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

Gene ID: 5167, updated on 12-May-2015
Official Symbol
ENPP1provided by HGNC
Official Full Name
ectonucleotide pyrophosphatase/phosphodiesterase 1provided by HGNC
Primary source
HGNC:HGNC:3356
See related
Ensembl:ENSG00000197594; HPRD:01415; 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
See ENPP1 in MapViewer
Location:
6q22-q23
Exon count:
25
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 connective tissue growth factor Neighboring gene uncharacterized LOC105378006

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Arterial calcification of infancy Compare labs
Cole disease
MedGen: CN181445 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 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 
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
bone remodeling 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 ossification IEA
Inferred from Electronic Annotation
more info
 
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
 
nucleic acid phosphodiester bond hydrolysis ISS
Inferred from Sequence or Structural Similarity
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 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
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
ectonucleotide pyrophosphatase/phosphodiesterase family member 1
E-NPP 1
Ly-41 antigen
alkaline phosphodiesterase 1
membrane component chromosome 6 surface marker 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

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, OTTHUMP00000017212, ENST00000360971, OTTHUMT00000042238
    Conserved Domains (4) summary
    smart00201
    Location:145188
    SO; Somatomedin B -like domains
    COG1524
    Location:212591
    COG1524; Uncharacterized proteins of the AP superfamily [General function prediction only]
    cd00091
    Location:657917
    NUC; DNA/RNA non-specific endonuclease; prokaryotic and eukaryotic double- and single-stranded DNA and RNA endonucleases also present in phosphodiesterases. They exists as monomers and homodimers.
    pfam01663
    Location:212538
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011535896.1XP_011534198.1  

    Conserved Domains (2) summary
    cd00091
    Location:287547
    NUC; DNA/RNA non-specific endonuclease; prokaryotic and eukaryotic double- and single-stranded DNA and RNA endonucleases also present in phosphodiesterases. They exists as monomers and homodimers.
    pfam01663
    Location:3168
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

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