ENSMUSG00000030655


Mus musculus

Features
Gene ID: ENSMUSG00000030655
  
Biological name :Smg1
  
Synonyms : Q8BKX6 / Serine/threonine-protein kinase SMG1 / Smg1
  
Possible biological names infered from orthology : Q96Q15 / SMG1, nonsense mediated mRNA decay associated PI3K related kinase
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: F1
Gene start: 118131308
Gene end: 118243670
  
Corresponding Affymetrix probe sets: 10567229 (MoGene1.0st)   1428539_at (Mouse Genome 430 2.0 Array)   1442925_at (Mouse Genome 430 2.0 Array)   1449755_at (Mouse Genome 430 2.0 Array)   1455657_at (Mouse Genome 430 2.0 Array)   1457262_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000032891
Ensembl peptide - ENSMUSP00000136406
Ensembl peptide - ENSMUSP00000137172
Ensembl peptide - ENSMUSP00000137592
NCBI entrez gene - 233789     See in Manteia.
MGI - MGI:1919742
RefSeq - XM_006507678
RefSeq - NM_001031814
RefSeq - XM_006507677
RefSeq Peptide - NP_001026984
swissprot - J3QMR1
swissprot - Q8BKX6
swissprot - J3QQ22
swissprot - J3QPA7
Ensembl - ENSMUSG00000030655
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smg1ENSDARG00000054570Danio rerio
 SMG1ENSGALG00000006829Gallus gallus
 SMG1ENSG00000157106Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mtor / Q9JLN9 / Serine/threonine-protein kinase mTOR / P42345* / mechanistic target of rapamycin kinase*ENSMUSG0000002899112


Protein motifs (from Interpro)
Interpro ID Name
 IPR000403  Phosphatidylinositol 3-/4-kinase, catalytic domain
 IPR003152  FATC domain
 IPR011009  Protein kinase-like domain superfamily
 IPR011989  Armadillo-like helical
 IPR014009  PIK-related kinase
 IPR016024  Armadillo-type fold
 IPR018936  Phosphatidylinositol 3/4-kinase, conserved site
 IPR031559  Serine/threonine-protein kinase SMG1
 IPR035175  Serine/threonine-protein kinase SMG1, N-terminal
 IPR036940  Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay ISO
 biological_processGO:0006281 DNA repair IBA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0032204 regulation of telomere maintenance IEA
 biological_processGO:0046777 protein autophosphorylation IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:2001020 regulation of response to DNA damage stimulus IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity ISO
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IBA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0042162 telomeric DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000116 abnormal tooth development "anomalous formation of the teeth" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0001257 increased body length "increased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0001264 increased body size "larger than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33401]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0001634 internal hemorrhage "blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0001889 delayed brain development "the delay or slower progress of the growth and differentiation of the brain" [J:81818, il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
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Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002023 B cell derived lymphoma "heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002027 lung adenocarcinoma "malignant neoplasm of epithelial cells in the lung" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:18542]
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Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002100 abnormal tooth morphology "atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002499 chronic inflammation "persistent inflammatory response, often caused by persistent infection or during an autoimmune response" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004188 delayed embryo turning "completion of axial rotation occurs later than in controls but is eventually completed" [smb:Susan M Bello, Mouse Genome Informatics Curator ""]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0008596 increased circulating interleukin-6 level "increase in the amount in the blood of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0008642 decreased circulating interleukin-1 beta level "reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0009782 abnormal basicranium angle "a deviation from the expected angle formed by a line representing the floor of the anterior cranial fossa intersecting a line representing the axis of the clivus of the base of the skull" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0010208 prognathia "abnormal protrusion of the mandible relative to the facial skeleton and soft tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0011095 complete embryonic lethality between implantation and placentation "death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)" [MGI:csmith]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
Show

Allelic Composition: Kcnmb1tm1Ltor/Kcnmb1tm1Ltor
Genetic Background: Not Specified

 MP:0013504 increased embryonic tissue cell apoptosis "increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death" [MGI:csmith]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0030241 absent optic pit "absence of either or both of the two pits that appear bilaterally in the region destined to become the forebrain as the cranial neural folds fuse; these optic pits or sulci continue to deepen laterally and bulge from the two sides of the forebrain to become the optic vesicles" [MGI:anna]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(CAG-Upp1,-GFP)Gp/Gt(ROSA)26Sor+
Genetic Background: involves: C57BL/6 * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020495 Smg8 / Q8VE18 / Protein SMG8 / Q8ND04* / SMG8, nonsense mediated mRNA decay factor*  / complex
 ENSMUSG00000002210 Smg9 / Q9DB90 / Protein SMG9 / Q9H0W8* / SMG9, nonsense mediated mRNA decay factor*  / complex
 ENSMUSG00000058301 Upf1 / Q9EPU0 / UPF1 regulator of nonsense transcripts homolog (yeast) / Q92900* / UPF1, RNA helicase and ATPase*  / complex






 

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