Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SMG6 Gene

protein-coding   GIFtS: 57
GCID: GC17M001963

SMG6 Nonsense Mediated MRNA Decay Factor

(Previous names: chromosome 17 open reading frame 31, smg-6 homolog, nonsense...)
(Previous symbol: C17orf31)
  See 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
SMG6 Nonsense Mediated MRNA Decay Factor1 2     EST1 Telomerase Component Homolog A2
C17orf311 2 3     hSMG5/7a2
EST1A2 3 5     Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor2
Ever Shorter Telomeres 1A2 3     Telomerase-Binding Protein EST1A2
Telomerase Subunit EST1A2 3     EC 3.1.-.-3
KIAA07323 5     EST1-Like Protein A3
Chromosome 17 Open Reading Frame 311     hSmg5/7a3
EST1 Telomerase Component Homolog A (S. Cerevisiae)1     Smg-6 Homolog3
Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans)1     EC 3.1.138
SMG-62     EC 3.1.2.158

External Ids:    HGNC: 178091   Entrez Gene: 232932   Ensembl: ENSG000000703667   OMIM: 6109635   UniProtKB: Q86US83   

Export aliases for SMG6 gene to outside databases

Previous GC identifers: GC17M001910 GC17M001916 GC17M001920 GC17M001924 GC17M001926 GC17M001929


(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 SMG6 Gene:
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and
maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD)
pathway, providing the endonuclease activity near the premature translation termination codon that is needed to
initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described.
(provided by RefSeq, Feb 2014)

GeneCards Summary for SMG6 Gene:
SMG6 (SMG6 nonsense mediated mRNA decay factor) is a protein-coding gene. Diseases associated with SMG6 include gigantism, and lissencephaly. GO annotations related to this gene include endoribonuclease activity and telomeric DNA binding. An important paralog of this gene is SMG5.

UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
Function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of
chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to
elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA
persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded
5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER)
Function: Plays a role in nonsense-mediated mRNA decay. Is thought to provide a link to the mRNA degradation
machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to
protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Degrades single-stranded RNA (ssRNA),
but not ssDNA or dsRNA

Gene Wiki entry for SMG6 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:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMG6 gene promoter:
         Tal-1beta   C/EBPalpha   GATA-1   E47   CHOP-10   AREB6   MZF-1   Cart-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMG6 promoter sequence
   Search Chromatin IP Primers for SMG6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMG6


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

SMG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMG6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M001963:  view genomic region     (about GC identifiers)

Start:
1,963,133 bp from pter      End:
2,207,069 bp from pter
Size:
243,937 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8 (See protein sequence)
Recommended Name: Telomerase-binding protein EST1A  
Size: 1419 amino acids; 160462 Da
Cofactor: Manganese
Subunit: May form homooligomers. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1,
WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with
TERT, independently of the telomerase RNA. Interacts with SMG1, SMG5, SMG7, UPF1, UPF2, UPF3B and the PP2A
catalytic subunits. Also interacts with the exon junction complex (EJC) composed at least of CASC3, EIF4A3, MAGOH
and RBM8A; required for the process of nonsense-mediated mRNA decay
Sequence caution: Sequence=AAH64916.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA34452.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SMG6:
2DOK (3D)        2HWW (3D)        2HWX (3D)    
Secondary accessions: B7Z874 O94837 Q86VH6 Q9UF60
Alternative splicing: 3 isoforms:  Q86US8-1   Q86US8-2   Q86US8-3   

Explore the universe of human proteins at neXtProt for SMG6: NX_Q86US8

Explore proteomics data for SMG6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for SMG6 (Q86US8)
     DTTRLEI  QLSSPED 


    See SMG6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243756.1  NP_001243757.1  NP_001269255.1  NP_060045.4  

    ENSEMBL proteins: 
     ENSP00000263073   ENSP00000346977   ENSP00000440283   ENSP00000460273   ENSP00000465793  
     ENSP00000466139   ENSP00000466951   ENSP00000459164   ENSP00000460898   ENSP00000458635  
     ENSP00000460191   ENSP00000460301   ENSP00000443920  
    Reactome Protein details: Q86US8

    SMG6 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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SMG6
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SMG6
    GenScript Custom Purified and Recombinant Proteins Services for SMG6
    Novus Biologicals SMG6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMG6

    SMG6 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 SMG6
    Novus Biologicals SMG6 Antibody
    Search for Antibodies for SMG6 at Abcam
    Cloud-Clone Corp. Antibodies for SMG6
    Search ThermoFisher Antibodies for SMG6
    Search LSBio for Antibodies for SMG6

    SMG6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMG6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SMG6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMG6
    Cloud-Clone Corp. CLIAs for SMG6


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

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR018834 DNA/RNA-bd_Est1-type
     IPR019458 EST1
     IPR002716 PIN_dom

    Graphical View of Domain Structure for InterPro Entry Q86US8

    ProtoNet protein and cluster: Q86US8

    1 Blocks protein domain: IPB006596 Nucleotide binding protein

    UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
    Domain: The PINc domain confers endonuclease activity and is expected to bind the catalytic metal ion
    Similarity: Contains 1 PINc domain


    SMG6 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EST1A_HUMAN, Q86US8
    Function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of
    chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to
    elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA
    persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded
    5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER)
    Function: Plays a role in nonsense-mediated mRNA decay. Is thought to provide a link to the mRNA degradation
    machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to
    protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Degrades single-stranded RNA (ssRNA),
    but not ssDNA or dsRNA

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.1.-.-1 EC 3.1.132

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004521endoribonuclease activity TAS--
    GO:0005515protein binding IPI12699629
    GO:0042162telomeric DNA binding IDA12699629
    GO:0046872metal ion binding IEA--
         
    SMG6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMG6:
     Decreased mitotic index 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Smg6):
     no phenotypic analysis 

    SMG6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMG6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMG6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMG6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMG6

    miRNA
    Products:
        
    miRTarBase miRNAs that target SMG6:
    hsa-mir-26b-5p (MIRT029580), hsa-mir-93-5p (MIRT048902), hsa-mir-185-5p (MIRT045363), hsa-mir-331-3p (MIRT043517)

    Block miRNA regulation of human, mouse, rat SMG6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMG6 (see all 44):
    hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-632 hsa-miR-759 hsa-miR-3150b-3p hsa-miR-296-5p hsa-miR-30b* hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMG6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMG6
    Predesigned siRNA for gene silencing in human, mouse, rat SMG6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMG6

    Clone
    Products:
         
    OriGene clones in human, mouse for SMG6 (see all 7)
    OriGene ORF clones in mouse, rat for SMG6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SMG6 (NM_017575)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMG6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMG6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMG6
    Browse ESI BIO Cell Lines and PureStem Progenitors for SMG6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMG6


    (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
    EST1A_HUMAN, Q86US8: Nucleus, nucleolus. Chromosome, telomere (Probable). Cytoplasm, cytosol. Note=Particularly
    enriched in the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IEA--
    GO:0005634nucleus IDA14636577
    GO:0005697telomerase holoenzyme complex TAS12699629
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SMG6 for ontologies           About GeneDecksing


    (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 SMG6 About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza Viral RNA Transcription and Replication
    Nonsense-Mediated Decay0.89
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    2Gene Expression
    Gene Expression0.40
    3Regulation of Telomerase
    Regulation of Telomerase
    4mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SMG6
        Regulation of Telomerase

    1 Reactome Pathway for SMG6
        Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)


    1 Kegg Pathway  (Kegg details for SMG6):
        mRNA surveillance pathway


    SMG6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SMG6: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SMG6

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

    Selected Interacting proteins for SMG6 (Q86US81, 3 ENSP000002630734) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q92900-21, ENSP000002628034EBI-3232100,EBI-373492 I2D: score=1 STRING: ENSP00000262803
    SMG5Q9UPR33, ENSP000003552614I2D: score=1 STRING: ENSP00000355261
    TERTO147463, ENSP000003095724I2D: score=1 STRING: ENSP00000309572
    NLKQ9UBE83I2D: score=3 
    KBTBD7Q8WVZ93I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS16488880
    GO:0000723telomere maintenance IMP12699629
    GO:0006406mRNA export from nucleus TAS16488880
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--

    SMG6 for ontologies           About GeneDecksing



    (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 SMG6 (EST1A)

    1 HMDB Compound for SMG6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SMG6 gene (5 alternative transcripts): 
    NM_001256827.1  NM_001256828.1  NM_001282326.1  NM_017575.4  NM_001170957.1  

    Unigene Cluster for SMG6:

    Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
    Hs.448342  [show with all ESTs]
    Unigene Representative Sequence: AB018275
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000574501(uc021tno.1) ENST00000263073(uc002fub.1) ENST00000573166
    ENST00000354901 ENST00000570756 ENST00000576218 ENST00000536871 ENST00000573153
    ENST00000573827 ENST00000575454 ENST00000575338 ENST00000570874 ENST00000572369
    ENST00000575176 ENST00000572205 ENST00000571442 ENST00000570659 ENST00000575663

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SMG6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMG6 (see all 44):
    hsa-miR-3130-5p hsa-miR-3194-5p hsa-miR-632 hsa-miR-759 hsa-miR-3150b-3p hsa-miR-296-5p hsa-miR-30b* hsa-miR-3622a-5p
    SwitchGear 3'UTR luciferase reporter plasmidSMG6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SMG6
    Predesigned siRNA for gene silencing in human, mouse, rat SMG6
    Clone
    Products:
         
    OriGene clones in human, mouse for SMG6 (see all 7)
    OriGene ORF clones in mouse, rat for SMG6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SMG6 (NM_017575)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMG6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMG6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SMG6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMG6
      QuantiTect SYBR Green Assays in human, mouse, rat SMG6
      QuantiFast Probe-based Assays in human, mouse, rat SMG6

    Additional mRNA sequence: 

    AB018275.2 AK074270.1 AK093007.1 AK302964.1 AL080204.1 AL133597.1 AY145883.1 AY168921.1 
    BC064916.1 NR_046385.2 

    14 DOTS entries:

    DT.91729366  DT.101967794  DT.95138038  DT.91964190  DT.100804266  DT.100804262  DT.100697919  DT.100804267 
    DT.100716274  DT.102839574  DT.40233768  DT.75125399  DT.75122748  DT.95306739 

    Selected AceView cDNA sequences (see all 191):

    AJ573346 BE677106 AI637991 BM702096 BM987869 AI247084 AI376520 AI423441 
    BX279746 BU528586 BX357612 AW170545 AI091741 BQ438085 AL705416 BM703714 
    BM693685 BM272107 CD244675 AA910570 BU527860 AI652673 AW517318 AW196006 

    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

    SMG6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGACTGC
    SMG6 Expression
    About this image


    SMG6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Umbilical Cord (Extraembryonic Tissues)
    SMG6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMG6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.448342

    UniProtKB/Swiss-Prot: EST1A_HUMAN, Q86US8
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including SMG6: 
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SMG6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMG6
    QuantiTect SYBR Green Assays in human, mouse, rat SMG6
    QuantiFast Probe-based Assays in human, mouse, rat SMG6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMG6

    (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 SMG6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smg61 , 5 Smg-6 homolog, nonsense mediated mRNA decay factor more1, 5 88.5(n)1
    90.9(a)1
      11 (45.76 cM)5
    1036771  NM_001002764.11  NP_001002764.11 
     749258235 
    chicken
    (Gallus gallus)
    Aves LOC1017506001 telomerase-binding protein EST1A-like 72.96(n)
    73.13(a)
      101750600  XM_004946549.1  XP_004946606.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMG66
    SMG6 nonsense mediated mRNA decay factor
    62(a)
    1 ↔ 1
    GL343470.1(595707-660163)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ400176.12   -- 79.02(n)    BQ400176.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003340201 telomerase-binding protein EST1A-like 62.45(n)
    63.63(a)
      100334020  XM_005172741.1  XP_005172798.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Smg66
    Smg6
    28(a)
    1 ↔ 1
    3R(20855145-20859177)
    worm
    (Caenorhabditis elegans)
    Secernentea smg-66
    Protein SMG-6, isoform a
    19(a)
    1 ↔ 1
    III(2473868-2486626) WBGene00004884


    ENSEMBL Gene Tree for SMG6 (if available)
    TreeFam Gene Tree for SMG6 (if available)

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

    TryGeneCards Plus
    Paralogs for SMG6 gene
    SMG52  SMG72  

    SMG6 for paralogs           About GeneDecksing



    (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 SMG6 (see all 4914)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1849330851,2
    C--1963483(+) AGATTG/TGCCCC 4 -- ut31 nc-transcript-variant0--------
    rs1381000551,2
    C--1963592(+) ACCAGC/GTAAAG 4 -- ut31 nc-transcript-variant0--------
    rs1495277901,2
    C--1963596(+) GCTAAA/GGGGGC 4 -- ut31 nc-transcript-variant0--------
    rs1459422901,2
    C--1963744(+) GAGCCA/GAGGGT 4 -- ut31 nc-transcript-variant0--------
    rs1889446821,2
    --1963947(+) GGTGAA/TGGGGG 4 -- ut31 nc-transcript-variant0--------
    rs129465641,2
    C,F--1963961(+) TGAGGA/G/TGAGTC 8 -- ut31 nc-transcript-variantese313NA WA CSA EA 376
    rs9031581,2
    C,F,A,H--1964018(-) TCCCTC/TTCTCC 4 -- ut31 nc-transcript-variantese3 trp330Minor allele frequency- G:0.00EA NA MN NS WA CSA 2683
    rs1922628281,2
    --1964095(+) GTCCAC/TGGGGA 4 -- ut31 nc-transcript-variant0--------
    rs1415308111,2
    --1964247(+) ACTTGC/GGTTCA 4 -- ut31 nc-transcript-variant0--------
    rs10455241,2
    F--1964270(-) TCCCTA/GAGGCC 4 -- ut31 nc-transcript-variantese30--------

    HapMap Linkage Disequilibrium report for SMG6 (1963133 - 2207069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SMG6 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715494CNV Deletion23290073
    esv2715491CNV Deletion23290073
    esv2715497CNV Deletion23290073
    esv2715498CNV Deletion23290073
    esv1259463CNV Deletion17803354
    esv2668978CNV Deletion23128226
    esv2715495CNV Deletion23290073
    esv2715500CNV Deletion23290073
    esv2715499CNV Deletion23290073
    esv3071CNV Deletion18987735

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMG6
    DNA2.0 Custom Variant and Variant Library Synthesis for SMG6

    (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: 610963    OMIM disorders: --

    8 diseases for SMG6:    
    About MalaCards
    gigantism    lissencephaly    brain cancer    esophageal squamous cell carcinoma
    coronary artery disease    schizophrenia    esophagitis    squamous cell carcinoma


    SMG6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMG6
    Human Genome Epidemiology (HuGE) Navigator: SMG6 (6 documents)

    Export disorders for SMG6 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 SMG6 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with SMG6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional conservation of the telomerase protein Est1p in humans. (PubMed id 12699629)1, 2, 3 Snow B.E.... Harrington L. (Curr. Biol. 2003)
    2. A human homolog of yeast est1 associates with telomerase and uncaps chromosome ends when overexpressed. (PubMed id 12676087)1, 2, 3 Reichenbach P....Lingner J. (Curr. Biol. 2003)
    3. Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population. (PubMed id 19018238)1, 4, 9 TabarAcs-Seisdedos R....MartA-nez S. (Psychiatr. Genet. 2008)
    4. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (Nat. Genet. 2011)
    5. SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay. (PubMed id 20930030)1, 2 Kashima I....Izaurralde E. (amp 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells. (PubMed id 19060897)1, 2 Eberle A.B.... Jensen T.H. (Nat. Struct. Mol. Biol. 2009)
    8. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. (PubMed id 19584346)1, 4 Vasan R.S....Blankenberg S. (JAMA 2009)
    9. SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan. (PubMed id 18974281)1, 2 Huntzinger E.... Izaurralde E. (RNA 2008)
    10. Crystal structure of the PIN domain of human telomerase-associated protein EST1A. (PubMed id 17557331)1, 2 Takeshita D.... Tanokura M. (Proteins 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: 23293 HGNC: 17809 AceView: SMYD4 Ensembl:ENSG00000070366 euGenes: HUgn23293
    ECgene: SMG6 Kegg: 23293 H-InvDB: SMG6

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0732

    (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 SMG6 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 SMG6 gene:
    Search GeneIP for patents involving SMG6

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 SMG6  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SMG6  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SMG6  
     OriGene qSTAR qPCR primer pairs in human, mouse for SMG6   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SMG6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SMG6   OriGene Custom Protein Services for SMG6  

     
     
     Block miRNA regulation of human, mouse, rat SMG6 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SMG6
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMG6 Predesigned siRNA for gene silencing in human, mouse, rat SMG6
     QuantiFast Probe-based Assays in human, mouse, rat SMG6 QuantiTect SYBR Green Assays in human, mouse, rat SMG6
     PCR Arrays including human, mouse, rat SMG6 Search Chromatin IP Primers for SMG6
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMG6  Search GeneGlobe Interaction Network for SMG6
     Regulatory tfbs in SMG6 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SMG6 GenScript cDNA clones with any tag delivered in your preferred vector for SMG6
     GenScript Custom Assay Services for SMG6 GenScript Custom overexpressing Cell Line Services for SMG6
     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 SMG6 (EST1A)
     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
     SMG6 antibodies
     SMG6 lysates
     Search for Antibodies for SMG6 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SMG6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SMG6
     Antibodies for SMG6
     ELISAs for SMG6
     CLIAs for SMG6



     Browse ESI BIO Cell Lines and PureStem Progenitors for SMG6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMG6
     SwitchGear 3'UTR luciferase reporter plasmids for SMG6
     SwitchGear Promoter luciferase reporter plasmids for SMG6
     Search ThermoFisher Antibodies for SMG6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMG6
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMG6
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMG6
     Search LSBio for Antibodies for SMG6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 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      SMG6 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4