SMG1 (SMG1 nonsense mediated mRNA decay associated PI3K related kinase)

2006-10-01

Identity

HGNC

SMG1

LOCATION

16p12.3

LOCUSID

23049

ALIAS

61E3.4,ATX,LIP

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: 23049
MIM: 607032
HGNC: 30045
Ensembl: ENSG00000157106

Variants:

dbSNP: 23049
ClinVar: 23049
TCGA: ENSG00000157106
COSMIC: SMG1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157106	ENST00000330588	A0A087WXM7
ENSG00000157106	ENST00000446231	Q96Q15
ENSG00000157106	ENST00000532700	E9PNP6
ENSG00000157106	ENST00000561947	I3L400
ENSG00000157106	ENST00000563235	H3BQN7
ENSG00000157106	ENST00000563836	H3BR09
ENSG00000157106	ENST00000565224	I3L0W2
ENSG00000157106	ENST00000565324	J3KRA9
ENSG00000157106	ENST00000566328	A0A087X1K8
ENSG00000157106	ENST00000568038	I3L144

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

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
31469826	2019	A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.	8
31469826	2019	A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.	8
31659158	2019	MicroRNA-18a promotes cancer progression through SMG1 suppression and mTOR pathway activation in nasopharyngeal carcinoma.	22
31659158	2019	MicroRNA-18a promotes cancer progression through SMG1 suppression and mTOR pathway activation in nasopharyngeal carcinoma.	22
31729466	2019	Cryo-EM structure of SMG1-SMG8-SMG9 complex.	13
31729466	2019	Cryo-EM structure of SMG1-SMG8-SMG9 complex.	13
31792449	2019	InsP(6) binding to PIKK kinases revealed by the cryo-EM structure of an SMG1-SMG8-SMG9 complex.	20
32469312	2020	Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.	16
32469312	2020	Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.	16
34761935	2021	SMG1 and CDK12 Link ΔNp63α Phosphorylation to RNA Surveillance in Keratinocytes.	3

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Citation

Dessen P

SMG1 (SMG1 nonsense mediated mRNA decay associated PI3K related kinase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43495