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

Gene ID: 5167, updated on 12-Aug-2018

Summary

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]
Expression
Biased expression in placenta (RPKM 22.6), thyroid (RPKM 14.0) and 13 other tissues See more
Orthologs

Genomic context

See ENPP1 in Genome Data Viewer
Location:
6q23.2
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 leucine rich repeat containing 8 VRAC subunit B pseudogene Neighboring gene selenoprotein K pseudogene 2 Neighboring gene RNA, 7SK small nuclear pseudogene 245 Neighboring gene HNF4 motif-containing MPRA enhancer 74 Neighboring gene connective tissue growth factor

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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
not available
Hypophosphatemic rickets, autosomal recessive, 2
MedGen: C2750078 OMIM: 613312 GeneReviews: Not available
Compare labs
Obesity
MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
Compare labs
Ossification of the posterior longitudinal ligament of the spine
MedGen: C1865343 OMIM: 602475 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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside-triphosphate diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 TAS
Traceable Author Statement
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
polysaccharide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
ATP metabolic process IBA
Inferred from Biological aspect of Ancestor
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
 
bone remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular phosphate ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular phosphate ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
liver development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell growth IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of fat cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of fat cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of glucose import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of glucose import IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of glycogen biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein autophosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IDA
Inferred from Direct Assay
more info
PubMed 
nucleoside triphosphate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside triphosphate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
olfactory bulb development IBA
Inferred from Biological aspect of Ancestor
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 
response to mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
riboflavin metabolic process TAS
Traceable Author Statement
more info
 
sequestering of triglyceride IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequestering of triglyceride IDA
Inferred from Direct Assay
more info
PubMed 
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 
basal dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
cell projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosomal membrane HDA PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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