Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



UPF3B Gene

protein-coding   GIFtS: 57
GCID: GC0XM118967

UPF3 Regulator Of Nonsense Transcripts Homolog B (Yeast)

(Previous names: mental retardation, X-linked 62)
(Previous symbol: MRX62)
  See UPF3B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
UPF3 Regulator Of Nonsense Transcripts Homolog B (Yeast)1 2     UPF3X2 3
RENT3B2 3 5     hUpf3p-X2 3
MRX621 2     MRXS142 5
Mental Retardation, X-Linked 621 2     HUPF3B2
Nonsense MRNA Reducing Factor 3B2 3     Regulator Of Nonsense Transcripts 3B2
Up-Frameshift Suppressor 3 Homolog B2 3     hUpf3B3
Up-Frameshift Suppressor 3 Homolog On Chromosome X2 3     

External Ids:    HGNC: 204391   Entrez Gene: 651092   Ensembl: ENSG000001253517   OMIM: 3002985   UniProtKB: Q9BZI73   

Export aliases for UPF3B gene to outside databases

Previous GC identifers: GC0XM113785 GC0XM115953 GC0XM116943 GC0XM117722 GC0XM118749 GC0XM118852 GC0XM108461


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

TryGeneCards Plus

Entrez Gene summary for UPF3B Gene:
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear
export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting
as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of
exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for UPF3B Gene:
UPF3B (UPF3 regulator of nonsense transcripts homolog B (yeast)) is a protein-coding gene. Diseases associated with UPF3B include lujan syndrome, and mental retardation, x-linked. GO annotations related to this gene include nucleocytoplasmic transporter activity and nucleotide binding. An important paralog of this gene is UPF3A.

UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
Function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with
the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2
at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance
complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In
cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of
exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and
components of the EJC core

Gene Wiki entry for UPF3B Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UPF3B gene promoter:
         AhR   TBP   AML1a   C/EBPalpha   YY1   POU2F1   TFIID   POU2F1a   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPF3B promoter sequence
   Search Chromatin IP Primers for UPF3B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UPF3B


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

Entrez Gene cytogenetic band: Xq25-q26   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq25-q26

UPF3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPF3B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM118967:  view genomic region     (about GC identifiers)

Start:
118,967,985 bp from pter      End:
118,986,991 bp from pter
Size:
19,007 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7 (See protein sequence)
Recommended Name: Regulator of nonsense transcripts 3B  
Size: 483 amino acids; 57762 Da
Subunit: Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction
complex (EJC); the EJC core components EIF4A3 and the MAGOH-RBM8A dimer form a composite binding site for UPF3B
which overlaps with the EJC binding site for WIBG. Interacts with EST1A, UPF2 and RBM8A
2 PDB 3D structures from and Proteopedia for UPF3B:
1UW4 (3D)        2XB2 (3D)    
Secondary accessions: D3DWI3 D3DWI4 Q0VAK8 Q9H1J0
Alternative splicing: 2 isoforms:  Q9BZI7-1   Q9BZI7-2   

Explore the universe of human proteins at neXtProt for UPF3B: NX_Q9BZI7

Explore proteomics data for UPF3B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UPF3B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_075386.1  NP_542199.1  

    ENSEMBL proteins: 
     ENSP00000276201   ENSP00000245418  
    Reactome Protein details: Q9BZI7

    UPF3B Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for UPF3B
    OriGene Protein Over-expression Lysate for UPF3B
    OriGene MassSpec for UPF3B
    OriGene Custom Protein Services for UPF3B
    GenScript Custom Purified and Recombinant Proteins Services for UPF3B
    Novus Biologicals UPF3B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UPF3B

     
    Search eBioscience for Proteins for UPF3B 

     
    antibodies-online proteins for UPF3B 

     
    antibodies-online peptides for UPF3B

    UPF3B Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UPF3B
    Novus Biologicals UPF3B Antibodies
    Abcam antibodies for UPF3B
    Cloud-Clone Corp. Antibodies for UPF3B
    Search ThermoFisher Antibodies for UPF3B
    LSBio Antibodies in human, mouse, rat for UPF3B
    antibodies-online antibodies for UPF3B (8 products) 

    UPF3B Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UPF3B
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UPF3B
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UPF3B
    Cloud-Clone Corp. CLIAs for UPF3B
    Search eBioscience for ELISAs for UPF3B 
    antibodies-online kits for UPF3B (2 products) 


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR005120 Nonsense_mediated_decay_UPF3

    Graphical View of Domain Structure for InterPro Entry Q9BZI7

    ProtoNet protein and cluster: Q9BZI7

    UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
    Similarity: Belongs to the RENT3 family


    Find genes that share domains with UPF3B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: REN3B_HUMAN, Q9BZI7
    Function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with
    the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2
    at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance
    complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In
    cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of
    exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and
    components of the EJC core

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003729mRNA binding IDA11546873
    GO:0005487nucleocytoplasmic transporter activity NAS11163187
    GO:0005515protein binding IPI11163187
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with UPF3B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UPF3B:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UPF3B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UPF3B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UPF3B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UPF3B

    miRNA
    Products:
        
    miRTarBase miRNAs that target UPF3B:
    hsa-mir-26b-5p (MIRT029393)

    Block miRNA regulation of human, mouse, rat UPF3B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UPF3B (see all 16):
    hsa-miR-647 hsa-miR-4254 hsa-miR-1226 hsa-miR-146b-3p hsa-miR-769-5p hsa-miR-767-3p hsa-miR-634 hsa-miR-1197
    SwitchGear 3'UTR luciferase reporter plasmidUPF3B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UPF3B
    Predesigned siRNA for gene silencing in human, mouse, rat UPF3B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UPF3B

    Clone
    Products:
         
    OriGene clones in human, mouse for UPF3B (see all 12)
    OriGene ORF clones in mouse, rat for UPF3B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UPF3B (NM_080632)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UPF3B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UPF3B

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UPF3B
    Browse ESI BIO Cell Lines and PureStem Progenitors for UPF3B 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UPF3B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    REN3B_HUMAN, Q9BZI7: Nucleus. Cytoplasm. Note=Shuttling between the nucleus and the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11163187
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm NAS11163187
    GO:0005829cytosol TAS--
    GO:0035145colocalizes with exon-exon junction complex IDA11546873

    Find genes that share ontologies with UPF3B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for UPF3B About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    mRNA 3-end processing0.80
    Cleavage of Growing Transcript in the Termination Region0.80
    2mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93
    Transport of Mature Transcript to Cytoplasm0.93
    4Influenza Viral RNA Transcription and Replication
    Nonsense-Mediated Decay0.89
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    5Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60


    Find genes that share SuperPaths with UPF3B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 Reactome Pathways for UPF3B
        mRNA Splicing - Major Pathway
    Transport of Mature mRNA derived from an Intron-Containing Transcript
    Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
    mRNA 3'-end processing
    Cleavage of Growing Transcript in the Termination Region


    2 Kegg Pathways  (Kegg details for UPF3B):
        RNA transport
    mRNA surveillance pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UPF3B
    Interactions:

        GeneGlobe Interaction Network for UPF3B

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

    Selected Interacting proteins for UPF3B (Q9BZI71, 2, 3 ENSP000002762014) via UniProtKB, MINT, STRING, and/or I2D (see all 229)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF2Q9HAU51, 2, 3, ENSP000003487084EBI-372780,EBI-372073 MINT-51076 I2D: score=6 STRING: ENSP00000348708
    RBM8AQ9Y5S91, 2, 3, ENSP000003330014EBI-372780,EBI-447231 MINT-18282 I2D: score=3 STRING: ENSP00000333001
    UPF1Q929001, 3, ENSP000002628034EBI-372780,EBI-373471 I2D: score=2 STRING: ENSP00000262803
    EIF4A3P389191, 3, ENSP000002693494EBI-372780,EBI-299104 I2D: score=2 STRING: ENSP00000269349
    MCRS1Q96EZ83, ENSP000003496404I2D: score=4 STRING: ENSP00000349640
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006406mRNA export from nucleus TAS--

    Find genes that share ontologies with UPF3B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for UPF3B (REN3B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for UPF3B gene (2 alternative transcripts): 
    NM_023010.3  NM_080632.2  

    Unigene Cluster for UPF3B:

    UPF3 regulator of nonsense transcripts homolog B (yeast)
    Hs.103832  [show with all ESTs]
    Unigene Representative Sequence: NM_080632
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276201(uc004erz.2) ENST00000345865(uc004esa.2) ENST00000478840

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UPF3B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UPF3B (see all 16):
    hsa-miR-647 hsa-miR-4254 hsa-miR-1226 hsa-miR-146b-3p hsa-miR-769-5p hsa-miR-767-3p hsa-miR-634 hsa-miR-1197
    SwitchGear 3'UTR luciferase reporter plasmidUPF3B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UPF3B
    Predesigned siRNA for gene silencing in human, mouse, rat UPF3B
    Clone
    Products:
         
    OriGene clones in human, mouse for UPF3B (see all 12)
    OriGene ORF clones in mouse, rat for UPF3B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): UPF3B (NM_080632)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UPF3B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UPF3B
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for UPF3B
    OriGene qSTAR qPCR primer pairs in human, mouse for UPF3B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UPF3B
      QuantiTect SYBR Green Assays in human, mouse, rat UPF3B
      QuantiFast Probe-based Assays in human, mouse, rat UPF3B

    Additional mRNA sequence: 

    AF318576.1 AK093728.1 AY013251.1 BC008494.1 BC121017.1 BC121018.1 

    16 DOTS entries:

    DT.406540  DT.99942600  DT.91843562  DT.100805160  DT.75133378  DT.121304898  DT.92426348  DT.121304858 
    DT.121304911  DT.75147333  DT.92011871  DT.100711973  DT.121304901  DT.40268520  DT.91679866  DT.95370812 

    Selected AceView cDNA sequences (see all 119):

    BE791978 AY013251 AI811558 CA419898 BG696578 CB305573 CA429485 CB158716 
    AK093728 AI559512 BM988590 AI916713 CB157993 NM_080632 BQ439538 AF318576 
    AI684294 BX112720 AA714659 NM_023010 AW511806 AW590898 BM462872 AL711095 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    UPF3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTGAGTGC
    UPF3B Expression
    About this image


    UPF3B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    UPF3B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UPF3B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.103832

    UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
    Tissue specificity: Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta

        Custom PCR Arrays for UPF3B
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for UPF3B
    OriGene qSTAR qPCR primer pairs in human, mouse for UPF3B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UPF3B
    QuantiTect SYBR Green Assays in human, mouse, rat UPF3B
    QuantiFast Probe-based Assays in human, mouse, rat UPF3B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UPF3B

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for UPF3B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upf3b1 , 5 UPF3 regulator of nonsense transcripts homolog B (yeast)1, 5 86.67(n)1
    85.11(a)1
      X (21.51 cM)5
    681341  NM_026573.21  NP_080849.11 
     370916785 
    chicken
    (Gallus gallus)
    Aves UPF3B1 UPF3 regulator of nonsense transcripts homolog B (yeast) 72.07(n)
    71.49(a)
      100858231  XM_003641122.2  XP_003641170.1 
    lizard
    (Anolis carolinensis)
    Reptilia UPF3B6
    UPF3 regulator of nonsense transcripts homolog B (...
    66(a)
    1 ↔ 1
    GL343950.1(90705-99532)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.177082 Transcribed sequence with weak similarity to protein more 79.4(n)    AL855547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663902 similar to UPF3 regulator of nonsense transcripts homolog more 72.59(n)   393929  BC055632.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Upf36
    Upf3
    26(a)
    1 → many
    2R(19780589-19782510)
    worm
    (Caenorhabditis elegans)
    Secernentea smg-46
    Protein SMG-4, isoform b
    24(a)
    1 → many
    V(9775936-9777743) WBGene00004882


    ENSEMBL Gene Tree for UPF3B (if available)
    TreeFam Gene Tree for UPF3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for UPF3B gene
    UPF3A2  
    1 SIMAP similar gene for UPF3B using alignment to 3 protein entries:     REN3B_HUMAN (see all proteins):
    UPF3A

    Find genes that share paralogs with UPF3B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for UPF3B
    PGOHUM00000241517


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for UPF3B (see all 353)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0376664
    Mental retardation, X-linked, syndromic, 14 (MRXS14)4--see VAR_0376662 Y D mis40--------
    rs1224681811,2
    Cpathogenic1118965217(-) GAGATA/C/TGAATA 4 R * stg10--------
    rs1492584261,2
    --118960981(+) GGGGTC/TTTGCT 2 -- ds50010--------
    rs1839555831,2
    --118961078(+) CTCCCA/GAGTAG 2 -- ds50010--------
    rs120125751,2
    C,F,A,H--118961096(+) TACAGG/ATGCCC 2 -- ds50016Minor allele frequency- A:0.42NA WA CSA 12
    rs1389562071,2
    --118961232(+) CAGGCA/GTGAGC 2 -- ds50010--------
    rs1889510201,2
    --118961406(+) TCAGAC/TGTCAA 2 -- ds50010--------
    rs1905986471,2
    --118961418(+) AATTTA/CATTTC 2 -- ds50010--------
    rs24282061,2
    C,A--118961552(+) AGACAC/TTGGTG 2 -- ut31 ese30--------
    rs1463883391,2
    --118961599(+) TGAGAC/TCTAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for UPF3B (118967985 - 118986991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UPF3B:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2469e1CNV Complex17122850
    dgv2468e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): UPF3B
    Locus Specific Mutation Databases (LSDB): UPF3B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UPF3B
    DNA2.0 Custom Variant and Variant Library Synthesis for UPF3B

    (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

    TryGeneCards Plus
    OMIM gene information: 300298   
    OMIM disorders: 300676  
    UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
  • Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptive behavior and
    manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other
    variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate,
    high nasal bridge, and pectus deformities. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 4 diseases for UPF3B:    
    About MalaCards
    lujan syndrome    mental retardation, x-linked    mental retardation, x-linked 17/31, microduplication    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for UPF3B:
    Intellectual disability

    Find genes that share disorders with UPF3B           About GenesLikeMe


    Export disorders for UPF3B 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

    TryGeneCards Plus

    PubMed articles for UPF3B gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with UPF3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). (PubMed id 11113196)1, 2, 3, 9 Serin G.... Maquat L.E. (Mol. Cell. Biol. 2001)
    2. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. (PubMed id 11163187)1, 2, 3, 9 Lykke-Andersen J.... Steitz J.A. (Cell 2000)
    3. Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation. (PubMed id 16601204)1, 2, 9 Kunz J.B.... Gehring N.H. (RNA 2006)
    4. Y14 and hUpf3b form an NMD-activating complex. (PubMed id 12718880)1, 2, 9 Gehring N.H.... Kulozik A.E. (Mol. Cell 2003)
    5. NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity. (PubMed id 18066079)1, 2, 9 Chamieh H.... Le Hir H. (Nat. Struct. Mol. Biol. 2008)
    6. The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. (PubMed id 15004547)1, 2, 9 Kadlec J.... Cusack S. (Nat. Struct. Mol. Biol. 2004)
    7. 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. (RNA 2003)
    8. Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex. (PubMed id 20479275)1, 2 Buchwald G.... Conti E. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    9. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. (PubMed id 19238151)1, 3 Laumonnier F....Raynaud M. (Mol. Psychiatry 2010)
    10. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. (PubMed id 17704778)1, 2 Tarpey P.S.... Gecz J. (Nat. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 65109 HGNC: 20439 AceView: UPF3B Ensembl:ENSG00000125351 euGenes: HUgn65109
    ECgene: UPF3B Kegg: 65109 H-InvDB: UPF3B

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for UPF3B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for UPF3B gene:
    Search GeneIP for patents involving UPF3B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for UPF3B  
     OriGene qPCR primer pairs and template standards for UPF3B   OriGene Protein Over-expression Lysate for UPF3B  
     OriGene MassSpec for UPF3B   OriGene clones in human, mouse for UPF3B  
     OriGene qSTAR qPCR primer pairs in human, mouse for UPF3B   OriGene Purified Protein for UPF3B  
     OriGene ORF clones in mouse, rat for UPF3B   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for UPF3B   OriGene Custom Protein Services for UPF3B  

     
     
     Block miRNA regulation of human, mouse, rat UPF3B using miScript Target Protectors SeqTarget long-range PCR primers for resequencing UPF3B
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UPF3B Predesigned siRNA for gene silencing in human, mouse, rat UPF3B
     QuantiFast Probe-based Assays in human, mouse, rat UPF3B QuantiTect SYBR Green Assays in human, mouse, rat UPF3B
     Custom PCR Arrays for UPF3B Search Chromatin IP Primers for UPF3B
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UPF3B  GeneGlobe Interaction Network for UPF3B
     Regulatory tfbs in UPF3B promoter
     GenScript Custom Purified and Recombinant Proteins Services for UPF3B GenScript cDNA clones with any tag delivered in your preferred vector for UPF3B
     GenScript Custom Assay Services for UPF3B GenScript Custom overexpressing Cell Line Services for UPF3B
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for UPF3B (REN3B)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     UPF3B antibodies
     UPF3B lysates
     Antibodies for UPF3B
     See all of Abcam's Antibodies, Kits and Proteins for UPF3B
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for UPF3B
     Antibodies for UPF3B
     ELISAs for UPF3B
     CLIAs for UPF3B



     Browse ESI BIO Cell Lines and PureStem Progenitors for UPF3B
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UPF3B
     SwitchGear 3'UTR luciferase reporter plasmids for UPF3B
     SwitchGear Promoter luciferase reporter plasmids for UPF3B
     Search ThermoFisher Antibodies for UPF3B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UPF3B
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UPF3B
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UPF3B
     LSBio Antibodies in human, mouse, rat for UPF3B
     Browse compounds at ApexBio
     Search Addgene for plasmids for UPF3B
      Search eBioscience for proteins for UPF3B
      Search eBioscience for elisas for UPF3B
      eBioscience FlowRNA Probe Sets
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     antibodies-online antibodies for UPF3B (8 products)
     antibodies-online kits for UPF3B (2 products)
     antibodies-online peptides for UPF3B
     antibodies-online proteins for UPF3B
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      UPF3B gene at Home site.
    Version: 3.12.234 23 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4