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    Enpp6 ectonucleotide pyrophosphatase/phosphodiesterase 6 [ Mus musculus (house mouse) ]

    Gene ID: 320981, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Enpp6provided by MGI
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase 6provided by MGI
    Primary source
    MGI:MGI:2445171
    See related
    Ensembl:ENSMUSG00000038173 AllianceGenome:MGI:2445171
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Npp6; E-NPP 6; GPC-Cpde; D8Ertd514e; 4833421B01Rik; B830047L21Rik
    Summary
    This gene encodes a member of the nucleotide pyrophosphatase/phosphodiesterase family of enzymes that play an important role in regulating extracellular nucleotide metabolism. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol (GPI)-anchored membrane protein that hydrolyzes choline-containing lysophospholipids such as glycerophosphocholine. Mice lacking the encoded protein develop fatty liver and myelin sheath abnormalities. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in kidney adult (RPKM 11.3), cerebellum adult (RPKM 1.7) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Enpp6 in Genome Data Viewer
    Location:
    8 B1.1; 8 26.48 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (47439920..47549797)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (46939197..47096762)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene interferon regulatory factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E6637 Neighboring gene STARR-seq mESC enhancer starr_21394 Neighboring gene STARR-positive B cell enhancer ABC_E10499 Neighboring gene predicted gene, 39170 Neighboring gene STARR-seq mESC enhancer starr_21395 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:48005439-48005671 Neighboring gene STARR-positive B cell enhancer ABC_E2864 Neighboring gene STARR-positive B cell enhancer ABC_E5003 Neighboring gene STARR-positive B cell enhancer ABC_E6638 Neighboring gene predicted gene, 53417 Neighboring gene STARR-seq mESC enhancer starr_21398 Neighboring gene predicted gene, 31231 Neighboring gene STARR-seq mESC enhancer starr_21399 Neighboring gene predicted gene, 51569 Neighboring gene storkhead box 2 Neighboring gene predicted gene, 51570

    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. Expression, purification, crystallization and preliminary X-ray crystallographic analysis of Enpp6. Morita J, et al. Acta Crystallogr F Struct Biol Commun, 2014 Jun. PMID 24915096, Free PMC Article
    2. Lipid metabolic effect of Korean red ginseng extract in mice fed on a high-fat diet. Song YB, et al. J Sci Food Agric, 2012 Jan 30. PMID 21918993
    3. Fluorescence probe for lysophospholipase C/NPP6 activity and a potent NPP6 inhibitor. Kawaguchi M, et al. J Am Chem Soc, 2011 Aug 10. PMID 21721554
    4. Structure and biological function of ENPP6, a choline-specific glycerophosphodiester-phosphodiesterase. Morita J, et al. Sci Rep, 2016 Feb 18. PMID 26888014, Free PMC Article
    5. Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family. Sakagami H, et al. J Biol Chem, 2005 Jun 17. PMID 15788404

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The crystal structure of ENPP6 in complex with phosphocholine revealed that the choline moiety of the phosphocholine is recognized by a choline-binding pocket formed by conserved aromatic and acidic residues. The present study provides the molecular basis for ENPP6-mediated choline metabolism at atomic, cellular and tissue levels.
      Title: Structure and biological function of ENPP6, a choline-specific glycerophosphodiester-phosphodiesterase.
    2. NPP6 has a specific role through the hydrolysis of polyunsaturated LPC, glycerophosphorylcholine, or sphingosylphosphorylcholine in kidney, brain and heart
      Title: Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables glycerophosphocholine cholinephosphodiesterase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables glycerophosphocholine cholinephosphodiesterase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycerophosphodiester phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycerophosphodiester phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoric diester hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in choline metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within choline metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in choline metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in choline metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glycerophosphocholine cholinephosphodiesterase ENPP6
    Names
    choline-specific glycerophosphodiester phosphodiesterase
    ectonucleotide pyrophosphatase/phosphodiesterase family member 6
    NP_796278.1
    XP_017168350.1

    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_177304.4 → NP_796278.1  glycerophosphocholine cholinephosphodiesterase ENPP6 preproprotein

      See identical proteins and their annotated locations for NP_796278.1

      Status: REVIEWED

      Source sequence(s)
      AC123751, AC160460, AK046797, BE991175
      Consensus CDS
      CCDS40335.1
      UniProtKB/Swiss-Prot
      Q4VAH5, Q8BGN3
      UniProtKB/TrEMBL
      D3YU63
      Related
      ENSMUSP00000044608.8, ENSMUST00000039840.15
      Conserved Domains (1) summary
      pfam01663
      Location:26 → 357
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      47439920..47549797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312861.2 → XP_017168350.1  glycerophosphocholine cholinephosphodiesterase ENPP6 isoform X1

      UniProtKB/TrEMBL
      D3YU63
      Related
      ENSMUSP00000112633.2, ENSMUST00000119686.2
      Conserved Domains (1) summary
      pfam01663
      Location:26 → 357
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGN3.1 GenPept UniProtKB/Swiss-Prot:Q8BGN3

    Gene LinkOut

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

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