ENSMUSG00000040451


Mus musculus

Features
Gene ID: ENSMUSG00000040451
  
Biological name :Sgms1
  
Synonyms : Phosphatidylcholine:ceramide cholinephosphotransferase 1 / Q8VCQ6 / Sgms1
  
Possible biological names infered from orthology : sphingomyelin synthase 1
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: C1
Gene start: 32122727
Gene end: 32389714
  
Corresponding Affymetrix probe sets: 10467068 (MoGene1.0st)   1426575_at (Mouse Genome 430 2.0 Array)   1426576_at (Mouse Genome 430 2.0 Array)   1436499_at (Mouse Genome 430 2.0 Array)   1442079_at (Mouse Genome 430 2.0 Array)   1445103_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000119869
Ensembl peptide - ENSMUSP00000117336
Ensembl peptide - ENSMUSP00000123395
Ensembl peptide - ENSMUSP00000097114
Ensembl peptide - ENSMUSP00000114683
Ensembl peptide - ENSMUSP00000115785
NCBI entrez gene - 208449     See in Manteia.
MGI - MGI:2444110
RefSeq - XM_017318105
RefSeq - XM_006526818
RefSeq - XM_006526819
RefSeq - XM_006526820
RefSeq - XM_011247201
RefSeq - XM_011247202
RefSeq - XM_011247203
RefSeq - NM_001168525
RefSeq - NM_001168526
RefSeq - NM_144792
RefSeq Peptide - NP_659041
RefSeq Peptide - NP_001161997
RefSeq Peptide - NP_001161998
swissprot - E3W996
swissprot - Q8VCQ6
swissprot - D3YV54
Ensembl - ENSMUSG00000040451
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sgms1ENSDARG00000029621Danio rerio
 zgc:91976ENSDARG00000057053Danio rerio
 SGMS1ENSGALG00000003701Gallus gallus
 SGMS1ENSG00000198964Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sgms2 / Q9D4B1 / Phosphatidylcholine:ceramide cholinephosphotransferase 2 / Q8NHU3* / sphingomyelin synthase 2*ENSMUSG0000005093150
Samd8 / Q9DA37 / sterile alpha motif domain containing 8 / Q96LT4*ENSMUSG0000002177034


Protein motifs (from Interpro)
Interpro ID Name
 IPR001660  Sterile alpha motif domain
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR025749  Sphingomyelin synthase-like domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0006686 sphingomyelin biosynthetic process ISS
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0046513 ceramide biosynthetic process ISO
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IDA
 cellular_componentGO:0000138 Golgi trans cisterna ISO
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030173 integral component of Golgi membrane ISO
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IBA
 molecular_functionGO:0002950 ceramide phosphoethanolamine synthase activity ISO
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0033188 sphingomyelin synthase activity IMP
 molecular_functionGO:0047493 ceramide cholinephosphotransferase activity ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0001559 hyperglycemia "abnormally high concentration of glucose in the blood; generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0001783 decreased white fat amount "reduced quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0002599 increased mean platelet volume "increased content of platelet cells over the norm" [cml:Cathleen M. Lutz, Mouse Genome Informatics Curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0002891 increased insulin sensitivity "greater ability to clear glucose from the bloodstream when given insulin than normal; can result in hypoglycemia" [RGD:Rat Genome Database submission]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0002942 decreased circulating alanine transaminase level "decreased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0003009 abnormal cytokine secretion "impairment or increase of the cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, smb:Susan M. Bello , Mouse Genome Informatics Curator]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0003059 decreased insulin secretion "less than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0003179 decreased platelet count "fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0003960 increased lean body mass "more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005018 decreased T cell number "fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tmem173tm1Gnb/Tmem173tm1Gnb
Genetic Background: involves: 129P2/OlaHsd

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008040 decreased NK T cell number "reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments" [GO:0001865]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008045 decreased NK cell number "reduction in the number of non-T, non-B lymphocytes, having a granular morphology and which are important in innate immunity to viruses and other intracellular pathogens; in addition, these cells can kill certain tumor cells" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008079 decreased CD8-positive T cell number "reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008554 decreased circulating tumor necrosis factor level "reduction in the amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0008561 decreased tumor necrosis factor secretion "reduction in the production or release of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MESH:D12.644.276.374.500.800]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0008597 decreased circulating interleukin-6 level "reduction 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]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0008706 decreased interleukin-6 secretion "reduction in the production or release 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]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0008713 abnormal cytokine level "deviation from the normal levels of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0009823 abnormal sphingomyelin level "deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010052 increased grip strength "greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010092 increased circulating magnesium level "an elevation in the blood concentration of magnesium" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010850 increased effector memory CD8-positive, alpha-beta T cell number "increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000913, GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0012232 abnormal ceramide level 
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Allelic Composition: Mybpc3DBA/2J/Mybpc3DBA/2J,Myh7DBA/2J/Myh7DBA/2J
Genetic Background: DBA/2J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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