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

    Gene ID: 18605, updated on 4-Jan-2025

    Summary

    Official Symbol
    Enpp1provided by MGI
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase 1provided by MGI
    Primary source
    MGI:MGI:97370
    See related
    Ensembl:ENSMUSG00000037370 AllianceGenome:MGI:97370
    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; CD203c; E-NPP1; E-NPP 1; 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]
    Expression
    Biased expression in genital fat pad adult (RPKM 21.6), bladder adult (RPKM 3.9) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Enpp1 in Genome Data Viewer
    Location:
    10 A4; 10 12.26 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (24513812..24588057, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (24637914..24712159, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene 15270 Neighboring gene predicted gene, 36089 Neighboring gene predicted gene 6893 Neighboring gene cellular communication network factor 2 Neighboring gene STARR-seq mESC enhancer starr_26082 Neighboring gene STARR-seq mESC enhancer starr_26086 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene STARR-seq mESC enhancer starr_26088 Neighboring gene STARR-seq mESC enhancer starr_26089 Neighboring gene STARR-seq mESC enhancer starr_26090 Neighboring gene STARR-positive B cell enhancer ABC_E6826 Neighboring gene mediator complex subunit 23 Neighboring gene predicted gene, 23410

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2)  1 citation
    • Endonuclease-mediated (7) 
    • Spontaneous (5)  1 citation
    • Targeted (1) 

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 35
    Function Evidence Code Pubs
    enables 3',5'-cyclic-AMP phosphodiesterase activity  
    enables 8-oxo-(d)RTP hydrolase activity  
    enables ATP binding  
    enables ATP diphosphatase activity  
    enables GTP diphosphatase activity  
    enables UTP diphosphatase activity  
    enables calcium ion binding PubMed 
    enables coenzyme A diphosphatase activity PubMed 
    enables cyclic-GMP-AMP hydrolase activity PubMed 
    enables cyclic-GMP-AMP hydrolase activity PubMed 
    enables cyclic-GMP-AMP hydrolase activity  
    enables dinucleotide phosphatase activity  
    enables dinucleotide phosphatase activity PubMed 
    enables dinucleotide phosphatase activity  
    enables exonuclease activity  
    enables identical protein binding PubMed 
    enables insulin receptor binding  
    enables nucleic acid binding  
    enables nucleoside triphosphate diphosphatase activity PubMed 
    enables nucleoside triphosphate diphosphatase activity  
    enables nucleoside triphosphate diphosphatase activity  
    enables phosphatase activity PubMed 
    enables phosphatase activity PubMed 
    enables phosphatase activity PubMed 
    enables phosphodiesterase I activity  
    enables phosphodiesterase I activity PubMed 
    enables phosphodiesterase I activity PubMed 
    enables phosphodiesterase I activity  
    enables phosphoric diester hydrolase activity PubMed 
    enables polysaccharide binding  
    enables protein homodimerization activity PubMed 
    enables protein homodimerization activity  
    enables pyrophosphatase activity PubMed 
    enables scavenger receptor activity  
    enables zinc ion binding PubMed 
    Items 1 - 25 of 35
    Items 1 - 25 of 155
    Process Evidence Code Pubs
    involved_in 3'-phosphoadenosine 5'-phosphosulfate metabolic process  
    involved_in ATP metabolic process  
    involved_in ATP metabolic process PubMed 
    involved_in ATP metabolic process PubMed 
    involved_in B-1 B cell homeostasis PubMed 
    involved_in D-glucose import PubMed 
    involved_in T cell differentiation PubMed 
    involved_in Wnt signaling pathway PubMed 
    involved_in adipose tissue development PubMed 
    involved_in adult locomotory behavior PubMed 
    involved_in adult walking behavior PubMed 
    involved_in aorta development PubMed 
    involved_in apoptotic process involved in development PubMed 
    involved_in artery development PubMed 
    involved_in articular cartilage development PubMed 
    involved_in axon regeneration PubMed 
    involved_in biomineral tissue development PubMed 
    involved_in bone development PubMed 
    involved_in bone growth PubMed 
    acts_upstream_of bone mineralization PubMed 
    involved_in bone mineralization PubMed 
    involved_in bone mineralization PubMed 
    acts_upstream_of bone mineralization PubMed 
    involved_in bone mineralization PubMed 
    involved_in bone mineralization PubMed 
    involved_in bone mineralization involved in bone maturation PubMed 
    acts_upstream_of_or_within bone remodeling PubMed 
    involved_in bone remodeling PubMed 
    involved_in bone resorption PubMed 
    involved_in bone trabecula formation PubMed 
    involved_in calcium ion homeostasis PubMed 
    involved_in calcium ion homeostasis PubMed 
    involved_in cartilage development PubMed 
    acts_upstream_of_positive_effect cell morphogenesis PubMed 
    acts_upstream_of_positive_effect cell morphogenesis PubMed 
    involved_in cell population proliferation PubMed 
    involved_in cell population proliferation PubMed 
    involved_in cellular homeostasis PubMed 
    involved_in cellular homeostasis PubMed 
    involved_in cellular response to insulin stimulus  
    involved_in cellular response to sodium phosphate PubMed 
    involved_in cementum mineralization PubMed 
    involved_in cementum mineralization PubMed 
    involved_in cementum mineralization PubMed 
    involved_in central nervous system myelination PubMed 
    involved_in coenzyme A catabolic process PubMed 
    involved_in coenzyme A catabolic process PubMed 
    involved_in collagen-activated signaling pathway PubMed 
    involved_in defense response to protozoan PubMed 
    involved_in determination of adult lifespan PubMed 
    involved_in diphosphate metabolic process PubMed 
    involved_in diphosphate metabolic process PubMed 
    involved_in endochondral bone morphogenesis PubMed 
    involved_in endochondral ossification PubMed 
    involved_in establishment of localization in cell PubMed 
    involved_in fat cell differentiation PubMed 
    involved_in fat pad development PubMed 
    involved_in fatty acid metabolic process PubMed 
    involved_in fibroblast growth factor receptor signaling pathway PubMed 
    acts_upstream_of_positive_effect gene expression PubMed 
    involved_in gene expression PubMed 
    involved_in gene expression PubMed 
    involved_in gene expression PubMed 
    involved_in gene expression PubMed 
    involved_in generation of precursor metabolites and energy  
    involved_in glucose homeostasis PubMed 
    involved_in glycolytic process PubMed 
    involved_in heart development PubMed 
    involved_in hematopoietic stem cell migration to bone marrow PubMed 
    involved_in hormone metabolic process PubMed 
    involved_in immunoglobulin production involved in immunoglobulin-mediated immune response PubMed 
    involved_in inflammatory response to antigenic stimulus PubMed 
    involved_in inhibition of non-skeletal tissue mineralization PubMed 
    involved_in inhibition of non-skeletal tissue mineralization PubMed 
    involved_in inhibition of non-skeletal tissue mineralization PubMed 
    involved_in inhibition of non-skeletal tissue mineralization PubMed 
    involved_in inorganic diphosphate transport  
    involved_in inorganic diphosphate transport PubMed 
    involved_in inorganic diphosphate transport PubMed 
    involved_in inorganic diphosphate transport PubMed 
    involved_in inorganic diphosphate transport  
    involved_in intracellular phosphate ion homeostasis  
    involved_in kidney development PubMed 
    involved_in leukocyte activation involved in inflammatory response PubMed 
    involved_in ligamentous ossification PubMed 
    involved_in long-term synaptic potentiation PubMed 
    involved_in mRNA transcription by RNA polymerase II PubMed 
    involved_in macrophage differentiation PubMed 
    involved_in magnesium ion homeostasis PubMed 
    involved_in melanocyte differentiation  
    involved_in metabolic process PubMed 
    involved_in microglia differentiation PubMed 
    involved_in microglial cell migration PubMed 
    involved_in middle ear morphogenesis PubMed 
    involved_in mitochondrion organization PubMed 
    involved_in morphogenesis of an epithelium PubMed 
    involved_in mucus secretion PubMed 
    involved_in multicellular organism growth PubMed 
    involved_in muscle cell cellular homeostasis PubMed 
    involved_in negative regulation of D-glucose import  
    involved_in negative regulation of bone mineralization PubMed 
    involved_in negative regulation of cell growth  
    involved_in negative regulation of fat cell differentiation  
    involved_in negative regulation of fat cell differentiation PubMed 
    involved_in negative regulation of fat cell differentiation  
    involved_in negative regulation of glycogen biosynthetic process  
    involved_in negative regulation of hh target transcription factor activity PubMed 
    involved_in negative regulation of insulin receptor signaling pathway  
    acts_upstream_of_or_within negative regulation of ossification PubMed 
    involved_in negative regulation of protein autophosphorylation  
    involved_in neuron apoptotic process PubMed 
    involved_in nucleic acid metabolic process  
    involved_in nucleoside triphosphate catabolic process  
    involved_in nucleoside triphosphate catabolic process  
    involved_in odontogenesis PubMed 
    involved_in oligodendrocyte apoptotic process PubMed 
    involved_in organic phosphonate metabolic process PubMed 
    acts_upstream_of ossification PubMed 
    involved_in ossification PubMed 
    involved_in osteoblast differentiation PubMed 
    involved_in osteoblast differentiation PubMed 
    involved_in osteoclast differentiation PubMed 
    involved_in phosphate ion homeostasis PubMed 
    involved_in phosphate ion homeostasis PubMed 
    involved_in phosphate ion homeostasis PubMed 
    involved_in phosphate ion homeostasis PubMed 
    involved_in phosphate-containing compound metabolic process  
    involved_in plasma cell differentiation PubMed 
    involved_in post-embryonic forelimb morphogenesis PubMed 
    acts_upstream_of_or_within_negative_effect protein poly-ADP-ribosylation PubMed 
    involved_in regulation of bone mineralization  
    involved_in response to Gram-positive bacterium PubMed 
    involved_in response to dietary excess PubMed 
    involved_in response to insulin PubMed 
    involved_in response to magnesium ion PubMed 
    involved_in response to magnesium ion PubMed 
    involved_in response to platelet-derived growth factor PubMed 
    involved_in response to sodium phosphate PubMed 
    involved_in response to sodium phosphate PubMed 
    involved_in response to vitamin B6 PubMed 
    involved_in response to wounding PubMed 
    involved_in sensory perception of mechanical stimulus PubMed 
    involved_in sensory perception of sound PubMed 
    involved_in sensory perception of temperature stimulus PubMed 
    involved_in sequestering of triglyceride  
    involved_in skin development PubMed 
    involved_in smoothened signaling pathway PubMed 
    involved_in spinal cord development PubMed 
    involved_in tooth mineralization PubMed 
    involved_in type II interferon production PubMed 
    involved_in vascular associated smooth muscle cell migration PubMed 
    involved_in vascular associated smooth muscle cell proliferation PubMed 
    involved_in vasculogenesis PubMed 
    involved_in vesicle-mediated transport  
    involved_in vitamin D3 metabolic process PubMed 
    Items 1 - 25 of 155
    Items 1 - 20 of 21
    Component Evidence Code Pubs
    located_in apical dendrite  
    located_in basal dendrite  
    located_in basolateral plasma membrane  
    located_in cell body  
    located_in cell projection  
    is_active_in cell surface  
    is_active_in cell surface PubMed 
    located_in cell surface PubMed 
    located_in cell surface  
    is_active_in extracellular region PubMed 
    is_active_in extracellular region PubMed 
    located_in extracellular space PubMed 
    is_active_in extracellular space PubMed 
    located_in extracellular space  
    is_active_in extracellular space PubMed 
    located_in membrane PubMed 
    located_in neuronal cell body  
    is_active_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    is_active_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    Items 1 - 20 of 21

    General protein information

    Preferred Names
    ectonucleotide pyrophosphatase/phosphodiesterase family member 1
    Names
    NPPase
    alkaline phosphodiesterase I
    lymphocyte antigen 41
    nucleotide diphosphatase
    nucleotide pyrophosphatase
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q542E9, Q924C4
      UniProtKB/TrEMBL
      A0A0R4J1Q7
      Related
      ENSMUSP00000114273.2, ENSMUST00000135846.2
      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/Swiss-Prot
      P06802, Q542E9, Q924C4
      UniProtKB/TrEMBL
      G3X9S2
      Related
      ENSMUSP00000101159.2, ENSMUST00000105520.8
      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: 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
      24513812..24588057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006512598.5XP_006512661.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform X1

      UniProtKB/Swiss-Prot
      P06802, Q542E9, Q924C4
      Conserved Domains (3) 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
    2. XM_006512599.2XP_006512662.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform X2

      Conserved Domains (2) summary
      smart00477
      Location:305536
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:3168
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
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