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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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