SMG1 Gene
protein-coding GIFtS : 63
GCID: GC16 M018816
smg-1 homolog, phosphatidylinositol 3-kinase-related kinase...
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Aliasesfor SMG1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Smg-1 Homolog, Phosphatidylinositol 3-Kinase-Related Kinase (C. Elegans) 1 2 Phosphatidylinositol 3-Kinase-Related Kinase2 LIP1 2 3 5 Phosphatidylinositol 3-Kinase-Related Protein Kinase2 ATX1 2 3 PI-3-Kinase-Related Kinase SMG-12 KIAA04211 3 5 Serine/Threonine-Protein Kinase SMG12 Lambda-Interacting Protein2 3 SMG1 Homolog, Phosphatidylinositol 3-Kinase-Related Kinase2 Lambda/Iota Protein Kinase C-Interacting Protein2 3 SMG-13 61E3.42 3 HSMG-11 EC 2.7.11.13 8 EC 2.7.118
Export aliases for SMG1 gene to outside databases Previous GC identifers: GC16M018309 GC16M018746 GC16M018785 GC16M018726 GC16M017358
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Summariesfor SMG1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SMG1 : 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) UniProtKB/Swiss-Prot: SMG1_HUMAN, Q96Q15 Function : Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways.Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ Gene Wiki entry for SMG1
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Genomic Viewsfor SMG1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000016.9 NC_018927.1 NT_010393.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SMG1 gene promoter: LHX3b/Lhx3b AP-2alpha isoform 3 p53 AP-2alpha isoform 2 AREB6 Pax-3 LHX3a/Lhx3a AP-2alpha isoform 4 AP-2alpha AP-2alphaA Other transcription factors Search SABiosciences Chromatin IP Primers for SMG1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SMG1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16p12.3 Ensembl cytogenetic band: 16p12.3 HGNC cytogenetic band: 16p12.3 SMG1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M018816: view genomic region
(about GC identifiers )
Start:
18,816,175 bp from pter
End:
18,937,776 bp from pter
Size:
121,602 bases
Orientation:
minus strand
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Proteinsfor SMG1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: SMG1_HUMAN, Q96Q15 (See
protein sequence )Recommended Name: Serine/threonine-protein kinase SMG1 Size : 3661 amino acids; 410501 Da
Cofactor : Manganese
Subunit : Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminusinduces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. Interacts with PRKCI. Interacts with TELO2 and TTI1. Interacts with RUVBL1 and RUVBL2. Interacts with UPF2
Subcellular location : Nucleus. Cytoplasm
Miscellaneous : This gene is located in a region of chromosome 16 that contains 2 segmental duplications. Other genesthat are highly related to this exist, but they probably represent pseudogenes
Sequence caution : Sequence=AAA86535.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions : O43305 Q13284 Q8NFX2 Q96QV0 Q96RW3Alternative splicing : 4 isoforms : Q96Q15-1 Q96Q15-2 Q96Q15-3 Q96Q15-4 Explore the universe of human proteins at neXtProt for SMG1: NX_Q96Q15 Post-translational modifications:
Autophosphorylated (Probable)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q96Q15 4 DME Specific Peptides for SMG1 (Q96Q15 ) SMG1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_055907.3 ENSEMBL proteins: ENSP00000402515 ENSP00000456259 ENSP00000455861 ENSP00000458558 ENSP00000460854 ENSP00000458380 ENSP00000432825 ENSP00000455453 ENSP00000456025 ENSP00000374118 Reactome Protein details: Q96Q15 Human Recombinant Protein Products: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
SMG1 for ontologies About GeneDecksing SMG1 Antibody Products: Assay Products for SMG1:
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Protein
Domains / Familiesfor SMG1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SMG1 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry Q96Q15 ProtoNet protein and cluster: Q96Q15
3 Blocks protein families : IPB000357 HEAT repeat IPB000403 Phosphatidylinositol 3- and 4-kinase IPB003151 PIK-related kinase UniProtKB/Swiss-Prot: SMG1_HUMAN, Q96Q15 Similarity : Belongs to the PI3/PI4-kinase familySimilarity : Contains 1 FAT domainSimilarity : Contains 1 FATC domainSimilarity : Contains 1 HEAT repeatSimilarity : Contains 1 PI3K/PI4K domain
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Functionfor SMG1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SMG1_HUMAN, Q96Q15 Function : Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways.Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ Catalytic activity : ATP + a protein = ADP + a phosphoproteinEnzyme regulation : Inhibited by caffeine, LY294002 and wortmanninEnzyme Numbers (IUBMB): EC 2.7.11.1 1 2 EC 2.7.11 2
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMG1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMG1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): SMG1 (NM_003720 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMG1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SMG1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMG1
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6 ): About this table
SMG1 for ontologies About GeneDecksing 9 GenomeRNAi human phenotypes for SMG1 :
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Pathways & Interactionsfor SMG1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/6 super-pathways (see all 6 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Synthesis of PB1-F2 2 Metabolism of mRNA 3 DNA Damage 4 Cell Cycle / Checkpoint Control 5 mRNA surveillance pathway
Pathway sources See GeneCards unified pathways Show all pathways 2
Cell Signaling Technology (CST) Pathways for SMG1 5/6
Reactome Pathways for SMG1 (see all 6 )1
Kegg Pathway (Kegg details for SMG1) :
SMG1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMG1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/35 Interacting proteins for SMG1 (Q96Q15 1 , 2 , 3 ENSP00000402515 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 35 )Interactant Interaction Details GeneCard External ID(s) UPF2 Q9HAU5 1 , 2 , 3 , ENSP00000348708 4 EBI-1049832,EBI-372073 MINT-6539908 I2D:
score=3 STRING: ENSP00000348708 UPF1 Q92900 2 , 3 , ENSP00000262803 4 MINT-6539908 I2D:
score=2 STRING: ENSP00000262803 UPF3A Q9H1J1 2 , 3 , ENSP00000364448 4 MINT-6539908 I2D:
score=3 STRING: ENSP00000364448 TELO2 Q9Y4R8 3 , ENSP00000262319 4 I2D:
score=3 STRING: ENSP00000262319 SMG5 Q9UPR3 3 , ENSP00000355261 4 I2D:
score=2 STRING: ENSP00000355261
About this table Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10 ): About this table
SMG1 for ontologies About GeneDecksing
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Drugs & Compoundsfor SMG1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
SMG1 for compounds About GeneDecksing Browse Tocris compounds for SMG1 1 HMDB Compound for SMG1 About this table Compound Synonyms
CAS
# PubMed Ids Manganese manganese 7439-96-5 --
10/19 Novoseek chemical compound relationships for SMG1 gene (see all 19 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
2-chloro-1,4-dimethoxybenzene
95.6
9
9851835 (2), 9845326 (2)
veratryl alcohol
95.3
50
8203900 (4), 1959597 (3), 7574669 (3), 8639588 (2) (see all 14 )
veratraldehyde
92.8
7
8639588 (1), 7742304 (1), 10749690 (1), 14672691 (1) (see all 6 )
lignin
90.7
46
1397627 (3), 1959597 (1), 8639588 (1), 9136871 (1) (see all 36 )
2-chloro-1,4-benzoquinone
87.9
1
9845326 (1)
anisyl alcohol
82
2
7864643 (1)
manganese
54.4
5
19091553 (1), 12802530 (1), 15006517 (1), 12431010 (1)
phosphatidylinositol
54.1
11
11544179 (2), 16483312 (2), 12356760 (1), 17229728 (1) (see all 9 )
h2o2
51.1
7
7742304 (2), 1959597 (1), 2176851 (1), 8203900 (1)
tween 80
38.9
4
15006517 (1), 14592442 (1)
Search CenterWatch for drugs/clinical trials and news about SMG1
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Transcriptsfor SMG1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SMG1 gene: NM_015092.4 Unigene Cluster for SMG1:
Smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) Hs.460179 [show with all ESTs ] Unigene Representative Sequence: NM_015092 17 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000446231 (uc002dfm.3 ) ENST00000565324 (uc021ted.1 ) ENST00000561940 ENST00000563448 ENST00000562668 ENST00000569764 ENST00000563235 ENST00000566328 ENST00000568038 ENST00000561947 ENST00000565224 ENST00000568239 ENST00000532700 ENST00000569122 ENST00000563836 ENST00000567737 ENST00000389467 (uc010bwa.3 uc010bwb.3 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMG1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMG1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): SMG1 (NM_003720 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMG1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SMG1
Additional cDNA sequence: AB007881.2 AB061371.1 AF186377.1 AF395444.1 AK025794.1 AK057563.1 AK074359.1 AK123332.1 AL833298.1 AY014957.1 BC037335.1 BC047629.1 U32581.2
24/34 DOTS entries (see all 34 ): DT.95169970 DT.40247195
DT.92004155 DT.411389 DT.95160947 DT.92338692 DT.120708827 DT.91684047 DT.91877896 DT.120708798 DT.120708824 DT.91650853 DT.91895539 DT.100731230 DT.120708737 DT.120708751 DT.120708764 DT.120708774 DT.91653589 DT.91883865 DT.100642736 DT.100656089 DT.100671063 DT.120679583 24/151 AceView cDNA sequences (see all 151 ):
BQ706163 BE221924 BE463480 BG249464 AW262941 AA730276 BF507983 BF448084 AI620746 BF196026 AW014488 CD244322 BM728948 AI298710 AI220896 CA976137 AA379952 CD625092 CD626696 CB132094 BM793022 AI924676 BQ024285 AA258675 GeneLoc Exon Structure
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Expression for SMG1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SMG1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCAAAGATTG
About this image SMG1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Reproductive System Early Gonad Testis Somatic Cells Testis Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See SMG1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SMG1 SOURCE GeneReport for Unigene cluster: Hs.460179 UniProtKB/Swiss-Prot: SMG1_HUMAN, Q96Q15 Tissue specificity : Widely expressed, with highest level in heart and skeletal muscle. Expressed in placenta, brain,lung and spleen, but not in liver SABiosciences Custom PCR Arrays for SMG1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SMG1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SMG1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SMG1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SMG1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMG1
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Orthologsfor SMG1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for SMG1 gene from 7/24 species (see all 24 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SMG11
smg-1 homolog, phosphatidylinositol 3-kinase-related more
82.95(n) 93.52(a)
 
416605 XM_414907.3 XP_414907.3
lizard (Anolis carolinensis)
Reptilia
--
--
90(a)
1 ↔ 1
GL343769.1(71314-177633)
African clawed frog (Xenopus laevis)
Amphibia
Xl.235542
Xenopus laevis, Similar to PI-3-kinase-related kinase more
78.11(n)
 
BC043640.1
zebrafish (Danio rerio)
Actinopterygii
smg11
PI-3-kinase-related kinase SMG-1
68.32(n) 74.15(a)
 
569810 NM_001080044.2 NP_001073513.2
fruit fly (Drosophila melanogaster)
Insecta
nonC6
no-on-and-no-off transient C
23(a)
1 ↔ 1
X(6718671-6731573)
worm (Caenorhabditis elegans)
Secernentea
smg-13
kinase
30(a)
 
I(6909615-6921617) --
rice (Oryza sativa)
Liliopsida
--
phosphatidylinositol kinase, putative, expressed
17(a)
1 ↔ 1
3(30255515-30273552)
ENSEMBL Gene Tree for SMG1 (if available)TreeFam Gene Tree for SMG1 (if available)
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Paralogsfor SMG1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SMG1 gene ENSG00000261740 2 4 SIMAP similar genes for SMG1 using alignment to 10 protein entries: SMG1_HUMAN (see all proteins ):DKFZp547E087 LOC101060252 MTOR ATR
SMG1 for paralogs About GeneDecksing 5/14 Pseudogenes.org Pseudogenes for SMG1 (see all 14 )PGOHUM00000262278 PGOHUM00000262279 PGOHUM00000262280 PGOHUM00000262281 PGOHUM00000248786
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Genomic Variantsfor SMG1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
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Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 16 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SMG1 (18816175 - 18937776 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 11 variations for SMG1 11 CNVs : 72495 43923 32094 22624 3994 72494 32093 3112 8816 39177 102222 Human Gene Mutation Database (HGMD) : SMG1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SMG1
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Disorders
/ Diseasesfor SMG1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SMG1 for disorders About GeneDecksing
OMIM gene information: 607032
OMIM disorders : --17 diseases for SMG1 : About MalaCards ullrich congenital muscular dystrophy congenital muscular dystrophy muscular dystrophy metaphyseal dysplasia ataxia telangiectasia rheumatoid arthritis ataxia hyperglycemia liver cancer hepatocellular carcinoma arthritis periodontitis lung cancer hypoxia thyroiditis carcinoma alcoholism 2 diseases from the University of Copenhagen DISEASES database for SMG1 :Lipoid proteinosis Ullrich congenital muscular dystrophy 1 Novoseek disease relationship for SMG1 gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia
35.6
1
16483312 (1)
Export disorders for SMG1 gene to outside databases
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Publicationsfor SMG1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SMG1 gene, integrated from 9 sources (see all 109 ): (articles sorted by number of sources associating them with SMG1) Utopia : connect your pdf to the dynamic world of online information
Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein. (PubMed id 11331269) 1 , 2 , 3, 9 Denning G.... Fields A.P. (2001) Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477) 1 , 2 , 3 Ishikawa K....Ohara O. (1997) Distant N- and C-terminal domains are required for intrinsic kinase activity of SMG-1, a critical component of nonsense-mediated mRNA decay. (PubMed id 17229728) 1 , 3, 9 Morita T....Ohno S. (2007) 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. (PubMed id 19417104) 1 , 2 , 9 Yamashita A....Ohno S. (2009) Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay. (PubMed id 11544179) 1 , 2 , 9 Yamashita A.... Ohno S. (2001) Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. (PubMed id 12554878) 1 , 2 , 9 Chiu S.-Y.... Maquat L.E. (2003) The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large- scale conformational changes controlled by SMG-8. (PubMed id 21245168) 1 , 2 Arias-Palomo E.... Llorca O. (2011) Tti1 and Tel2 are critical factors in mammalian targe t of rapamycin complex assembly. (PubMed id 20427287) 1 , 2 Kaizuka T....Mizushima N. (2010) Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. (PubMed id 16452507) 1 , 2 Kashima I....Ohno S. (2006) The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells. (PubMed id 15175154) 1 , 2 Brumbaugh K.M.... Abraham R.T. (2004)
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External Searches for SMG1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SMG1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing SMG1 gene
(According to HUGE )
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Specialized Databases showing SMG1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for SMG1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SMG1 gene: Search GeneIP for patents involving SMG1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SMG1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies Browse OriGene shRNA RFPs OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SMG1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SMG1 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SMG1 OriGene 3'-UTR Clone for SMG1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SMG1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SMG1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SMG1 OriGene Custom Protein Services for SMG1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMG1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SMG1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SMG1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SMG1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SMG1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SMG1
Antibodies & Assays for SMG1  
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SMG1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMG1
ThermoFisher Antibodies for SMG1
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SMG1
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