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    Samd8 sterile alpha motif domain containing 8 [ Mus musculus (house mouse) ]

    Gene ID: 67630, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Samd8provided by MGI
    Official Full Name
    sterile alpha motif domain containing 8provided by MGI
    Primary source
    MGI:MGI:1914880
    See related
    Ensembl:ENSMUSG00000021770 AllianceGenome:MGI:1914880
    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
    SMSr; 1110053F04Rik; 1700010P07Rik
    Summary
    Enables ceramide phosphoethanolamine synthase activity. Acts upstream of or within ceramide biosynthetic process and ceramide phosphoethanolamine biosynthetic process. Predicted to be located in cytosol and endoplasmic reticulum. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Orthologous to human SAMD8 (sterile alpha motif domain containing 8). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 10.0), CNS E18 (RPKM 6.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Samd8 in Genome Data Viewer
    Location:
    14 A3; 14 11.86 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (21800599..21848794)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (21750531..21798726)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene dual specificity phosphatase 13B Neighboring gene STARR-positive B cell enhancer ABC_E10820 Neighboring gene predicted gene 15935 Neighboring gene dual specificity phosphatase 13a Neighboring gene predicted gene, 23502 Neighboring gene voltage-dependent anion channel 2 Neighboring gene catechol-O-methyltransferase domain containing 1

    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. Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease. Chiang YP, et al. J Biol Chem, 2023 Sep. PMID 37586586, Free PMC Article
    2. Functional characterization of enzymes catalyzing ceramide phosphoethanolamine biosynthesis in mice. Bickert A, et al. J Lipid Res, 2015 Apr. PMID 25667419, Free PMC Article
    3. All members in the sphingomyelin synthase gene family have ceramide phosphoethanolamine synthase activity. Ding T, et al. J Lipid Res, 2015 Mar. PMID 25605874, Free PMC Article
    4. Identification of a family of animal sphingomyelin synthases. Huitema K, et al. EMBO J, 2004 Jan 14. PMID 14685263, Free PMC Article
    5. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease.
      Title: Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease.
    2. study reveals that all mouse SMS family members (SMSr, SMS1, and SMS2) have CPE synthase activity
      Title: All members in the sphingomyelin synthase gene family have ceramide phosphoethanolamine synthase activity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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

    • MGC118303

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ceramide cholinephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide phosphoethanolamine synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ceramide phosphoethanolamine synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sphingomyelin synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ceramide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within ceramide phosphoethanolamine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within ceramide phosphoethanolamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ceramide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of ceramide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sphingomyelin biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sphingomyelin synthase-related protein 1
    Names
    CPE synthase
    GrailEXP prediction
    SAM domain-containing protein 8
    ceramide phosphoethanolamine synthase
    sterile alpha motif domain-containing protein 8
    NP_001346882.1
    NP_001346883.1
    NP_080559.1

    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_001359953.1 → NP_001346882.1  sphingomyelin synthase-related protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC151533, AK147528, BQ176258
      Consensus CDS
      CCDS88594.1
      UniProtKB/TrEMBL
      Q3UH82
      Related
      ENSMUSP00000112803.2, ENSMUST00000119430.3
      Conserved Domains (2) summary
      cd09515
      Location:9 → 77
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      pfam14360
      Location:292 → 365
      PAP2_C; PAP2 superfamily C-terminal

    2. NM_001359954.1 → NP_001346883.1  sphingomyelin synthase-related protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC151533, AK147528, BQ176258, BY148402, BY204342
      UniProtKB/TrEMBL
      Q497L5
      Conserved Domains (2) summary
      cd09515
      Location:26 → 94
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      pfam14360
      Location:309 → 382
      PAP2_C; PAP2 superfamily C-terminal

    3. NM_026283.3 → NP_080559.1  sphingomyelin synthase-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_080559.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform 1.
      Source sequence(s)
      AC151533, AK006211, BQ176258
      Consensus CDS
      CCDS26866.1
      UniProtKB/Swiss-Prot
      Q9DA37
      UniProtKB/TrEMBL
      Q14AQ4
      Related
      ENSMUSP00000022292.4, ENSMUST00000022292.10
      Conserved Domains (3) summary
      cd09515
      Location:72 → 140
      SAM_SGMS1-like; SAM domain of sphingomyelin synthase related subfamily
      smart00454
      Location:75 → 140
      SAM; Sterile alpha motif
      pfam14360
      Location:355 → 428
      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_000080.7 Reference GRCm39 C57BL/6J

      Range
      21800599..21848794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DA37.1 GenPept UniProtKB/Swiss-Prot:Q9DA37

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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