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    ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 [ Homo sapiens (human) ]

    Gene ID: 5167, updated on 9-Jul-2017
    Official Symbol
    ENPP1provided by HGNC
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase 1provided by HGNC
    Primary source
    HGNC:HGNC:3356
    See related
    Ensembl:ENSG00000197594 MIM:173335; Vega:OTTHUMG00000015572
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1
    Summary
    This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    6q23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (131808016..131895155)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (132129156..132216295)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L15 pseudogene 9 Neighboring gene microRNA 548h-5 Neighboring gene selenoprotein K pseudogene Neighboring gene leucine rich repeat containing 8 family member B pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 245 Neighboring gene connective tissue growth factor Neighboring gene microRNA 548aj-1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Arterial calcification of infancy Compare labs
    Cole disease
    MedGen: C3809781 OMIM: 615522 GeneReviews: Not available
    Compare labs
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs
    Hypophosphatemic rickets, autosomal recessive, 2
    MedGen: C2750078 OMIM: 613312 GeneReviews: Not available
    Compare labs
    Obesity
    MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-phosphoadenosine 5'-phosphosulfate binding IC
    Inferred by Curator
    more info
    PubMed 
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NADH pyrophosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    insulin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoside-triphosphate diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide diphosphatase activity TAS
    Traceable Author Statement
    more info
     
    phosphodiesterase I activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphodiesterase I activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    polysaccharide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    scavenger receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    3'-phosphoadenosine 5'-phosphosulfate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular phosphate ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to insulin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    generation of precursor metabolites and energy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    immune response IEA
    Inferred from Electronic Annotation
    more info
     
    inorganic diphosphate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of fat cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of glycogen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoside triphosphate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphate-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bone mineralization IC
    Inferred by Curator
    more info
    PubMed 
    riboflavin metabolic process TAS
    Traceable Author Statement
    more info
     
    sequestering of triglyceride IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    basolateral plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    ectonucleotide pyrophosphatase/phosphodiesterase family member 1
    Names
    E-NPP 1
    Ly-41 antigen
    alkaline phosphodiesterase 1
    membrane component, chromosome 6, surface marker 1
    phosphodiesterase I/nucleotide pyrophosphatase 1
    plasma-cell membrane glycoprotein 1
    plasma-cell membrane glycoprotein PC-1
    NP_006199.2
    XP_011534198.1

    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.

    Genomic

    1. NG_008206.1 RefSeqGene

      Range
      5001..92140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006208.2NP_006199.2  ectonucleotide pyrophosphatase/phosphodiesterase family member 1

      See identical proteins and their annotated locations for NP_006199.2

      Status: REVIEWED

      Source sequence(s)
      AL117378, AL139805
      Consensus CDS
      CCDS5150.2
      UniProtKB/Swiss-Prot
      P22413
      Related
      ENSP00000354238.2, OTTHUMP00000017212, ENST00000360971.6, OTTHUMT00000042238
      Conserved Domains (4) summary
      smart00201
      Location:145188
      SO; Somatomedin B -like domains
      smart00477
      Location:676907
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:212538
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cd16018
      Location:210578
      Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      131808016..131895155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535896.1XP_011534198.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 1 isoform X1

      Conserved Domains (3) summary
      smart00477
      Location:306537
      NUC; DNA/RNA non-specific endonuclease
      pfam01663
      Location:3168
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cl23718
      Location:3208
      ALP_like; alkaline phosphatases and sulfatases

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      132392926..132480050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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