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Aliases for SMG8 Gene

Aliases for SMG8 Gene

  • SMG8 Nonsense Mediated MRNA Decay Factor 2 3 5
  • Amplified In Breast Cancer Gene 2 Protein 3 4
  • Protein Smg-8 Homolog 3 4
  • C17orf71 3 4
  • Smg-8 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
  • Smg-8 Homolog, Nonsense Mediated MRNA Decay Factor 3
  • Chromosome 17 Open Reading Frame 71 2
  • ABC2 4

External Ids for SMG8 Gene

Previous HGNC Symbols for SMG8 Gene

  • C17orf71

Previous GeneCards Identifiers for SMG8 Gene

  • GC17P057288

Summaries for SMG8 Gene

GeneCards Summary for SMG8 Gene

SMG8 (SMG8 Nonsense Mediated MRNA Decay Factor) is a Protein Coding gene. Among its related pathways are Gene Expression and Viral mRNA Translation. An important paralog of this gene is ENSG00000265303.

UniProtKB/Swiss-Prot for SMG8 Gene

  • 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMG8 Gene

Genomics for SMG8 Gene

Regulatory Elements for SMG8 Gene

Enhancers for SMG8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SMG8 on UCSC Golden Path with GeneCards custom track

Promoters for SMG8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMG8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMG8 Gene

Chromosome:
17
Start:
59,209,400 bp from pter
End:
59,215,250 bp from pter
Size:
5,851 bases
Orientation:
Plus strand

Genomic View for SMG8 Gene

Genes around SMG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMG8 Gene

Proteins for SMG8 Gene

  • Protein details for SMG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8ND04-SMG8_HUMAN
    Recommended name:
    Protein SMG8
    Protein Accession:
    Q8ND04
    Secondary Accessions:
    • Q8N5U5
    • Q8TDN0
    • Q9H5P5
    • Q9NVQ1

    Protein attributes for SMG8 Gene

    Size:
    991 amino acids
    Molecular mass:
    109684 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH20957.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91699.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SMG8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMG8 Gene

Proteomics data for SMG8 Gene at MOPED

Post-translational modifications for SMG8 Gene

Other Protein References for SMG8 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SMG8

No data available for DME Specific Peptides for SMG8 Gene

Domains & Families for SMG8 Gene

Protein Domains for SMG8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMG8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8ND04

UniProtKB/Swiss-Prot:

SMG8_HUMAN :
  • Belongs to the SMG8 family.
Family:
  • Belongs to the SMG8 family.
genes like me logo Genes that share domains with SMG8: view

No data available for Gene Families for SMG8 Gene

Function for SMG8 Gene

Molecular function for SMG8 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for SMG8 Gene

genes like me logo Genes that share phenotypes with SMG8: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SMG8 Gene

Localization for SMG8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMG8 Gene COMPARTMENTS Subcellular localization image for SMG8 gene
Compartment Confidence
cytosol 5
nucleus 3
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SMG8 Gene

Pathways & Interactions for SMG8 Gene

genes like me logo Genes that share pathways with SMG8: view

Gene Ontology (GO) - Biological Process for SMG8 Gene

None

No data available for SIGNOR curated interactions for SMG8 Gene

Drugs & Compounds for SMG8 Gene

No Compound Related Data Available

Transcripts for SMG8 Gene

Unigene Clusters for SMG8 Gene

Smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMG8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4
SP1: -
SP2:

Relevant External Links for SMG8 Gene

GeneLoc Exon Structure for
SMG8
ECgene alternative splicing isoforms for
SMG8

Expression for SMG8 Gene

mRNA expression in normal human tissues for SMG8 Gene

Protein differential expression in normal tissues from HIPED for SMG8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.0), Pancreas (8.5), and Fetal Brain (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMG8 Gene



SOURCE GeneReport for Unigene cluster for SMG8 Gene Hs.7296

genes like me logo Genes that share expression patterns with SMG8: view

Protein tissue co-expression partners for SMG8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMG8 Gene

Orthologs for SMG8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMG8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMG8 35
  • 92.13 (n)
  • 96.87 (a)
dog
(Canis familiaris)
Mammalia SMG8 35
  • 93.04 (n)
  • 97.58 (a)
mouse
(Mus musculus)
Mammalia Smg8 35
  • 88.87 (n)
  • 96.06 (a)
Smg8 16
Smg8 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMG8 35
  • 99.76 (n)
  • 99.8 (a)
SMG8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smg8 35
  • 88.53 (n)
  • 95.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMG8 35
  • 74.48 (n)
  • 86.44 (a)
-- 36
  • 85 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia smg8 35
  • 70.01 (n)
  • 76.96 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9776 35
zebrafish
(Danio rerio)
Actinopterygii smg8 35
  • 65.18 (n)
  • 73.08 (a)
smg8 36
  • 69 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010179 35
  • 42.76 (n)
  • 32.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6729 35
  • 44.24 (n)
  • 33.85 (a)
CG6729 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea smg-8 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for SMG8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMG8 Gene

ENSEMBL:
Gene Tree for SMG8 (if available)
TreeFam:
Gene Tree for SMG8 (if available)

Paralogs for SMG8 Gene

Paralogs for SMG8 Gene

genes like me logo Genes that share paralogs with SMG8: view

Variants for SMG8 Gene

Sequence variations from dbSNP and Humsavar for SMG8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs8068240 - 59,210,890(+) ACCTC(C/T)TCGGA reference, missense
rs998343 -- 59,211,293(+) TGCCA(A/C/G/T)AGGAA reference, synonymous-codon
rs3060946 -- 59,211,215(+) CGACA(-/ACA)ACTTT cds-indel
rs3744383 -- 59,213,022(-) TTTGG(C/T)CTCTT reference, synonymous-codon
rs6503905 -- 59,210,093(+) GGAGC(A/G)TCAGC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SMG8 Gene

Variant ID Type Subtype PubMed ID
nsv908644 CNV Loss 21882294
nsv833499 CNV Loss 17160897
dgv995e1 CNV Complex 17122850
dgv3237n71 CNV Loss 21882294
nsv833500 CNV Loss 17160897
nsv908649 CNV Gain 21882294

Variation tolerance for SMG8 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMG8 Gene

HapMap Linkage Disequilibrium report
SMG8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMG8 Gene

Disorders for SMG8 Gene

Relevant External Links for SMG8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMG8

No disorders were found for SMG8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMG8 Gene

Publications for SMG8 Gene

  1. 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. (PMID: 19417104) Yamashita A. … Ohno S. (Genes Dev. 2009) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity. (PMID: 23983263) Usuki F. … Ohno S. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3

Products for SMG8 Gene

Sources for SMG8 Gene

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