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    Sgms1 sphingomyelin synthase 1 [ Mus musculus (house mouse) ]

    Gene ID: 208449, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sgms1provided by MGI
    Official Full Name
    sphingomyelin synthase 1provided by MGI
    Primary source
    MGI:MGI:2444110
    See related
    Ensembl:ENSMUSG00000040451 AllianceGenome:MGI:2444110
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mob; Sms1; Sor1; Tmem23; 9530058O11Rik
    Summary
    Enables ceramide phosphoethanolamine synthase activity and sphingomyelin synthase activity. Involved in sphingomyelin biosynthetic process. Acts upstream of or within ceramide biosynthetic process. Predicted to be located in Golgi trans cisterna. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; ear; limb; and respiratory system. Orthologous to human SGMS1 (sphingomyelin synthase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 37.1), genital fat pad adult (RPKM 8.2) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sgms1 in Genome Data Viewer
    Location:
    19 C1; 19 26.68 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (32100127..32367285, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (32122727..32389885, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene APOBEC1 complementation factor Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E7645 Neighboring gene N-acylsphingosine amidohydrolase 2 Neighboring gene VISTA enhancer mm1654 Neighboring gene coiled-coil domain containing 111 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E5695 Neighboring gene STARR-positive B cell enhancer ABC_E4274 Neighboring gene STARR-seq mESC enhancer starr_45930 Neighboring gene STARR-seq mESC enhancer starr_45932 Neighboring gene STARR-seq mESC enhancer starr_45936 Neighboring gene STARR-seq mESC enhancer starr_45939 Neighboring gene STARR-positive B cell enhancer ABC_E9456 Neighboring gene Sgms1 opposite strand transcript 1 Neighboring gene predicted gene, 38616 Neighboring gene cytokine induced apoptosis inhibitor 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential. Chen J, et al. Hear Res, 2024 Sep 15. PMID 39067415
    2. CD4+ T-cell dysfunctions through the impaired lipid rafts ameliorate concanavalin A-induced hepatitis in sphingomyelin synthase 1-knockout mice. Dong L, et al. Int Immunol, 2012 May. PMID 22345277
    3. Increased oxidative stress impairs adipose tissue function in sphingomyelin synthase 1 null mice. Yano M, et al. PLoS One, 2013. PMID 23593476, Free PMC Article
    4. Inhibition of sphingomyelin synthase 1 affects ceramide accumulation and hydrogen peroxide-induced apoptosis in Neuro-2a cells. Tu R, et al. Neuroreport, 2016 Sep 7. PMID 27391427
    5. Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice. Wittmann A, et al. PLoS One, 2016. PMID 27788151, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential.
      Title: A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential.
    2. Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
      Title: Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
    3. A novel mechanism of thrombocytopenia by PS exposure through TMEM16F in sphingomyelin synthase 1 deficiency.
      Title: A novel mechanism of thrombocytopenia by PS exposure through TMEM16F in sphingomyelin synthase 1 deficiency.
    4. Sphingomyelin Biosynthesis Is Essential for Phagocytic Signaling during Mycobacterium tuberculosis Host Cell Entry.
      Title: Sphingomyelin Biosynthesis Is Essential for Phagocytic Signaling during Mycobacterium tuberculosis Host Cell Entry.
    5. Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
      Title: Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
    6. Investigated role of sphingomyelin synthase 1 (SMS1) and sphingomyelin synthase 2 (SMS2) in osteoblast differentiation in order to better understand the role SMS1 and SMS2 play in skeletal development.
      Title: Deficiency of sphingomyelin synthase 1 but not sphingomyelin synthase 2 reduces bone formation due to impaired osteoblast differentiation.
    7. optively transferred wide-type B cells partially recovered B-cell activation and autoantibody production in SMS1 deficient bm12-induced lupus mice. Moreover, the SMS1 mRNA level in B cells of SLE patients was increased and positively correlated with the serum anti-dsDNA level, IgG and globulin titers.
      Title: Sphingomyelin synthase 1 enhances BCR signaling to promote lupus-like autoimmune response.
    8. 2-Hydroxy-oleic acid inhibited rather than activated recombinant SMS1 (rSMS1) and rSMS2 in a dose-dependent fashion.
      Title: 2-Hydroxy-oleic acid does not activate sphingomyelin synthase activity.
    9. Knockdown of SMS1 promotes lysosomal degradation of BACE1 and attenuates Alzheimer's disease-like pathology in transgenic mice.
      Title: Inhibition of sphingomyelin synthase 1 ameliorates alzheimer-like pathology in APP/PS1 transgenic mice through promoting lysosomal degradation of BACE1.
    10. SMS1 contributed to sphingomyelin generation inducing Japanese encephalitis virus attachment and infection.
      Title: Sphingomyelin generated by sphingomyelin synthase 1 is involved in attachment and infection with Japanese encephalitis virus.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC30540

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ceramide cholinephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide cholinephosphotransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ceramide cholinephosphotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables ceramide phosphoethanolamine synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ceramide phosphoethanolamine synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sphingomyelin synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sphingomyelin synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sphingomyelin synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sphingomyelin synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sphingomyelin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingomyelin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sphingomyelin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sphingomyelin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in Golgi trans cisterna ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylcholine:ceramide cholinephosphotransferase 1
    Names
    protein Mob
    transmembrane protein 23
    NP_001161997.1
    NP_001161998.1
    NP_001349352.1
    NP_659041.3
    XP_006526881.1
    XP_006526882.1
    XP_006526883.1
    XP_011245504.1
    XP_011245505.1
    XP_011245507.1
    XP_017173594.1
    XP_030106691.1
    XP_030106692.1
    XP_030106693.1
    XP_030106695.1
    XP_030106696.1
    XP_030106697.1

    NCBI Reference Sequences (RefSeq)

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    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)

    1. NM_001168525.1 → NP_001161997.1  phosphatidylcholine:ceramide cholinephosphotransferase 1

      See identical proteins and their annotated locations for NP_001161997.1

      Status: VALIDATED

      Source sequence(s)
      BC076618, BP768024
      Consensus CDS
      CCDS29750.1
      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Related
      ENSMUSP00000117336.2, ENSMUST00000142618.8
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    2. NM_001168526.1 → NP_001161998.1  phosphatidylcholine:ceramide cholinephosphotransferase 1

      See identical proteins and their annotated locations for NP_001161998.1

      Status: VALIDATED

      Source sequence(s)
      AC113485, AK146782, AK152312, BP768024
      Consensus CDS
      CCDS29750.1
      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Related
      ENSMUSP00000123395.2, ENSMUST00000151289.9
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    3. NM_001362423.1 → NP_001349352.1  phosphatidylcholine:ceramide cholinephosphotransferase 1

      Status: VALIDATED

      Source sequence(s)
      AC113485, AC115752, AC124323, AC158130, BP768024
      Consensus CDS
      CCDS29750.1
      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    4. NM_144792.5 → NP_659041.3  phosphatidylcholine:ceramide cholinephosphotransferase 1

      See identical proteins and their annotated locations for NP_659041.3

      Status: VALIDATED

      Source sequence(s)
      AC115752, AK146782, AK153406, BP768024
      Consensus CDS
      CCDS29750.1
      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Related
      ENSMUSP00000097114.4, ENSMUST00000099514.10
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      32100127..32367285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247202.3 → XP_011245504.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011245504.1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    2. XM_030250831.2 → XP_030106691.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    3. XM_030250836.2 → XP_030106696.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    4. XM_030250833.2 → XP_030106693.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    5. XM_030250832.1 → XP_030106692.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    6. XM_030250837.1 → XP_030106697.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    7. XM_011247203.3 → XP_011245505.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011245505.1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    8. XM_006526819.3 → XP_006526882.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006526882.1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    9. XM_006526818.5 → XP_006526881.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006526881.1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    10. XM_030250835.1 → XP_030106695.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    11. XM_006526820.5 → XP_006526883.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006526883.1

      UniProtKB/Swiss-Prot
      Q3UIS8, Q5J3R0, Q8C464, Q8C583, Q8C652, Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282 → 355
      PAP2_C; PAP2 superfamily C-terminal

    12. XM_011247205.3 → XP_011245507.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A494BA77
      Conserved Domains (1) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase

    13. XM_017318105.3 → XP_017173594.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E3W996
      Related
      ENSMUSP00000119869.2, ENSMUST00000152340.8
      Conserved Domains (1) summary
      cd09514
      Location:7 → 78
      SAM_SGMS1; SAM domain of sphingomyelin synthase

    RNA

    1. XR_001782565.2 RNA Sequence

    2. XR_001782566.2 RNA Sequence

    3. XR_004940129.1 RNA Sequence

    4. XR_004940128.1 RNA Sequence

    5. XR_003952767.2 RNA Sequence

    6. XR_003952764.2 RNA Sequence

    7. XR_003952765.2 RNA Sequence

      Related
      ENSMUST00000236410.2

    8. XR_003952766.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VCQ6.2 GenPept UniProtKB/Swiss-Prot:Q8VCQ6

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