ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1 | PC-1, PCA1, M6S1, NPPS, PDNP1

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]

Member of: DE-9 Developmental clusters: GC5
Biological processes 73 terms
3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)ATP binding (GO:0005524)ATP diphosphatase activity (GO:0047693)ATP metabolic process (GO:0046034)ATP metabolic process (GO:0046034)ATP metabolic process (GO:0046034)GTP diphosphatase activity (GO:0036219)UTP diphosphatase activity (GO:0036221)animal organ development (GO:0048513)basolateral plasma membrane (GO:0016323)basolateral plasma membrane (GO:0016323)bone mineralization (GO:0030282)calcium ion binding (GO:0005509)cell surface (GO:0009986)cell surface (GO:0009986)cellular response to insulin stimulus (GO:0032869)cyclic-GMP-AMP hydrolase activity (GO:0106177)cyclic-GMP-AMP hydrolase activity (GO:0106177)dinucleotide phosphatase activity (GO:0004551)dinucleotide phosphatase activity (GO:0004551)exonuclease activity (GO:0004527)extracellular region (GO:0005576)extracellular region (GO:0005576)gene expression (GO:0010467)generation of precursor metabolites and energy (GO:0006091)hydrolase activity (GO:0016787)immune response (GO:0006955)inorganic diphosphate transport (GO:0030505)inorganic diphosphate transport (GO:0030505)insulin receptor binding (GO:0005158)intracellular phosphate ion homeostasis (GO:0030643)lysosomal membrane (GO:0005765)melanocyte differentiation (GO:0030318)membrane (GO:0016020)membrane (GO:0016020)metal ion binding (GO:0046872)negative regulation of D-glucose import across plasma membrane (GO:0046325)negative regulation of bone mineralization (GO:0030502)negative regulation of cell growth (GO:0030308)negative regulation of fat cell differentiation (GO:0045599)negative regulation of fat cell differentiation (GO:0045599)negative regulation of glycogen biosynthetic process (GO:0045719)negative regulation of insulin receptor signaling pathway (GO:0046627)nucleic acid binding (GO:0003676)nucleic acid metabolic process (GO:0090304)nucleoside triphosphate catabolic process (GO:0009143)nucleoside triphosphate catabolic process (GO:0009143)nucleoside triphosphate catabolic process (GO:0009143)nucleoside triphosphate diphosphatase activity (GO:0047429)nucleoside triphosphate diphosphatase activity (GO:0047429)phosphatase activity (GO:0016791)phosphate ion homeostasis (GO:0055062)phosphate-containing compound metabolic process (GO:0006796)phosphodiesterase I activity (GO:0004528)phosphodiesterase I activity (GO:0004528)phosphodiesterase I activity (GO:0004528)phosphodiesterase I activity (GO:0004528)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)polysaccharide binding (GO:0030247)protein binding (GO:0005515)protein homodimerization activity (GO:0042803)regulation of bone mineralization (GO:0030500)regulation of bone mineralization (GO:0030500)response to ATP (GO:0033198)scavenger receptor activity (GO:0005044)vesicle-mediated transport (GO:0016192)zinc ion binding (GO:0008270)
Expression (TPM)
ENPP1 — as a Regulated Gene

TFs regulating ENPP1 0 TFs

Transcription factors with Perturb-seq knockdown data for ENPP1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ENPP1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ENPP1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ENPP1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr6:131,627,705–131,628,707 179.9 kb Distal (>10kb) Multiome 1165
chr6:131,765,030–131,766,034 42.7 kb Distal (>10kb) Multiome 365
chr6:131,807,370–131,808,750 134 bp At TSS Multiome 725
chr6:131,859,548–131,860,162 51.7 kb Distal (>10kb) Multiome 117
chr6:131,949,770–131,951,936 143.2 kb Distal (>10kb) Multiome 1038

Genome Browser

Genomic view of the ENPP1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr6:131,617,705 – 131,961,936
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq