• Gene id: 5169

Gene Summary

• Gene Symbol: ENPP3   Gene   UCSC   Ensembl
• Aliases: B10, CD203c, NPP3, PD-IBETA, PDNP3
• Gene name: ectonucleotide pyrophosphatase/phosphodiesterase 3
• Alternate names: ectonucleotide pyrophosphatase/phosphodiesterase family member 3, dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3), dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3), gp130RB13-6, phosphodiesterase I/nucleotide pyrophosphatase 3, phos,
• Gene location: 6q23.2 (46078512: 46215361)     Exons: 26     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the
• OMIM: 602182

Protein Summary

• Protein general information: O14638  
  • Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (E NPP 3) (NPP3) (Phosphodiesterase I beta) (PD Ibeta) (Phosphodiesterase I/nucleotide pyrophosphatase 3) (CD antigen CD203c) [Includes: Alkaline phosphodiesterase I (EC 3.1.4.1); Nucleotide
  • Length: 875  
  • Mass: 100124
  • Tissue specificity: Detected on bile ducts in liver, and in blood serum (at protein level) (PubMed
• Sequence:

  MESTLTLATEQPVKKNTLKKYKIACIVLLALLVIMSLGLGLGLGLRKLEKQGSCRKKCFDASFRGLENCRCDVAC
  KDRGDCCWDFEDTCVESTRIWMCNKFRCGETRLEASLCSCSDDCLQRKDCCADYKSVCQGETSWLEENCDTAQQS
  QCPEGFDLPPVILFSMDGFRAEYLYTWDTLMPNINKLKTCGIHSKYMRAMYPTKTFPNHYTIVTGLYPESHGIID
  NNMYDVNLNKNFSLSSKEQNNPAWWHGQPMWLTAMYQGLKAATYFWPGSEVAINGSFPSIYMPYNGSVPFEERIS
  TLLKWLDLPKAERPRFYTMYFEEPDSSGHAGGPVSARVIKALQVVDHAFGMLMEGLKQRNLHNCVNIILLADHGM
  DQTYCNKMEYMTDYFPRINFFYMYEGPAPRIRAHNIPHDFFSFNSEEIVRNLSCRKPDQHFKPYLTPDLPKRLHY
  AKNVRIDKVHLFVDQQWLAVRSKSNTNCGGGNHGYNNEFRSMEAIFLAHGPSFKEKTEVEPFENIEVYNLMCDLL
  RIQPAPNNGTHGSLNHLLKVPFYEPSHAEEVSKFSVCGFANPLPTESLDCFCPHLQNSTQLEQVNQMLNLTQEEI
  TATVKVNLPFGRPRVLQKNVDHCLLYHREYVSGFGKAMRMPMWSSYTVPQLGDTSPLPPTVPDCLRADVRVPPSE
  SQKCSFYLADKNITHGFLYPPASNRTSDSQYDALITSNLVPMYEEFRKMWDYFHSVLLIKHATERNGVNVVSGPI
  FDYNYDGHFDAPDEITKHLANTDVPIPTHYFVVLTSCKNKSHTPENCPGWLDVLPFIIPHRPTNVESCPEGKPEA
  LWVEERFTAHIARVRDVELLTGLDFYQDKVQPVSEILQLKTYLPTFETTI

• Structural information:
  • Protein Domains: (50..9-)
    (/note="SMB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350-)
    (94..13-)
    (/note="SMB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350"-)
  • Interpro: IPR017850  IPR001604  IPR020821  IPR002591  IPR036024   IPR001212  
  • Prosite: PS00524 PS50958
  • PDB: 6C01 6C02
  • PDBsum: 6C01 6C02
  • STRING: ENSP00000406261
• Other Databases: GeneCards:  ENPP3  Malacards:  ENPP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047429	nucleoside-triphosphate diphosphatase activity	IBA	molecular function
GO:0009143	nucleoside triphosphate catabolic process	IBA	biological process
GO:0046034	ATP metabolic process	IDA	biological process
GO:0047429	nucleoside-triphosphate diphosphatase activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0033007	negative regulation of mast cell activation involved in immune response	ISS	biological process
GO:0070667	negative regulation of mast cell proliferation	ISS	biological process
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0002276	basophil activation involved in immune response	ISS	biological process
GO:0006220	pyrimidine nucleotide metabolic process	IMP	biological process
GO:0004528	phosphodiesterase I activity	IMP	molecular function
GO:0016787	hydrolase activity	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:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004551	nucleotide diphosphatase activity	IEA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0004528	phosphodiesterase I activity	IEA	molecular function
GO:0036218	dTTP diphosphatase activity	IEA	molecular function
GO:0035529	NADH pyrophosphatase activity	IEA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0046034	ATP metabolic process	IEA	biological process
GO:0033007	negative regulation of mast cell activation involved in immune response	IEA	biological process
GO:0070667	negative regulation of mast cell proliferation	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0002276	basophil activation involved in immune response	IEA	biological process
GO:0047429	nucleoside-triphosphate diphosphatase activity	IDA	molecular function
GO:0006796	phosphate-containing compound metabolic process	IDA	biological process
GO:0030505	inorganic diphosphate transport	IDA	NOT|biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0009143	nucleoside triphosphate catabolic process	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	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
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq