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    Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 [ Mus musculus (house mouse) ]

    Gene ID: 238011, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Enpp7provided by MGI
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase 7provided by MGI
    Primary source
    MGI:MGI:3027917
    See related
    Ensembl:ENSMUSG00000046697 AllianceGenome:MGI:3027917
    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
    Gm254; NPP-7; E-NPP 7; Alk-SMase
    Summary
    Enables sphingomyelin phosphodiesterase activity. Involved in several processes, including fatty acid homeostasis; positive regulation of intestinal cholesterol absorption; and regulation of membrane lipid metabolic process. Predicted to be located in Golgi apparatus; microvillus; and plasma membrane. Orthologous to human ENPP7 (ectonucleotide pyrophosphatase/phosphodiesterase 7). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in small intestine adult (RPKM 379.6), large intestine adult (RPKM 371.9) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Enpp7 in Genome Data Viewer
    Location:
    11 E2; 11 83.33 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (118879007..118884047)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (118988181..118993221)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RNA binding protein, fox-1 homolog (C. elegans) 3 Neighboring gene predicted gene 11750 Neighboring gene STARR-positive B cell enhancer ABC_E10734 Neighboring gene STARR-seq mESC enhancer starr_31311 Neighboring gene predicted gene, 35710 Neighboring gene STARR-positive B cell enhancer ABC_E92 Neighboring gene predicted gene, 35829 Neighboring gene chromobox 2 Neighboring gene chromobox 8

    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. Alkaline sphingomyelinase (NPP7) impacts the homeostasis of intestinal T lymphocyte populations. Alyamani M, et al. Front Immunol, 2022. PMID 36741374, Free PMC Article
    2. Enhanced colonic tumorigenesis in alkaline sphingomyelinase (NPP7) knockout mice. Chen Y, et al. Mol Cancer Ther, 2015 Jan. PMID 25381265
    3. Alkaline sphingomyelinase (NPP7) promotes cholesterol absorption by affecting sphingomyelin levels in the gut: A study with NPP7 knockout mice. Zhang P, et al. Am J Physiol Gastrointest Liver Physiol, 2014 May 15. PMID 24650549
    4. Crucial role of alkaline sphingomyelinase in sphingomyelin digestion: a study on enzyme knockout mice. Zhang Y, et al. J Lipid Res, 2011 Apr. PMID 21177474, Free PMC Article
    5. Alkaline sphingomyelinase: an old enzyme with novel implications. Duan RD. Biochim Biophys Acta, 2006 Mar. PMID 16631405

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis.
      Title: Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis.
    2. Alkaline sphingomyelinase (NPP7) impacts the homeostasis of intestinal T lymphocyte populations.
      Title: Alkaline sphingomyelinase (NPP7) impacts the homeostasis of intestinal T lymphocyte populations.
    3. Deficiency of alkaline SMase enhances dextran sulfate sodium-induced colitis in mice with upregulation of autotaxin
      Title: Deficiency of alkaline SMase enhances dextran sulfate sodium-induced colitis in mice with upregulation of autotaxin.
    4. Alkaline sphingomyelinase (NPP7) is a physiological factor promoting cholesterol absorption by reducing sphingomyelin levels in the intestinal lumen.
      Title: Alkaline sphingomyelinase (NPP7) promotes cholesterol absorption by affecting sphingomyelin levels in the gut: A study with NPP7 knockout mice.
    5. Results provides convincing evidence that alk-SMase is a physiologic factor that counteracts both initiation and malignant transformation of tumorigenesis in the colon.
      Title: Enhanced colonic tumorigenesis in alkaline sphingomyelinase (NPP7) knockout mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables nucleotidase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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
    		  
    enables sphingomyelin phosphodiesterase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sphingomyelin phosphodiesterase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables sphingomyelin phosphodiesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in fatty acid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid digestion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of intestinal cholesterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of sphingomyelin catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of intestinal lipid absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sphingomyelin catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in sphingomyelin metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microvillus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ectonucleotide pyrophosphatase/phosphodiesterase family member 7
    Names
    alkaline sphingomyelin phosphodiesterase
    intestinal alkaline sphingomyelinase
    NP_001346503.1

    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_001359574.1 → NP_001346503.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AK144474, BC141245
      Consensus CDS
      CCDS88293.1
      UniProtKB/Swiss-Prot
      A2A5N7, D3Z6V6, Q3TIW9
      UniProtKB/TrEMBL
      B7ZWB9
      Related
      ENSMUSP00000101880.3, ENSMUST00000106273.3
      Conserved Domains (1) summary
      cd16018
      Location:28 → 393
      Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      118879007..118884047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001030291.1: Suppressed sequence

      Description
      NM_001030291.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TIW9.1 GenPept UniProtKB/Swiss-Prot:Q3TIW9

    Gene LinkOut

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

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