SMG1 - SMG1 nonsense mediated mRNA decay associated PI3K related kinase Gene

Homo sapiens

Also known as ATX; LIP; 61E3.4

Gene ID: 23049 | Gene type: protein coding

About SMG1

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:18,804,860-18,926,408 (from NCBI)

This gene has 16 transcripts (splice variants), 223 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 20.7), bone marrow (RPKM 12.3) and 25 other tissues.

Summary

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

SMG1 Products(1)

mRNA	Protein	Name
NM_015092.5	NP_055907.3	serine/threonine-protein kinase SMG1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables diacylglycerol-dependent serine/threonine kinase activity	EXP EXP: Inferred from Experiment	11544179	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11544179	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	11544179	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	17916692	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	15175154	GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA IDA: Inferred from direct assay	11544179	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	11544179	GOA
involved in phosphatidylinositol phosphate biosynthetic process	IDA IDA: Inferred from direct assay	11331269	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	11331269	GOA
involved in regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	17916692	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14636577	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14636577	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMG1 Protein Structure

PI3_PI4_kinase

FATC

0
600
1200
1800
2400
3000
3661 a.a.

Protein Preferred Names

Protein Names

serine/threonine-protein kinase SMG1

PI-3-kinase-related kinase SMG-1

SMG1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SMG1	Q96Q15	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	16452507
Intra	SMG1	Q96Q15	UPF2	Homo sapiens	Q9HAU5	Pull Down	20371770
Intra	SMG1	Q96Q15	UPF2	Homo sapiens	Q9HAU5	Anti Bait CoIP	18256688
Intra	SMG1	Q96Q15	UPF2	Homo sapiens	Q9HAU5	Anti Tag CoIP	19417104
Intra	SMG1	Q96Q15	UPF2	Homo sapiens	Q9HAU5	Anti Bait CoIP	16452507
Intra	SMG1	Q96Q15	PABPC1	Homo sapiens	P11940	Anti Bait CoIP	16452507

Cross: Cross-species interaction Intra: Intraspecies interaction

SMG1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82242	SMG1 Antibody (YA1987)	WB	Human, Mouse, Rat

Related Diseases

Diseases

Alias

Breast Juvenile Papillomatosis

Juvenile Papillomatosis Of The Breast

Progressive Myoclonus Epilepsy 7

Epm7	Meak
Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation	Pme Type 7
Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency	Progressive Myoclonus Epilepsy Type 7

Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161111	KVS0001	Inhibitor	99.14%	Unkown
HY-RS13430	SMG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SMG1	VGNC	VGNC:65486
Macaca mulatta	SMG1	VGNC	VGNC:99591
Rattus norvegicus	SMG1	RGD	RGD:1563508
Bos taurus	SMG1	VGNC	VGNC:35010
Mus musculus	SMG1	MGD	MGI:1919742
Canis familiaris	SMG1	VGNC	VGNC:46554

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