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    Smpdl3a sphingomyelin phosphodiesterase, acid-like 3A [ Mus musculus (house mouse) ]

    Gene ID: 57319, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Smpdl3aprovided by MGI
    Official Full Name
    sphingomyelin phosphodiesterase, acid-like 3Aprovided by MGI
    Primary source
    MGI:MGI:1931437
    See related
    Ensembl:ENSMUSG00000019872 AllianceGenome:MGI:1931437
    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
    ASM3A; ASML3; ASML3A; 0610010C24Rik
    Summary
    Predicted to enable phosphoric diester hydrolase activity and zinc ion binding activity. Involved in negative regulation of cGAS/STING signaling pathway. Located in extracellular space. Is expressed in cerebral cortex ventricular layer; ovary; and ureteric tip. Orthologous to human SMPDL3A (sphingomyelin phosphodiesterase acid like 3A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney adult (RPKM 174.4), colon adult (RPKM 128.9) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Smpdl3a in Genome Data Viewer
    Location:
    10 B4; 10 29.25 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (57670640..57687926)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (57794544..57811830)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 10_506.1 Neighboring gene fatty acid binding protein 7, brain Neighboring gene predicted gene, 53585 Neighboring gene STARR-seq mESC enhancer starr_26752 Neighboring gene double homeobox protein 4-like protein 4 Neighboring gene predicted gene, 53605

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Structural Basis for Nucleotide Hydrolysis by the Acid Sphingomyelinase-like Phosphodiesterase SMPDL3A. Gorelik A, et al. J Biol Chem, 2016 Mar 18. PMID 26792860, Free PMC Article
    2. SMPDL3A is a cGAMP-degrading enzyme induced by LXR-mediated lipid metabolism to restrict cGAS-STING DNA sensing. Hou Y, et al. Immunity, 2023 Nov 14. PMID 37890481
    3. Sphingomyelin phosphodiesterase acid-like 3A (SMPDL3A) is a novel nucleotide phosphodiesterase regulated by cholesterol in human macrophages. Traini M, et al. J Biol Chem, 2014 Nov 21. PMID 25288789, Free PMC Article
    4. The Lipid-Modifying Enzyme SMPDL3B Negatively Regulates Innate Immunity. Heinz LX, et al. Cell Rep, 2015 Jun 30. PMID 26095358, Free PMC Article
    5. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Clapp J, et al. Am J Hum Genet, 2007 Aug. PMID 17668377, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The structural basis for SMPDL3A substrate specificity resolve by X-ray crystallography.
      Title: Structural Basis for Nucleotide Hydrolysis by the Acid Sphingomyelinase-like Phosphodiesterase SMPDL3A.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoric diester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphoric diester hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphoric diester hydrolase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT enables sphingomyelin phosphodiesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cGAS/STING signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleoside triphosphate catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nucleoside triphosphate catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in sphingomyelin catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cyclic GMP-AMP phosphodiesterase SMPDL3A
    Names
    2',3'-cGAMP phosphodiesterase SMPDL3A
    ASM-like phosphodiesterase 3a
    acid sphingomyelinase-like phosphodiesterase 3a
    NP_065586.3

    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_020561.2 → NP_065586.3  cyclic GMP-AMP phosphodiesterase SMPDL3A precursor

      See identical proteins and their annotated locations for NP_065586.3

      Status: VALIDATED

      Source sequence(s)
      AC168055, AK151683
      Consensus CDS
      CCDS23857.1
      UniProtKB/Swiss-Prot
      P70158, Q3U8C2
      Related
      ENSMUSP00000020022.8, ENSMUST00000020022.8
      Conserved Domains (2) summary
      cd00842
      Location:37 → 333
      MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain
      pfam00149
      Location:73 → 294
      Metallophos; Calcineurin-like phosphoesterase

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      57670640..57687926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P70158.2 GenPept UniProtKB/Swiss-Prot:P70158

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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