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

Gene ID: 18605, updated on 12-Aug-2018

Summary

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]
Expression
Biased expression in genital fat pad adult (RPKM 21.6), bladder adult (RPKM 3.9) and 5 other tissues See more
Orthologs

Genomic context

See Enpp1 in Genome Data Viewer
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 predicted gene 15270 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

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 FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding ISO
Inferred from Sequence Orthology
more info
 
NADH pyrophosphatase activity IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside-triphosphate diphosphatase activity ISO
Inferred from Sequence Orthology
more info
 
nucleotide diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide diphosphatase activity ISO
Inferred from Sequence Orthology
more info
 
phosphodiesterase I activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
3'-phosphoadenosine 5'-phosphosulfate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3'-phosphoadenosine 5'-phosphosulfate metabolic process ISO
Inferred from Sequence Orthology
more info
 
ATP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
bone remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bone remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular phosphate ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular phosphate ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
cellular response to acidic pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to cAMP IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to insulin stimulus ISO
Inferred from Sequence Orthology
more info
 
cellular response to mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to transforming growth factor beta stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebellum development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cerebral cortex development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
generation of precursor metabolites and energy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
generation of precursor metabolites and energy ISO
Inferred from Sequence Orthology
more info
 
hippocampus development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
immune response IEA
Inferred from Electronic Annotation
more info
 
inorganic diphosphate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inorganic diphosphate transport ISO
Inferred from Sequence Orthology
more info
 
liver development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell growth ISO
Inferred from Sequence Orthology
more info
 
negative regulation of fat cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of glucose import ISO
Inferred from Sequence Orthology
more info
 
negative regulation of glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of glycogen biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
negative regulation of insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside triphosphate catabolic process ISO
Inferred from Sequence Orthology
more info
 
olfactory bulb development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphate-containing compound metabolic process ISO
Inferred from Sequence Orthology
more info
 
response to mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequestering of triglyceride IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequestering of triglyceride ISO
Inferred from Sequence Orthology
more info
 
striatum development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical dendrite ISO
Inferred from Sequence Orthology
more info
 
basal dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basal dendrite ISO
Inferred from Sequence Orthology
more info
 
cell body ISO
Inferred from Sequence Orthology
more info
 
cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell projection ISO
Inferred from Sequence Orthology
more info
 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISO
Inferred from Sequence Orthology
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

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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