SMG6 (SMG6 nonsense mediated mRNA decay factor)

2016-10-01 Affiliation

Identity

HGNC

SMG6

LOCATION

17p13.3

LOCUSID

23293

ALIAS

C17orf31,EST1A,SMG-6,hSMG5/7a

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000070366	ENST00000263073	Q86US8
ENSG00000070366	ENST00000354901	Q86US8
ENSG00000070366	ENST00000536871	Q86US8
ENSG00000070366	ENST00000570606	I3L355
ENSG00000070366	ENST00000570659	I3L421
ENSG00000070366	ENST00000570668	I3L3A9
ENSG00000070366	ENST00000571442	I3L1W8
ENSG00000070366	ENST00000572205	K7ENH7
ENSG00000070366	ENST00000572369	K7EKV2
ENSG00000070366	ENST00000575176	K7ELM2
ENSG00000070366	ENST00000575454	I3L390
ENSG00000070366	ENST00000575663	I3L176

Expression (GTEx)

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

Pathway	Source	External ID
mRNA surveillance pathway	KEGG	ko03015
mRNA surveillance pathway	KEGG	hsa03015
Gene Expression	REACTOME	R-HSA-74160
Nonsense-Mediated Decay (NMD)	REACTOME	R-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	REACTOME	R-HSA-975957

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19584346	2009	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	93
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
12676087	2003	A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed.	65
25013172	2014	Phospho-dependent and phospho-independent interactions of the helicase UPF1 with the NMD factors SMG5-SMG7 and SMG6.	39
25429978	2015	Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells.	34
20930030	2010	SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay.	31
27864472	2017	Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.	30
25053839	2014	A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD.	27
17940095	2007	Protein RNA and protein protein interactions mediate association of human EST1A/SMG6 with telomerase.	22
17557331	2007	Crystal structure of the PIN domain of human telomerase-associated protein EST1A.	14

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