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

    Gene ID: 208449, updated on 6-Sep-2021

    Summary

    Official Symbol
    Sgms1provided by MGI
    Official Full Name
    sphingomyelin synthase 1provided by MGI
    Primary source
    MGI:MGI:2444110
    See related
    Ensembl:ENSMUSG00000040451
    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
    SM; Mob; Sms1; Sor1; SMS1b; SMS1g; C80702; Tmem23; AI841905; 9530058O11Rik
    Expression
    Broad expression in testis adult (RPKM 37.1), genital fat pad adult (RPKM 8.2) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Sgms1 in Genome Data Viewer
    Location:
    19; 19 C1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (32197217..32462944, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene N-acylsphingosine amidohydrolase 2 Neighboring gene VISTA enhancer mm1654 Neighboring gene coiled-coil domain containing 111 pseudogene Neighboring gene RIKEN cDNA 2700046G09 gene Neighboring gene predicted gene, 38616 Neighboring gene cytokine induced apoptosis inhibitor 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sphingomyelin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    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 integral component of Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in integral component of Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    is_active_in integral component of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001168525.1NP_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
      Q8VCQ6
      Related
      ENSMUSP00000117336.2, ENSMUST00000142618.8
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    2. NM_001168526.1NP_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
      Q8VCQ6
      Related
      ENSMUSP00000123395.2, ENSMUST00000151289.9
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    3. NM_001362423.1NP_001349352.1  phosphatidylcholine:ceramide cholinephosphotransferase 1

      Status: VALIDATED

      Source sequence(s)
      AC113485, AC115752, AC124323, AC158130, BP768024
      Consensus CDS
      CCDS29750.1
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    4. NM_144792.5NP_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
      Q8VCQ6
      Related
      ENSMUSP00000097114.4, ENSMUST00000099514.10
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_011247202.3XP_011245504.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011245504.1

      UniProtKB/Swiss-Prot
      Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    2. XM_030250831.2XP_030106691.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    3. XM_030250836.2XP_030106696.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    4. XM_030250833.2XP_030106693.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    5. XM_030250832.1XP_030106692.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    6. XM_030250837.1XP_030106697.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    7. XM_011247203.3XP_011245505.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011245505.1

      UniProtKB/Swiss-Prot
      Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    8. XM_006526819.3XP_006526882.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006526882.1

      UniProtKB/Swiss-Prot
      Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    9. XM_006526818.5XP_006526881.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006526881.1

      UniProtKB/Swiss-Prot
      Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    10. XM_030250835.1XP_030106695.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    11. XM_006526820.5XP_006526883.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_006526883.1

      UniProtKB/Swiss-Prot
      Q8VCQ6
      Conserved Domains (2) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:282355
      PAP2_C; PAP2 superfamily C-terminal
    12. XM_011247205.3XP_011245507.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

      Conserved Domains (1) summary
      cd09514
      Location:778
      SAM_SGMS1; SAM domain of sphingomyelin synthase
    13. XM_017318105.3XP_017173594.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/Swiss-Prot
      Q8VCQ6
      Related
      ENSMUSP00000119869.2, ENSMUST00000152340.8
      Conserved Domains (1) summary
      cd09514
      Location:778
      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

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