• Gene id: 5167

Gene Summary

• Gene Symbol: ENPP1   Gene   UCSC   Ensembl
• Aliases: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
• Gene name: ectonucleotide pyrophosphatase/phosphodiesterase 1
• Alternate names: 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, pla,
• Gene location: 6q23.2 (131808019: 131895154)     Exons: 25     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 173335

Protein Summary

• Protein general information: P22413  
  • Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E NPP 1) (Membrane component chromosome 6 surface marker 1) (Phosphodiesterase I/nucleotide pyrophosphatase 1) (Plasma cell membrane glycoprotein PC 1) [Cleaved into: Ectonucleotide pyropho
  • Length: 925  
  • Mass: 104924
  • Tissue specificity: Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis (PubMed
• Sequence:

  MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPLEKAARARTAKDPNTY
  KVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNCRCDAACVELGNCCLDYQETCIEPEHIWTCN
  KFRCGEKRLTRSLCACSDDCKDKGDCCINYSSVCQGEKSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYL
  HTWGGLLPVISKLKKCGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEW
  YKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLPKDERPHFYTLYLEEP
  DSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLILISDHGMEQGSCKKYIYLNKYLGDVKNIKVI
  YGPAARLRPSDVPDKYYSFNYEGIARNLSCREPNQHFKPYLKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPS
  ERKYCGSGFHGSDNVFSNMQALFVGYGPGFKHGIEADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVY
  TPKHPKEVHPLVQCPFTRNPRDNLGCSCNPSILPIEDFQTQFNLTVAEEKIIKHETLPYGRPRVLQKENTICLLS
  QHQFMSGYSQDILMPLWTSYTVDRNDSFSTEDFSNCLYQDFRIPLSPVHKCSFYKNNTKVSYGFLSPPQLNKNSS
  GIYSEALLTTNIVPMYQSFQVIWRYFHDTLLRKYAEERNGVNVVSGPVFDFDYDGRCDSLENLRQKRRVIRNQEI
  LIPTHFFIVLTSCKDTSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEELLMLHRARITDVEHITGLSF
  YQQRKEPVSDILKLKTHLPTFSQED

• Structural information:
  • Protein Domains: (104..14-)
    (/note="SMB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350-)
    (145..18-)
    (/note="SMB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350"-)
  • Interpro: IPR017850  IPR001604  IPR029890  IPR020821  IPR002591   IPR036024  IPR020436  IPR001212  
  • Prosite: PS00524 PS50958
  • PDB: 2YS0
  • PDBsum: 2YS0
  • STRING: ENSP00000354238
• Other Databases: GeneCards:  ENPP1  Malacards:  ENPP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004551	nucleotide diphosphatase activity	IBA	molecular function
GO:0030505	inorganic diphosphate transport	IBA	biological process
GO:0045599	negative regulation of fat cell differentiation	IBA	biological process
GO:0046034	ATP metabolic process	IBA	biological process
GO:0004528	phosphodiesterase I activity	IBA	molecular function
GO:0009143	nucleoside triphosphate catabolic process	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0030500	regulation of bone mineralization	IBA	biological process
GO:0106177	cyclic-GMP-AMP hydrolase activity	IDA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004528	phosphodiesterase I activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0008270	zinc ion binding	ISS	molecular function
GO:0046034	ATP metabolic process	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:1990787	negative regulation of hh target transcription factor activity	ISS	biological process
GO:0030502	negative regulation of bone mineralization	ISS	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0004528	phosphodiesterase I activity	ISS	molecular function
GO:0030318	melanocyte differentiation	IMP	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030247	polysaccharide binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005044	scavenger receptor activity	IEA	molecular function
GO:0006955	immune response	IEA	biological process
GO:0031214	biomineral tissue development	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0004551	nucleotide diphosphatase activity	IEA	molecular function
GO:0036218	dTTP diphosphatase activity	IEA	molecular function
GO:0035529	NADH pyrophosphatase activity	IEA	molecular function
GO:0004528	phosphodiesterase I activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006771	riboflavin metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004551	nucleotide diphosphatase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IDA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IDA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IDA	molecular function
GO:0005158	insulin receptor binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0050656	3'-phosphoadenosine 5'-phosphosulfate binding	IC	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006091	generation of precursor metabolites and energy	IDA	biological process
GO:0006796	phosphate-containing compound metabolic process	IDA	biological process
GO:0006796	phosphate-containing compound metabolic process	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0030505	inorganic diphosphate transport	IDA	biological process
GO:0030643	cellular phosphate ion homeostasis	IDA	biological process
GO:0031953	negative regulation of protein autophosphorylation	IDA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0045599	negative regulation of fat cell differentiation	IDA	biological process
GO:0016323	basolateral plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009143	nucleoside triphosphate catabolic process	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0030500	regulation of bone mineralization	IC	biological process
GO:0030730	sequestering of triglyceride	IDA	biological process
GO:0045719	negative regulation of glycogen biosynthetic process	IDA	biological process
GO:0046325	negative regulation of glucose import	IDA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IDA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IDA	biological process
GO:0050427	3'-phosphoadenosine 5'-phosphosulfate metabolic process	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IDA	biological process
GO:0004527	exonuclease activity	IDA	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism
hsa00760	Nicotinate and nicotinamide metabolism
hsa00500	Starch and sucrose metabolism
hsa00770	Pantothenate and CoA biosynthesis
hsa00740	Riboflavin metabolism

Diseases

Associated diseases	References
Genetic obesity	KEGG:H02106
Type 2 diabetes mellitus	KEGG:H00409
Hypophosphatemic rickets	KEGG:H00214
Ossification of the posterior longitudinal ligament of spine	KEGG:H00431
Generalized arterial calcification of infancy	KEGG:H01002
Cole disease	KEGG:H01394
Autosomal recessive hypophosphatemic rickets	KEGG:H02139
Genetic obesity	KEGG:H02106
Type 2 diabetes mellitus	KEGG:H00409
Hypophosphatemic rickets	KEGG:H00214
Ossification of the posterior longitudinal ligament of spine	KEGG:H00431
Generalized arterial calcification of infancy	KEGG:H01002
Cole disease	KEGG:H01394
Autosomal recessive hypophosphatemic rickets	KEGG:H02139
Ossification of the posterior longitudinal ligament of spine	PMID:15834329
cardiovascular system disease	PMID:21282363
Glioblastoma multiforme	PMID:21195542
type 2 diabetes mellitus	PMID:16025115
obesity	PMID:16025115
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881