Human Gene SMG8 (ENST00000300917.10_5) from GENCODE V47lift37
  Description: SMG8 nonsense mediated mRNA decay factor (from RefSeq NM_018149.7)
Gencode Transcript: ENST00000300917.10_5
Gencode Gene: ENSG00000167447.13_15
Transcript (Including UTRs)
   Position: hg19 chr17:57,287,396-57,292,591 Size: 5,196 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr17:57,287,413-57,292,363 Size: 4,951 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:57,287,396-57,292,591)mRNA (may differ from genome)Protein (991 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMG8_HUMAN
DESCRIPTION: RecName: Full=Protein SMG8; AltName: Full=Amplified in breast cancer gene 2 protein; AltName: Full=Protein smg-8 homolog;
FUNCTION: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity.
SUBUNIT: Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form.
INTERACTION: Q9H0W8:SMG9; NbExp=4; IntAct=EBI-3903643, EBI-2872322;
PTM: Phosphorylated by SMG1.
SIMILARITY: Belongs to the SMG8 family.
SEQUENCE CAUTION: Sequence=AAH20957.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91699.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.78 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 166.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.5017-0.147 Picture PostScript Text
3' UTR -42.50228-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019354 - Smg8/Smg9

Pfam Domains:
PF10220 - Smg8_Smg9

ModBase Predicted Comparative 3D Structure on Q8ND04
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0045859 regulation of protein kinase activity

Cellular Component:
GO:0005575 cellular_component
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF349467 - Homo sapiens amplified in breast cancer 2 (ABC2) mRNA, complete cds.
LF384788 - JP 2014500723-A/192291: Polycomb-Associated Non-Coding RNAs.
AL834490 - Homo sapiens mRNA; cDNA DKFZp434K1531 (from clone DKFZp434K1531).
AK026858 - Homo sapiens cDNA: FLJ23205 fis, clone ADSE00359.
BC031604 - Homo sapiens chromosome 17 open reading frame 71, mRNA (cDNA clone IMAGE:5178217), partial cds.
LF327218 - JP 2014500723-A/134721: Polycomb-Associated Non-Coding RNAs.
BC020957 - Homo sapiens chromosome 17 open reading frame 71, mRNA (cDNA clone MGC:8821 IMAGE:3851898), complete cds.
AK001449 - Homo sapiens cDNA FLJ10587 fis, clone NT2RP2004042.
CU676786 - Synthetic construct Homo sapiens gateway clone IMAGE:100020746 5' read C17orf71 mRNA.
JF432378 - Synthetic construct Homo sapiens clone IMAGE:100073575 chromosome 17 open reading frame 71 (C17orf71) gene, encodes complete protein.
KJ902784 - Synthetic construct Homo sapiens clone ccsbBroadEn_12178 SMG8 gene, encodes complete protein.
LF327216 - JP 2014500723-A/134719: Polycomb-Associated Non-Coding RNAs.
LF327215 - JP 2014500723-A/134718: Polycomb-Associated Non-Coding RNAs.
JD206423 - Sequence 187447 from Patent EP1572962.
MA620365 - JP 2018138019-A/192291: Polycomb-Associated Non-Coding RNAs.
MA562795 - JP 2018138019-A/134721: Polycomb-Associated Non-Coding RNAs.
MA562793 - JP 2018138019-A/134719: Polycomb-Associated Non-Coding RNAs.
MA562792 - JP 2018138019-A/134718: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8ND04 (Reactome details) participates in the following event(s):

R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ABC2, C17orf71, ENST00000300917.1, ENST00000300917.2, ENST00000300917.3, ENST00000300917.4, ENST00000300917.5, ENST00000300917.6, ENST00000300917.7, ENST00000300917.8, ENST00000300917.9, NM_018149, Q8N5U5, Q8ND04, Q8TDN0, Q9H5P5, Q9NVQ1, SMG8_HUMAN, uc317mrp.1, uc317mrp.2
UCSC ID: ENST00000300917.10_5
RefSeq Accession: NM_018149.7
Protein: Q8ND04 (aka SMG8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.