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

Gene ID: 67630, updated on 2-Nov-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, Nov 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 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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