SMG1 smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Homo sapiens] - Gene

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Summary

Official Symbol: SMG1provided by HGNC
Official Full Name: smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)provided by HGNC
Primary source: HGNC:30045
See related: Ensembl:ENSG00000157106; HPRD:06123; MIM:607032; Vega:OTTHUMG00000166900
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATX; LIP; 61E3.4; KIAA0421
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. Alternative spliced transcript variants have been described, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 16p12.3

Sequence :: Chromosome: 16; NC_000016.9 (18816175..18937726, complement)

See SMG1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Hyperglycemia (both 10 and 20 mM)-treated monocyte showed up-regulated phosphorylation of p101 and p110gamma subunits of PI-3 kinase in comparison to 5 mM glucose.
Title: Effect of hyperglycemia on human monocyte activation.
stress granule formation appears more complex than originally envisaged and hSMG-1 plays a central role in this process.
Title: A novel role for hSMG-1 in stress granule formation.
SMG1 plays independent roles in responding to DNA, RNA damage and a broader role in protection against cellular stress tna other member of the PIKK family.
Title: The RNA surveillance protein SMG1 activates p53 in response to DNA double-strand breaks but not exogenously oxidized mRNA.
The inhibition of hSMG-1 significantly enhances the sensitivity of human lung cancer H1299 cells to gemcitabine and cisplatin.
Title: [Effect of inhibiting the expression of hSMG-1 on chemosensitivity of human non-small cell lung cancer H1299 cells].
large-scale conformational changes induced by SMG-8 after SMG-9-mediated recruitment tune SMG-1 kinase activity to modulate nonsense-mediated mRNA decay
Title: The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8.
The results of this study indicated a significant impact of brief naturalistic stressors on AS-mediated regulation of gene expression in peripheral leukocytes, and suggest the SMG-1 splice variant as a potential biomarker for acute psychological stress
Title: Brief naturalistic stress induces an alternative splice variant of SMG-1 lacking exon 63 in peripheral leukocytes.
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.
The phosphatidylinositol 3-kinase pathway plays a critical role in the transfer of signal from morphine stimuli to mu opioid receptor gene transcription.
Title: Mechanisms involved in phosphatidylinositol 3-kinase pathway mediated up-regulation of the mu opioid receptor in lymphocytes.
SMG-1 negatively regulated HIF-1alpha activity in hypoxia, in part through blocking MAPK activation.
Title: Kinome siRNA screen identifies SMG-1 as a negative regulator of hypoxia-inducible factor-1alpha in hypoxia.
SMG-8 and SMG-9 suppress SMG-1 kinase activity in the isolated SMG-1 complex and are involved in Nonsense-mediated mRNA decay in both mammals and nematodes
Title: SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
AAA86535.2	NP_002731.2	PRKCI	BIND	PubMed	PKC-lambda/iota interacts with LIP.
NP_054725.1	NP_000537.2	TP53	BIND	PubMed	hSMG-1 phosphorylates p53.
NP_054725.1	NP_002902.2	UPF1	BIND	PubMed	hSMG-1 phosphorylates hUpf1.
PI3 kinase related kinase SMG1	P33151	CDH5	HPRD	PubMed
PI3 kinase related kinase SMG1	P41743	PRKCI	HPRD	PubMed
PI3 kinase related kinase SMG1	O15198	SMAD9	HPRD	PubMed
PI3 kinase related kinase SMG1	Q9UPR3	SMG5	HPRD	PubMed
PI3 kinase related kinase SMG1	Q92900	UPF1	HPRD	PubMed
PI3 kinase related kinase SMG1	Q9HAU5	UPF2	HPRD	PubMed
PI3 kinase related kinase SMG1	Q9H1J1	UPF3A	HPRD	PubMed
BioGRID:116687	BioGRID:111570	PRKCI	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:116687	BioGRID:116687	SMG1	BioGRID	PubMed	Biochemical Activity
BioGRID:116687	BioGRID:115223	TELO2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116687	BioGRID:115030	TTI1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116687	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:116687	BioGRID:111908	UPF1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Protein-peptide
BioGRID:116687	BioGRID:117490	UPF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116687	BioGRID:122397	UPF3A	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	TAS Traceable Author Statement more info	PubMed
protein serine/threonine kinase activity	EXP Inferred from Experiment more info
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
DNA repair	IEA Inferred from Electronic Annotation more info
RNA metabolic process	TAS Traceable Author Statement more info
gene expression	TAS Traceable Author Statement more info
mRNA export from nucleus	TAS Traceable Author Statement more info	PubMed
mRNA metabolic process	TAS Traceable Author Statement more info
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA Inferred from Direct Assay more info	PubMed
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	NAS Non-traceable Author Statement more info	PubMed
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS Traceable Author Statement more info
peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
peptidyl-serine phosphorylation	TAS Traceable Author Statement more info	PubMed
phosphatidylinositol phosphorylation	IDA Inferred from Direct Assay more info	PubMed
protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
response to stress	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: serine/threonine-protein kinase SMG1

Names: serine/threonine-protein kinase SMG1; lambda-interacting protein; PI-3-kinase-related kinase SMG-1; phosphatidylinositol 3-kinase-related kinase; lambda/iota protein kinase C-interacting protein; phosphatidylinositol 3-kinase-related protein kinase; SMG1 homolog, phosphatidylinositol 3-kinase-related kinase

NP_055907.3

EC 2.7.11.1

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NCBI Reference Sequences (RefSeq)

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_015092.4 → NP_055907.3 serine/threonine-protein kinase SMG1

Status: REVIEWED

Source sequence(s)

AB061371, AK025794, AL833298, AW088221, AW503964, AY014957, BC037335, BE079340, DA433527, DA854035

Consensus CDS

CCDS45430.1

UniProtKB/Swiss-Prot

Q96Q15

Related

ENSP00000402515, OTTHUMP00000234388, ENST00000446231, OTTHUMT00000391817

Conserved Domains (3) summary

cd05170
Location:2121 – 2426
Blast Score: 1453

PIKKc_SMG1; Suppressor of morphogenetic effect on genitalia-1 (SMG-1), catalytic domain; The SMG-1 catalytic domain subfamily is part of a larger superfamily that includes the catalytic domains of other kinases such as the typical serine/threonine/tyrosine protein ...

smart00146
Location:2153 – 2426
Blast Score: 460

PI3Kc; Phosphoinositide 3-kinase, catalytic domain

pfam02260
Location:3631 – 3660
Blast Score: 126

FATC; FATC domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

18816175..18937726, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

17358355..17474509, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC026472.8 (151276..171860)	None
genomic	AC092287.4 (3065..89671)	None
genomic	AC138811.3 (180759..194778)	None
genomic	CH471186.1	EAW50262.1
mRNA	AB007881.2	BAA24851.2
mRNA	AB061371.1	BAB70696.1
mRNA	AF186377.1	AAK58892.1
mRNA	AF395444.1	AAM73708.1
mRNA	AK025794.1	None
mRNA	AK057563.1	None
mRNA	AK074359.1	None
mRNA	AK123332.1	None
mRNA	AL833298.1	None
mRNA	AW088221.1	None
mRNA	AW503964.1	None
mRNA	AY014957.1	AAK00511.1
mRNA	BC037335.1	None
mRNA	BC047629.1	None
mRNA	BE079340.1	None
mRNA	BF333707.1	None
mRNA	BU633006.1	None
mRNA	CA868047.1	None
mRNA	DA433527.1	None
mRNA	DA854035.1	None
mRNA	U32581.2	AAA86535.2
other-genetic	BC156497.1	AAI56498.1