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

Other Information

Locus ID:

NCBI: 23049
MIM: 607032
HGNC: 30045
Ensembl: ENSG00000157106

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157106ENST00000330588A0A087WXM7
ENSG00000157106ENST00000446231Q96Q15
ENSG00000157106ENST00000532700E9PNP6
ENSG00000157106ENST00000561947I3L400
ENSG00000157106ENST00000563235H3BQN7
ENSG00000157106ENST00000563836H3BR09
ENSG00000157106ENST00000565224I3L0W2
ENSG00000157106ENST00000565324J3KRA9
ENSG00000157106ENST00000566328A0A087X1K8
ENSG00000157106ENST00000568038I3L144
ENSG00000157106ENST00000569122H3BPS6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
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
364004302023SMG1, a nonsense-mediated mRNA decay (NMD) regulator, as a candidate therapeutic target in multiple myeloma.1
364004302023SMG1, a nonsense-mediated mRNA decay (NMD) regulator, as a candidate therapeutic target in multiple myeloma.1
347619352021SMG1 and CDK12 Link ΔNp63α Phosphorylation to RNA Surveillance in Keratinocytes.3
348423562021Large-scale genomic sequencing reveals adaptive opportunity of targeting mutated-PI3Kα in early and advanced HER2-positive breast cancer.6
347619352021SMG1 and CDK12 Link ΔNp63α Phosphorylation to RNA Surveillance in Keratinocytes.3
348423562021Large-scale genomic sequencing reveals adaptive opportunity of targeting mutated-PI3Kα in early and advanced HER2-positive breast cancer.6
324693122020Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.16
324693122020Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity.16
314698262019A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.8
316591582019MicroRNA-18a promotes cancer progression through SMG1 suppression and mTOR pathway activation in nasopharyngeal carcinoma.22
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
314698262019A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.8
316591582019MicroRNA-18a promotes cancer progression through SMG1 suppression and mTOR pathway activation in nasopharyngeal carcinoma.22
317294662019Cryo-EM structure of SMG1-SMG8-SMG9 complex.13

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/teaching-explorer/cancer-prone-explorer/hgnc