SMG8 (SMG8 nonsense mediated mRNA decay factor)

2014-11-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
ALKUS,C17orf71
FUSION GENES

Other Information

Locus ID:

NCBI: 55181
MIM: 613175
HGNC: 25551
Ensembl: ENSG00000167447

Variants:

dbSNP: 55181
ClinVar: 55181
TCGA: ENSG00000167447
COSMIC: SMG8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167447ENST00000300917Q8ND04
ENSG00000167447ENST00000543872Q8ND04
ENSG00000167447ENST00000578922Q8ND04
ENSG00000167447ENST00000580798J3QKP6
ENSG00000167447ENST00000582469J3KTD7

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
347615172022Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.2
347615172022Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.2
324693122020Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.16
332423962020Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.14
324693122020Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.16
332423962020Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.14
317294662019Cryo-EM structure of SMG1-SMG8-SMG9 complex.13
317924492019InsP(6) binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex.20
317294662019Cryo-EM structure of SMG1-SMG8-SMG9 complex.13
317924492019InsP(6) binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex.20
239832632013Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.20
239832632013Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.20
212451682011The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8.43
212451682011The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8.43

Citation

Dessen P

SMG8 (SMG8 nonsense mediated mRNA decay factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73558/smg8-(smg8-nonsense-mediated-mrna-decay-factor)