SMG6 (SMG6 nonsense mediated mRNA decay factor)

2016-10-01  

Identity

HGNC
SMG6
LOCATION
17p13.3
LOCUSID
23293
ALIAS
C17orf31,EST1A,SMG-6,hSMG5/7a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23293
MIM: 610963
HGNC: 17809
Ensembl: ENSG00000070366

Variants:

dbSNP: 23293
ClinVar: 23293
TCGA: ENSG00000070366
COSMIC: SMG6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070366ENST00000263073Q86US8
ENSG00000070366ENST00000354901Q86US8
ENSG00000070366ENST00000536871Q86US8
ENSG00000070366ENST00000570606I3L355
ENSG00000070366ENST00000570659I3L421
ENSG00000070366ENST00000570668I3L3A9
ENSG00000070366ENST00000571442I3L1W8
ENSG00000070366ENST00000572205K7ENH7
ENSG00000070366ENST00000572369K7EKV2
ENSG00000070366ENST00000575176K7ELM2
ENSG00000070366ENST00000575454I3L390
ENSG00000070366ENST00000575663I3L176

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387098912024UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.0
387098912024UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.0
354878952022CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.11
354878952022CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.11
329416502020Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay.17
329416502020Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay.17
293638642018SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.3
293638642018SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.3
278644722017Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.104
284616252017Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates.20
278644722017Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.104
284616252017Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates.20
254299782015Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells.58
254299782015Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells.58
250131722014Phospho-dependent and phospho-independent interactions of the helicase UPF1 with the NMD factors SMG5-SMG7 and SMG6.63

Citation

Dessen P

SMG6 (SMG6 nonsense mediated mRNA decay factor)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56420/smg6-(smg6-nonsense-mediated-mrna-decay-factor)