Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzymeTransmemebrane
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000197594 Gene ID 5167 Accession 3356
Symbol ENPP1 Alias M6S1;NPP1;NPPS;PC-1;PCA1;ARHR2;COLED;PDNP1 Full Name ectonucleotide pyrophosphatase/phosphodiesterase 1
Status Confidence Length 87136 bases Strand Plus strand
Position 6 : 131808020 - 131895155 RNA binding domain Endonuclease_NS
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000498074 Endonuclease_NS PF01223 1.9e-09 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
19083193 The role of HSP70 on ENPP1 expression and insulin-receptor activation. Antonella Marucci 2009-02-01 Journal of molecular medicine (Berlin, Germany)

Transcripts

Name Transcript ID bp Protein Translation ID

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
15327Heart Failure9.3515330E-004-
31110Neutrophils3.6200000E-005-
32060Fetal Hemoglobin2.6300000E-00520018918
40559Platelet Function Tests7.5800000E-007-
53740Transforming Growth Factor beta3.5380000E-005-
83584C-Reactive Protein3E-623251661

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0003676enables nucleic acid binding1IEAHomo_sapiens(9606)Function
GO:0004115enables 3,5-cyclic-AMP phosphodiesterase activity1IEAHomo_sapiens(9606)Function
GO:0004527enables exonuclease activity1IDAHomo_sapiens(9606)Function
GO:0004528enables phosphodiesterase I activity3IBA,IDA,ISSHomo_sapiens(9606)Function
GO:0004551enables dinucleotide phosphatase activity2IBA,IDAHomo_sapiens(9606)Function
GO:0005044enables scavenger receptor activity1IEAHomo_sapiens(9606)Function
GO:0005158enables insulin receptor binding1IDAHomo_sapiens(9606)Function
GO:0005509enables calcium ion binding1ISSHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005524enables ATP binding1IDAHomo_sapiens(9606)Function
GO:0005615located_in extracellular space1IDAHomo_sapiens(9606)Component
GO:0005765located_in lysosomal membrane1HDAHomo_sapiens(9606)Component
GO:0005886is_active_in plasma membrane4IDA,ISS,TASHomo_sapiens(9606)Component
GO:0006091involved_in generation of precursor metabolites and energy1IDAHomo_sapiens(9606)Process
GO:0006796involved_in phosphate-containing compound metabolic process1IDAHomo_sapiens(9606)Process
GO:0006897involved_in endocytosis1IEAHomo_sapiens(9606)Process
GO:0006955involved_in immune response1IEAHomo_sapiens(9606)Process
GO:0008270enables zinc ion binding1ISSHomo_sapiens(9606)Function
GO:0009143involved_in nucleoside triphosphate catabolic process2IBA,IDAHomo_sapiens(9606)Process
GO:0009986is_active_in cell surface2IBA,IDAHomo_sapiens(9606)Component
GO:0010035involved_in response to inorganic substance1IDAHomo_sapiens(9606)Process
GO:0010467involved_in gene expression1IDAHomo_sapiens(9606)Process
GO:0016020located_in membrane1ISSHomo_sapiens(9606)Component
GO:0016323located_in basolateral plasma membrane1NASHomo_sapiens(9606)Component
GO:0016791enables phosphatase activity1IDAHomo_sapiens(9606)Function
GO:0030247enables polysaccharide binding1IEAHomo_sapiens(9606)Function
GO:0030282involved_in bone mineralization1IDAHomo_sapiens(9606)Process
GO:0030308involved_in negative regulation of cell growth1IDAHomo_sapiens(9606)Process
GO:0030318involved_in melanocyte differentiation1IMPHomo_sapiens(9606)Process
GO:0030500involved_in regulation of bone mineralization2IBA,ICHomo_sapiens(9606)Process
GO:0030502involved_in negative regulation of bone mineralization1ISSHomo_sapiens(9606)Process
GO:0030505involved_in inorganic diphosphate transport2IBA,IDAHomo_sapiens(9606)Process
GO:0030643involved_in intracellular phosphate ion homeostasis1IDAHomo_sapiens(9606)Process
GO:0030730involved_in sequestering of triglyceride1IDAHomo_sapiens(9606)Process
GO:0031953involved_in negative regulation of protein autophosphorylation1IDAHomo_sapiens(9606)Process
GO:0032869involved_in cellular response to insulin stimulus1IDAHomo_sapiens(9606)Process
GO:0033198involved_in response to ATP1IDAHomo_sapiens(9606)Process
GO:0036219enables GTP diphosphatase activity1IEAHomo_sapiens(9606)Function
GO:0036221enables UTP diphosphatase activity1IEAHomo_sapiens(9606)Function
GO:0042803enables protein homodimerization activity1IDAHomo_sapiens(9606)Function
GO:0045599involved_in negative regulation of fat cell differentiation2IBA,IDAHomo_sapiens(9606)Process
GO:0045719involved_in negative regulation of glycogen biosynthetic process1IDAHomo_sapiens(9606)Process
GO:0046034involved_in ATP metabolic process3IBA,IDA,ISSHomo_sapiens(9606)Process
GO:0046325involved_in negative regulation of glucose import1IDAHomo_sapiens(9606)Process
GO:0046627involved_in negative regulation of insulin receptor signaling pathway1IDAHomo_sapiens(9606)Process
GO:0047429enables nucleoside triphosphate diphosphatase activity1IDAHomo_sapiens(9606)Function
GO:0047693enables ATP diphosphatase activity1IEAHomo_sapiens(9606)Function
GO:0050427involved_in 3-phosphoadenosine 5-phosphosulfate metabolic process1IDAHomo_sapiens(9606)Process
GO:0050656enables 3-phosphoadenosine 5-phosphosulfate binding1ICHomo_sapiens(9606)Function
GO:0055062involved_in phosphate ion homeostasis1IDAHomo_sapiens(9606)Process
GO:0090305involved_in nucleic acid phosphodiester bond hydrolysis1IDAHomo_sapiens(9606)Process
GO:0106177enables cyclic-GMP-AMP hydrolase activity1IDAHomo_sapiens(9606)Function
GO:1990787involved_in negative regulation of hh target transcription factor activity1ISSHomo_sapiens(9606)Process

Expression