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

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

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		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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