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    Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 [ Mus musculus (house mouse) ]

    Gene ID: 18605, updated on 22-Oct-2017
    Official Symbol
    Enpp1provided by MGI
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase 1provided by MGI
    Primary source
    MGI:MGI:97370
    See related
    Ensembl:ENSMUSG00000037370 Vega:OTTMUSG00000019714
    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
    Pca; ttw; twy; M6S1; NPP1; Npps; PC-1; Ly-41; Pca-1; Pdnp1; C76301; CD203c; E-NPP1; E-NPP 1; AI428932; 4833416E15Rik
    Summary
    This gene encodes a member of the nucleoside pyrophosphatase/phosphodiesterase family of enzymes that catalyzes the hydrolysis of pyrophosphate and phosphodiester bonds in nucleotide triphosphates and oligonucleotides, respectively, to generate nucleoside 5'-monophosphates. The encoded protein is a type II transmembrane glycoprotein that negatively regulates bone mineralization. Mice harboring a nonsense mutation in this gene, termed tiptoe walking (ttw), exhibit ectopic ossification of the spinal ligaments. The encoded protein binds to the insulin receptor, inhibits downstream signaling events and induces insulin resistance and glucose tolerance. This gene is located adjacent to a paralog on chromosome 10. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
    Orthologs
    Location:
    10 A4; 10 12.26 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 10 NC_000076.6 (24637914..24712159, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (24361217..24431908, complement)

    Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102638890 Neighboring gene predicted gene, 36089 Neighboring gene predicted gene 6893 Neighboring gene connective tissue growth factor Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene mediator complex subunit 23 Neighboring gene microRNA 6905

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

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

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    NADH pyrophosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    exonuclease activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoside-triphosphate diphosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide diphosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    phosphodiesterase I activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphodiesterase I activity ISO
    Inferred from Sequence Orthology
    more info
     
    polysaccharide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    scavenger receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    3'-phosphoadenosine 5'-phosphosulfate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    bone remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular phosphate ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to insulin stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    generation of precursor metabolites and energy ISO
    Inferred from Sequence Orthology
    more info
     
    immune response IEA
    Inferred from Electronic Annotation
    more info
     
    inorganic diphosphate transport ISO
    Inferred from Sequence Orthology
    more info
     
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of glucose import ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of insulin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein autophosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    nucleic acid phosphodiester bond hydrolysis ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoside triphosphate catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    phosphate-containing compound metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    sequestering of triglyceride ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    apical dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    basilar dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    cell body ISO
    Inferred from Sequence Orthology
    more info
     
    cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    synapse ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    ectonucleotide pyrophosphatase/phosphodiesterase family member 1
    Names
    lymphocyte antigen 41
    phosphodiesterase I/nucleotide pyrophosphatase 1
    plasma-cell membrane glycoprotein PC-1
    tiptoe walking
    NP_001295256.1
    NP_001295258.1
    NP_032839.3
    XP_006512661.1
    XP_006512662.1

    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_001308327.1NP_001295256.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform 1

      See identical proteins and their annotated locations for NP_001295256.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC099695, AC158616, AF339910, AI428932
      Consensus CDS
      CCDS78802.1
      UniProtKB/Swiss-Prot
      P06802
      UniProtKB/TrEMBL
      A0A0R4J1Q7
      Related
      ENSMUSP00000114273.1, OTTMUSP00000021308, ENSMUST00000135846.1, OTTMUST00000047202
      Conserved Domains (4) summary
      smart00201
      Location:86126
      SO; Somatomedin B -like domains
      smart00477
      Location:657888
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:194520
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cd16018
      Location:192560
      Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin
    2. NM_001308329.1NP_001295258.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in two exons in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC099695, AC158616, AI428932, AK164619
      Conserved Domains (3) summary
      smart00477
      Location:304535
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:3168
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cl23718
      Location:3208
      ALP_like; alkaline phosphatases and sulfatases
    3. NM_008813.4NP_032839.3  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform 2

      See identical proteins and their annotated locations for NP_032839.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC099695, AC158616, AI428932, AK029600, AK164619
      Consensus CDS
      CCDS35870.1
      UniProtKB/TrEMBL
      G3X9S2
      Related
      ENSMUSP00000101159.1, OTTMUSP00000021307, ENSMUST00000105520.7, OTTMUST00000047201
      Conserved Domains (4) summary
      smart00201
      Location:86126
      SO; Somatomedin B -like domains
      smart00477
      Location:656887
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:194520
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cd16018
      Location:192560
      Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000076.6 Reference GRCm38.p4 C57BL/6J

      Range
      24637914..24712159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006512598.3XP_006512661.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform X1

      Conserved Domains (4) summary
      smart00201
      Location:5292
      SO; Somatomedin B -like domains
      smart00477
      Location:623854
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:160486
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cd16018
      Location:158526
      Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin
    2. XM_006512599.2XP_006512662.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform X2

      Conserved Domains (3) summary
      smart00477
      Location:305536
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:3168
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cl23718
      Location:3208
      ALP_like; alkaline phosphatases and sulfatases
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