN, Q92900
Function: RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature
stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and
dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled
ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In
EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides
downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex
which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to
provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve
as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of
NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC
indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of
phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation
of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The
ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability

Gene Wiki entry for UPF1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UPF1 gene promoter:
         Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UPF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UPF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2-p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.2-p13.11

UPF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018942:  view genomic region     (about GC identifiers)

Start:
18,942,744 bp from pter      End:
18,979,039 bp from pter
Size:
36,296 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RENT1_HUMAN, Q92900 (See protein sequence)
Recommended Name: Regulator of nonsense transcripts 1  
Size: 1129 amino acids; 124345 Da
Subunit: Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction complex
(EJC). Associates with the SGM1C complex; is phosphorylated by the complex kinase component SGM1. Interacts with UPF2,
UPF3A and UPF3B. Interacts with EST1A and SLBP. Interacts (when hyperphosphorylated) with PNRC2. Interacts with
EIF2C1, EIF2C2 and GSPT2. Interacts with isoform 1 and isoform 5 of ADAR/ADAR1
Subcellular location: Cytoplasm. Cytoplasm, P-body. Nucleus. Note=Hyperphosphorylated form is targeted to the P-body,
while unphosphorylated protein is distributed throughout the cytoplasm
Sequence caution: Sequence=BAA19664.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/8 PDB 3D structures from and Proteopedia for UPF1 (see all 8):
2GJK (3D)        2GK6 (3D)        2GK7 (3D)        2IYK (3D)        2WJV (3D)        2WJY (3D)    
Secondary accessions: O00239 O43343 Q86Z25 Q92842
Alternative splicing: 2 isoforms:  Q92900-1   Q92900-2   

Explore the universe of human proteins at neXtProt for UPF1: NX_Q92900

Post-translational modifications:

  • Phosphorylated by SMG1; required for formation of mRNA surveillance complexes1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92900

  • 4/17 DME Specific Peptides for UPF1 (Q92900) (see all 17)
     LVCAPSN  IILSCVR  EHQGIGF  YHKLLGH 

    UPF1 Protein expression data from MOPED and PaxDb:    About this image 
    UPF1 Protein Expression
    REFSEQ proteins: NP_002902.2  
    ENSEMBL proteins: 
     ENSP00000262803  
    Reactome Protein details: Q92900
    Human Recombinant Protein Products for UPF1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: UPF1
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    Novus Biologicals UPF1 Protein
    Novus Biologicals UPF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for UPF1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA16488880
    GO:0000932cytoplasmic mRNA processing body IEA--
    GO:0005634nucleus IDA18362360
    GO:0005737cytoplasm NAS9064659
    GO:0005829cytosol TAS--

    UPF1 for ontologies           About GeneDecksing



    UPF1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of UPF1
    R&D Systems Antibodies for UPF1 (RENT1/UPF1)
    Cell Signaling Technology (CST) Antibodies for UPF1  (RENT1)
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    Novus Biologicals UPF1 Antibodies
    Abcam antibodies for UPF1 
    Uscn Antibodies for UPF1
    ThermoFisher Antibodies for UPF1

    Assay Products for UPF1: 
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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for UPF1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    UPF1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR018999 RNA-helicase_UPF1_UPF2-interct

    Graphical View of Domain Structure for InterPro Entry Q92900

    ProtoNet protein and cluster: Q92900

    UniProtKB/Swiss-Prot: RENT1_HUMAN, Q92900
    Domain: The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family
    Similarity: Belongs to the DNA2/NAM7 helicase family
    Similarity: Contains 1 UPF1-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RENT1_HUMAN, Q92900
    Function: RNA-dependent helicase and ATPase required for nonsense-mediated decay (NMD) of mRNAs containing premature
    stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and
    dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled
    ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In
    EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides
    downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex
    which is believed to activate NMD. Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to
    provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve
    as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of
    NMD factors. UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC
    indicative for alternative NMD pathways. Plays a role in replication-dependent histone mRNA degradation at the end of
    phase S; the function is independent of UPF2. For the recognition of premature termination codons (PTC) and initiation
    of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. The
    ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD. Essential for embryonic viability

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IDA16488880
    GO:0003723RNA binding NAS10999600
    GO:0004004ATP-dependent RNA helicase activity IDA12554878
    GO:0004386helicase activity NAS9064659
         
    UPF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UPF1:
     Increased cell number in G2M,   Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Upf1):
     cellular  embryogenesis  mortality/aging  reproductive system 

    UPF1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Upf1tm1Hcd for UPF1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UPF1 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: UPF1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UPF1
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate UPF1 (see all 42):
    hsa-miR-3130-5p hsa-miR-4328 hsa-miR-128 hsa-miR-3138 hsa-miR-3921 hsa-miR-3916 hsa-miR-570 hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidUPF1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UPF1 (see all 4)
    OriGene shRNA RFP: UPF1
    OriGene siRNA: UPF1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against UPF1 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of UPF1 
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UPF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of PB1-F2
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.92
    Nonsense-Mediated Decay0.77
    SMG6 Cleaves mRNA with Premature Termination Codon0.80
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.77
    Phosphorylated UPF1 Recruits SMG5, SMG7, SMG6, and PP2A0.77
    2Metabolism of mRNA
    Metabolism of mRNA1.00
    Metabolism of RNA0.92
    3Decay of mRNA in SMG6:SMG5:SMG7:mRNA Complex
    Decay of mRNA in SMG6:SMG5:SMG7:mRNA Complex1.00
    4mRNA surveillance pathway
    mRNA surveillance pathway1.00
    5RNA transport
    RNA transport1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for UPF1
        Translational Control

    5/9        Reactome Pathways for UPF1 (see all 9)
        Nonsense Mediated Decay Independent of the Exon Junction Complex
    Decay of mRNA in SMG6:SMG5:SMG7:mRNA Complex
    Nonsense-Mediated Decay
    SMG6 Cleaves mRNA with Premature Termination Codon
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex


    2         Kegg Pathways  (Kegg details for UPF1):
        RNA transport
    mRNA surveillance pathway


    UPF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UPF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/952 Interacting proteins for UPF1 (Q929001, 2, 3 ENSP000002628034) via UniProtKB, MINT, STRING, and/or I2D (see all 952)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF2Q9HAU51, 2, 3, ENSP000003487084EBI-373471,EBI-372073 MINT-6539840 MINT-7904432 MINT-6539908 MINT-7904445 MINT-7945693 MINT-7904564 MINT-4791496 MINT-7904530 MINT-6539883 MINT-7904547 MINT-7904417 MINT-7904495 MINT-7904598 MINT-7947479 MINT-6539859 MINT-7904478 MINT-7904581 MINT-7904403 MINT-7904512 MINT-7904458 I2D: score=9 STRING: ENSP00000348708
    GSPT1P151702, 3, ENSP000003981314MINT-6539771 MINT-6539822 MINT-7945693 MINT-6539753 I2D: score=1 STRING: ENSP00000398131
    ETF1P624952, 3, ENSP000003537414MINT-7945693 MINT-6539753 MINT-7947479 I2D: score=3 STRING: ENSP00000353741
    TERTO147462, 3, ENSP000003095724MINT-8286561 MINT-8286551 MINT-8286579 I2D: score=1 STRING: ENSP00000309572
    PSMD12O002322, 3, ENSP000003484424MINT-7945693 MINT-7947479 I2D: score=5 STRING: ENSP00000348442
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006260DNA replication IMP16488880
    GO:0006281DNA repair IDA16488880
    GO:0006406mRNA export from nucleus TAS16488880
    GO:0006449regulation of translational termination NAS10999600

    UPF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UPF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UPF1
    4 Novoseek chemical compound relationships for UPF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitrobenzylthioinosine 73.2 2 9353301 (1), 11139404 (1)
    nucleoside 48.1 4 9353301 (1), 11463208 (1), 10428086 (1), 11139404 (1)
    uridine 47.4 4 11139404 (2), 9353301 (1)
    zinc 0 1 9064659 (1)

    Search CenterWatch for drugs/clinical trials and news about UPF1 / RENT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UPF1 gene: 
    NM_002911.3  

    Unigene Cluster for UPF1:

    UPF1 regulator of nonsense transcripts homolog (yeast)
    Hs.515266  [show with all ESTs]
    Unigene Representative Sequence: NM_002911
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000262803(uc002nkf.3 uc002nkg.3 uc002nkh.3)

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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate UPF1 (see all 42):
    hsa-miR-3130-5p hsa-miR-4328 hsa-miR-128 hsa-miR-3138 hsa-miR-3921 hsa-miR-3916 hsa-miR-570 hsa-miR-4274
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UPF1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UPF1

    Additional cDNA sequence: 

    AF074016.1 AK125797.1 AK128727.1 BC034291.1 BC039817.1 D86988.1 U59323.1 U65533.1 

    23 DOTS entries:

    DT.100822434  DT.456245  DT.97802108  DT.100801983  DT.92441421  DT.40289544  DT.121468677  DT.95190426 
    DT.100822424  DT.100822429  DT.100822431  DT.102828678  DT.121468685  DT.121468688  DT.121468701  DT.121468708 
    DT.121468718  DT.91947800  DT.91968174  DT.92441407  DT.97801452  DT.100822428  DT.92441406 

    24/431 AceView cDNA sequences (see all 431):

    D86988 BM742246 BG288234 BX384942 BU431219 BQ439866 BU727281 BQ271175 
    BM016503 AA412091 AK125797 AA705513 AW009890 BI050221 CA946823 BF508927 
    CD364377 BM764737 CR614589 AW272624 BQ950083 BM693677 NM_002911 AI569472 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for UPF1 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
    SP1:              -                 -     -     -     -                 -                                               -                                       
    SP2:              -                 -     -     -     -                 -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
    SP1:                    -           -                             -                                       
    SP2:                    -           -                             -                                       
    SP3:                                -                             -                                       
    SP4:                    -           -                                                                     
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for UPF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UPF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACCGGGTAG
    UPF1 Expression
    About this image
    See UPF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UPF1

    SOURCE GeneReport for Unigene cluster: Hs.515266

    UniProtKB/Swiss-Prot: RENT1_HUMAN, Q92900
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UPF1 gene from 9/37 species (see all 37)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upf11 , 5 UPF1 regulator of nonsense transcripts homolog (yeast)1, 5 88.92(n)1
    98.92(a)1
      8 (34.15 cM)5
    197041  NM_001122829.11  NP_001116301.11 
     703315225 
    chicken
    (Gallus gallus)
    Aves UPF11 UPF1 regulator of nonsense transcripts homolog (yeast) 81.08(n)
    97.87(a)
      420119  XM_418237.3  XP_418237.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.105472 Xenopus laevis transcribed sequence with strong similarity more 79.67(n)    BU914294.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.135942 Danio rerio mRNA similar to regulator of nonsense transcripts more 82.95(n)    BC045353.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Upf11 CG1559-PA 68.46(n)
    71.44(a)
      32153  NM_132539.2  NP_572767.1 
    worm
    (Caenorhabditis elegans)
    Secernentea smg-21 Protein SMG-2 54.6(n)
    52.86(a)
      171696  NM_058428.3  NP_490829.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NAM7(YMR080C)4
    NAM71
    ATP-dependent RNA helicase of the SFI superfamily involved more4
    Nam7p1
    53.86(n)1
    56.88(a)1
      13(429627-426712)4
    8551041, 4  NP_013797.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LBA11 Regulator of nonsense transcripts 1-like protein 58.41(n)
    63.94(a)
      834747  NM_124072.2  NP_199512.2 
    rice
    (Oryza sativa)
    Liliopsida Os.188372 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.8(n)    AK067729.1 


    ENSEMBL Gene Tree for UPF1 (if available)
    TreeFam Gene Tree for UPF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UPF1 gene
    ZNFX12  AQR2  C4orf212  

    UPF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/606 NCBI SNPs in UPF1 are shown (see all 606    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1996001581,2
    --18940921(+) ATTTC-/GGGGGG 1 -- us2k10--------
    rs1852443611,2
    --18941199(+) ACACCA/GCACCG 1 -- us2k10--------
    rs1897606851,2
    --18941312(+) TAATAC/TACACA 1 -- us2k10--------
    rs1820623521,2
    --18941338(+) TCTGTC/TACCCA 1 -- us2k10--------
    rs1157719961,2
    F--18941340(+) TGTCAC/TCCAGG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs801999401,2
    C,F--18941447(+) GGAAAG/AAGCCA 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1167062771,2
    C,F--18941459(+) CTTGCC/TCAGGC 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1439732301,2
    --18941586(+) TCCAGC/TTGTTT 1 -- us2k10--------
    rs1459736861,2
    --18941659(+) AGAGGC/TATCAG 1 -- us2k10--------
    rs1875699031,2
    --18941700(+) AGGCCC/TAGTAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UPF1 (18942744 - 18979039 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UPF1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UPF1 for disorders           About GeneDecksing

    OMIM gene information: 601430    OMIM disorders: --

    13 diseases for UPF1:    About MalaCards
    ullrich congenital muscular dystrophy    amyotrophic lateral sclerosis (als)    amyotrophic lateral sclerosis    congenital muscular dystrophy
    long qt syndrome    muscular dystrophy    lateral sclerosis    colon cancer
    gastric cancer    colorectal cancer    prostate cancer    prostatitis
    malaria

    1 disease from the University of Copenhagen DISEASES database for UPF1:
    Ullrich congenital muscular dystrophy

    Export disorders for UPF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UPF1 gene, integrated from 9 sources (see all 124):
    (articles sorted by number of sources associating them with UPF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. (PubMed id 9064659)1, 2, 3, 9 Applequist S.E.... Jaeck H.-M. (1997)
    2. Mammalian orthologues of a yeast regulator of nonsense transcript stability. (PubMed id 8855285)1, 2, 3, 9 Perlick H.A....Dietz H.C. (1996)
    3. Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. (PubMed id 12554878)1, 2, 9 Chiu S.-Y.... Maquat L.E. (2003)
    4. Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. (PubMed id 16452507)1, 2, 9 Kashima I....Ohno S. (2006)
    5. SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway. (PubMed id 15721257)1, 2, 9 Fukuhara N....Conti E. (2005)
    6. SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay. (PubMed id 19417104)1, 2, 9 Yamashita A....Ohno S. (2009)
    7. Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay. (PubMed id 10999600)1, 2, 9 Bhattacharya A....Peltz S.W. (2000)
    8. Human proline-rich nuclear receptor coregulatory protein 2 mediates an interaction between mRNA surveillance machinery and decapping complex. (PubMed id 19150429)1, 2, 9 Cho H.... Kim Y.K. (2009)
    9. Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1. (PubMed id 16086026)1, 2, 9 Kaygun H. and Marzluff W.F. (2005)
    10. Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein. (PubMed id 11331269)1, 2, 9 Denning G.... Fields A.P. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5976 HGNC: 9962 AceView: RENT1 Ensembl:ENSG00000005007 euGenes: HUgn5976
    ECgene: UPF1 Kegg: 5976 H-InvDB: UPF1

    (According to HUGE)
    About This Section
    HUGE: KIAA0221

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UPF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UPF1 gene:
    Search GeneIP for patents involving UPF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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