Smg1 SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smg1provided by MGI
Official Full Name: SMG1 nonsense mediated mRNA decay associated PI3K related kinaseprovided by MGI
Primary source: MGI:MGI:1919742
See related: Ensembl:ENSMUSG00000030655 AllianceGenome:MGI:1919742
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0421; 2610207I05Rik; 5430435M13Rik; C130002K18Rik
Summary: Predicted to enable diacylglycerol-dependent serine/threonine kinase activity and telomeric DNA binding activity. Predicted to be involved in several processes, including nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; phosphatidylinositol phosphate biosynthetic process; and protein phosphorylation. Located in chromatoid body. Is expressed in cerebral cortex; early embryo; and germ cell of testis. Orthologous to human SMG1 (SMG1 nonsense mediated mRNA decay associated PI3K related kinase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 16.3), thymus adult (RPKM 14.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F1; 7 63.44 cM

Exon count:: 64

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (117730531..117843026, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (118131308..118244437, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SMG1, a nonsense-mediated mRNA decay (NMD) regulator, as a candidate therapeutic target in multiple myeloma.
Title: SMG1, a nonsense-mediated mRNA decay (NMD) regulator, as a candidate therapeutic target in multiple myeloma.
SMG1 heterozygosity exacerbates haematopoietic cancer development in Atm null mice by increasing persistent DNA damage and oxidative stress.
Title: SMG1 heterozygosity exacerbates haematopoietic cancer development in Atm null mice by increasing persistent DNA damage and oxidative stress.
smg-1 mutations confer strong hyper-sensitivity to IR. SMG-1 does not appear to act in any of the three major pathways known to mend DNA DSBs.
Title: A Role for the Nonsense-Mediated mRNA Decay Pathway in Maintaining Genome Stability in Caenorhabditis elegans.
The CK2 phospho-dependent interaction between TEL2 and the R2TP complex affects phosphatidylinositol 3-kinase-related kinase functions and is essential for mTOR and SMG1 stability in vivo.
Title: CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability.
Results demonstrate a critical role for Smg1 in early mouse development and link the loss of this NMD factor to major and widespread changes in the mammalian transcriptome.
Title: Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (2)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126386 (e-PCR)
- UniSTS:163094

RH134142 (e-PCR)
- UniSTS:217424

RH68916 (e-PCR)
- UniSTS:11623

D7Mit282 (e-PCR), detects polymorphism
- UniSTS:131181

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables diacylglycerol-dependent serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables telomeric DNA binding	IEA Inferred from Electronic Annotation more info
enables telomeric DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA Inferred from Electronic Annotation more info
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol phosphate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in protein autophosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of telomere maintenance	IEA Inferred from Electronic Annotation more info
involved_in regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromatoid body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serine/threonine-protein kinase SMG1

Names: PI-3-kinase-related kinase SMG-1; SMG-1; SMG1 homolog, phosphatidylinositol 3-kinase-related kinase; lambda-interacting protein; lambda/iota protein kinase C-interacting protein; nonsense mediated mRNA decay-associated PI3K-related kinase SMG1; phosphatidylinositol 3-kinase-related protein kinase

NP_001026984.1

EC 2.7.11.1

XP_006507740.1

EC 2.7.11.1

XP_006507741.1

EC 2.7.11.1

XP_030098366.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001031814.1 → NP_001026984.1 serine/threonine-protein kinase SMG1

See identical proteins and their annotated locations for NP_001026984.1

Status: PROVISIONAL

Source sequence(s)

AC131788, AC132432

Consensus CDS

CCDS40102.1

UniProtKB/Swiss-Prot

E9QLR6, Q5DU42, Q6ZQC0, Q8BKX6, Q8BLU4, Q8BWJ5, Q8BXD3

Related

ENSMUSP00000032891.9, ENSMUST00000032891.15

Conserved Domains (3) summary

cd05170
Location:2119 → 2424

PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1

pfam02260
Location:3628 → 3657

FATC; FATC domain

pfam15785
Location:629 → 1240

SMG1; Serine/threonine-protein kinase smg-1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

117730531..117843026 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507677.4 → XP_006507740.1 serine/threonine-protein kinase SMG1 isoform X1

Conserved Domains (4) summary

cd05170
Location:2118 → 2423

PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1

pfam02260
Location:3627 → 3656

FATC; FATC domain

pfam15785
Location:628 → 1239

SMG1; Serine/threonine-protein kinase smg-1

pfam17229
Location:30 → 138

DUF5303; Region of unknown function (DUF5303)
XM_006507678.3 → XP_006507741.1 serine/threonine-protein kinase SMG1 isoform X2

Conserved Domains (4) summary

cd05170
Location:2095 → 2400

PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1

pfam02260
Location:3604 → 3633

FATC; FATC domain

pfam15785
Location:605 → 1216

SMG1; Serine/threonine-protein kinase smg-1

pfam17229
Location:6 → 114

DUF5303; Region of unknown function (DUF5303)
XM_030242506.1 → XP_030098366.1 serine/threonine-protein kinase SMG1 isoform X3

Conserved Domains (4) summary

cd05170
Location:2094 → 2399

PIKKc_SMG1; Catalytic domain of Suppressor of Morphogenetic effect on Genitalia-1

pfam02260
Location:3603 → 3632

FATC; FATC domain

pfam15785
Location:604 → 1215

SMG1; Serine/threonine-protein kinase smg-1

pfam17229
Location:6 → 114

DUF5303; Region of unknown function (DUF5303)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177180.2: Suppressed sequence

Description

NM_177180.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.