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SMG1 (SMG1 nonsense mediated mRNA decay associated PI3K related kinase)

Identity

Alias (NCBI)61E3.4
ATX
LIP
HGNC (Hugo) SMG1
HGNC Alias symbLIP
KIAA0421
ATX
HGNC Alias namephosphatidylinositol 3-kinase-related kinase
HGNC Previous namesmg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)
 SMG1 phosphatidylinositol 3-kinase-related kinase
 SMG1, nonsense mediated mRNA decay associated PI3K related kinase
LocusID (NCBI) 23049
Atlas_Id 43495
Location 16p12.3  [Link to chromosome band 16p12]
Location_base_pair Starts at 18804860 and ends at 18926408 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACAA2 (18q21.1) / SMG1 (16p12.3)BPTF (17q24.2) / SMG1 (16p12.3)KCNC3 (19q13.33) / SMG1 (16p12.3)
SMG1 (16p12.3) / ANO3 (11p14.2)SMG1 (16p12.3) / ARL6IP1 (16p12.3)SMG1 (16p12.3) / COMMD1 (2p15)
SMG1 (16p12.3) / CYP2C9 (10q23.33)SMG1 (16p12.3) / DOCK3 (3p21.2)SMG1 (16p12.3) / KPNA3 (13q14.2)
SMG1 (16p12.3) / SLC25A3 (12q23.1)SMG1 16p12.3 / ANO3 11p14.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

 

Nomenclature
HGNC (Hugo)SMG1   30045
Cards
Entrez_Gene (NCBI)SMG1    SMG1 nonsense mediated mRNA decay associated PI3K related kinase
Aliases61E3.4; ATX; LIP
GeneCards (Weizmann)SMG1
Ensembl hg19 (Hinxton)ENSG00000157106 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157106 [Gene_View]  ENSG00000157106 [Sequence]  chr16:18804860-18926408 [Contig_View]  SMG1 [Vega]
ICGC DataPortalENSG00000157106
TCGA cBioPortalSMG1
AceView (NCBI)SMG1
Genatlas (Paris)SMG1
SOURCE (Princeton)SMG1
Genetics Home Reference (NIH)SMG1
Genomic and cartography
GoldenPath hg38 (UCSC)SMG1  -     chr16:18804860-18926408 -  16p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMG1  -     16p12.3   [Description]    (hg19-Feb_2009)
GoldenPathSMG1 - 16p12.3 [CytoView hg19]  SMG1 - 16p12.3 [CytoView hg38]
ImmunoBaseENSG00000157106
Genome Data Viewer NCBISMG1 [Mapview hg19]  
OMIM607032   
Gene and transcription
Genbank (Entrez)AB007881 AB061371 AF186377 AF395444 AK025794
RefSeq transcript (Entrez)NM_015092
Consensus coding sequences : CCDS (NCBI)SMG1
Gene ExpressionSMG1 [ NCBI-GEO ]   SMG1 [ EBI - ARRAY_EXPRESS ]   SMG1 [ SEEK ]   SMG1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMG1 [ Firebrowse - Broad ]
GenevisibleExpression of SMG1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23049
GTEX Portal (Tissue expression)SMG1
Human Protein AtlasENSG00000157106-SMG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96Q15   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96Q15  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96Q15
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ96Q15
Domaine pattern : Prosite (Expaxy)FAT (PS51189)    FATC (PS51190)    PI3_4_KINASE_2 (PS00916)    PI3_4_KINASE_3 (PS50290)   
Domains : Interpro (EBI)ARM-type_fold    FATC_dom    Kinase-like_dom_sf    PI3/4_kinase_cat_dom    PI3/4_kinase_cat_sf    PI3/4_kinase_CS    PIK_FAT    SMG1    SMG1_N    SMG1_PIKKc   
Domain families : Pfam (Sanger)FATC (PF02260)    PI3_PI4_kinase (PF00454)    SMG1 (PF15785)    SMG1_N (PF17229)   
Domain families : Pfam (NCBI)pfam02260    pfam00454    pfam15785    pfam17229   
Domain families : Smart (EMBL)FATC (SM01343)  PI3Kc (SM00146)  
Conserved Domain (NCBI)SMG1
PDB (RSDB)6L53    6L54    6SYT    6Z3R   
PDB Europe6L53    6L54    6SYT    6Z3R   
PDB (PDBSum)6L53    6L54    6SYT    6Z3R   
PDB (IMB)6L53    6L54    6SYT    6Z3R   
Structural Biology KnowledgeBase6L53    6L54    6SYT    6Z3R   
SCOP (Structural Classification of Proteins)6L53    6L54    6SYT    6Z3R   
CATH (Classification of proteins structures)6L53    6L54    6SYT    6Z3R   
SuperfamilyQ96Q15
AlphaFold pdb e-kbQ96Q15   
Human Protein Atlas [tissue]ENSG00000157106-SMG1 [tissue]
HPRD06123
Protein Interaction databases
DIP (DOE-UCLA)Q96Q15
IntAct (EBI)Q96Q15
BioGRIDSMG1
STRING (EMBL)SMG1
ZODIACSMG1
Ontologies - Pathways
QuickGOQ96Q15
Ontology : AmiGOnuclear-transcribed mRNA catabolic process, nonsense-mediated decay  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  RNA binding  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein kinase C activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  DNA repair  mRNA export from nucleus  negative regulation of macroautophagy  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  TORC1 complex  TORC2 complex  regulation of telomere maintenance  TORC1 signaling  telomeric DNA binding  protein autophosphorylation  phosphatidylinositol phosphate biosynthetic process  metal ion binding  protein serine kinase activity  protein threonine kinase activity  regulation of response to DNA damage stimulus  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, nonsense-mediated decay  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  nuclear-transcribed mRNA catabolic process, nonsense-mediated decay  RNA binding  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein kinase C activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  DNA repair  mRNA export from nucleus  negative regulation of macroautophagy  peptidyl-serine phosphorylation  peptidyl-serine phosphorylation  TORC1 complex  TORC2 complex  regulation of telomere maintenance  TORC1 signaling  telomeric DNA binding  protein autophosphorylation  phosphatidylinositol phosphate biosynthetic process  metal ion binding  protein serine kinase activity  protein threonine kinase activity  regulation of response to DNA damage stimulus  
Pathways : KEGGmRNA surveillance pathway   
NDEx NetworkSMG1
Atlas of Cancer Signalling NetworkSMG1
Wikipedia pathwaysSMG1
Orthology - Evolution
OrthoDB23049
GeneTree (enSembl)ENSG00000157106
Phylogenetic Trees/Animal Genes : TreeFamSMG1
Homologs : HomoloGeneSMG1
Homology/Alignments : Family Browser (UCSC)SMG1
Gene fusions - Rearrangements
Fusion : MitelmanSMG1/ANO3 [16p12.3/11p14.2]  
Fusion : QuiverSMG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMG1
dbVarSMG1
ClinVarSMG1
MonarchSMG1
1000_GenomesSMG1 
Exome Variant ServerSMG1
GNOMAD BrowserENSG00000157106
Varsome BrowserSMG1
ACMGSMG1 variants
VarityQ96Q15
Genomic Variants (DGV)SMG1 [DGVbeta]
DECIPHERSMG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMG1 
Mutations
ICGC Data PortalSMG1 
TCGA Data PortalSMG1 
Broad Tumor PortalSMG1
OASIS PortalSMG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMG1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMG1
Mutations and Diseases : HGMDSMG1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMG1
DgiDB (Drug Gene Interaction Database)SMG1
DoCM (Curated mutations)SMG1
CIViC (Clinical Interpretations of Variants in Cancer)SMG1
Cancer3DSMG1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607032   
Orphanet
DisGeNETSMG1
MedgenSMG1
Genetic Testing Registry SMG1
NextProtQ96Q15 [Medical]
GENETestsSMG1
Target ValidationSMG1
Huge Navigator SMG1 [HugePedia]
ClinGenSMG1
Clinical trials, drugs, therapy
MyCancerGenomeSMG1
Protein Interactions : CTDSMG1
Pharm GKB GenePA164725852
PharosQ96Q15
Clinical trialSMG1
Miscellaneous
canSAR (ICR)SMG1
HarmonizomeSMG1
DataMed IndexSMG1
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:13 CEST 2021
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