ENPP1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

ENPP1

Aliases

ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1

Entrez Gene ID

5167

Gene Name

Ectonucleotide pyrophosphatase/phosphodiesterase 1

Chromosomal Location

6q23.2

HGNC ID

HGNC:3356

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]

RefSeq DNA

NG_008206.1

RefSeq mRNA

NM_006208.3

e!Ensembl

Gene	ENSG00000197594
Transcript	ENST00000647893, ENST00000513998, ENST00000650507, ENST00000650147, ENST00000650437
Protein	ENSP00000498074, ENSP00000422424, ENSP00000497375, ENSP00000497519, ENSP00000497981

Gene Ontology (GO)

Show/Hide all(39 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006091	Biological process	Generation of precursor metabolites and energy	IDA	12746903
GO:0006796	Biological process	Phosphate-containing compound metabolic process	IDA	10513816, 11159191
GO:0009143	Biological process	Nucleoside triphosphate catabolic process	IBA	21873635
GO:0009143	Biological process	Nucleoside triphosphate catabolic process	IDA	10513816
GO:0030308	Biological process	Negative regulation of cell growth	IDA	17849011
GO:0030318	Biological process	Melanocyte differentiation	IMP	28964717
GO:0030500	Biological process	Regulation of bone mineralization	IBA	21873635
GO:0030500	Biological process	Regulation of bone mineralization	IC	10513816
GO:0030505	Biological process	Inorganic diphosphate transport	IBA	21873635
GO:0030505	Biological process	Inorganic diphosphate transport	IDA	10513816
GO:0030643	Biological process	Cellular phosphate ion homeostasis	IDA	11159191
GO:0030730	Biological process	Sequestering of triglyceride	IDA	17849011
GO:0031953	Biological process	Negative regulation of protein autophosphorylation	IDA	11289049
GO:0032869	Biological process	Cellular response to insulin stimulus	IDA	7830796, 17849011
GO:0045599	Biological process	Negative regulation of fat cell differentiation	IBA	21873635
GO:0045599	Biological process	Negative regulation of fat cell differentiation	IDA	17849011
GO:0045719	Biological process	Negative regulation of glycogen biosynthetic process	IDA	11289049
GO:0046034	Biological process	ATP metabolic process	IBA	21873635
GO:0046325	Biological process	Negative regulation of glucose import	IDA	17849011
GO:0046627	Biological process	Negative regulation of insulin receptor signaling pathway	IDA	7830796, 17849011
GO:0050427	Biological process	3'-phosphoadenosine 5'-phosphosulfate metabolic process	IDA	7830796
GO:0090305	Biological process	Nucleic acid phosphodiester bond hydrolysis	IDA	22285541
GO:0005615	Cellular component	Extracellular space	IDA	11159191
GO:0005765	Cellular component	Lysosomal membrane	HDA	17897319
GO:0005886	Cellular component	Plasma membrane	IDA	10513816, 27467858
GO:0009986	Cellular component	Cell surface	IBA	21873635
GO:0009986	Cellular component	Cell surface	IDA	10513816
GO:0016323	Cellular component	Basolateral plasma membrane	NAS	9553761
GO:0004527	Molecular function	Exonuclease activity	IDA	22285541
GO:0004528	Molecular function	Phosphodiesterase I activity	IBA	21873635
GO:0004528	Molecular function	Phosphodiesterase I activity	IDA	27467858
GO:0004551	Molecular function	Nucleotide diphosphatase activity	IBA	21873635
GO:0004551	Molecular function	Nucleotide diphosphatase activity	IDA	12746903
GO:0005158	Molecular function	Insulin receptor binding	IDA	7830796
GO:0005515	Molecular function	Protein binding	IPI	11289049
GO:0005524	Molecular function	ATP binding	IDA	7830796
GO:0042803	Molecular function	Protein homodimerization activity	IDA	7830796, 28964717
GO:0047429	Molecular function	Nucleoside-triphosphate diphosphatase activity	IDA	7830796, 10513816, 11159191, 25344812
GO:0050656	Molecular function	3'-phosphoadenosine 5'-phosphosulfate binding	IC	7830796

Protein Information

Protein Name

Ectonucleotide pyrophosphatase/phosphodiesterase family member 1, 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

Function

Refseq Proteins

NP_006199.2

UniProt

P22413

PDB

2YS0

Pfam

Pfam Accession	Pfam ID
PF01223	Endonuclease_NS
PF01663	Phosphodiest
PF01033	Somatomedin_B