• Gene id: 133121

Gene Summary

• Gene Symbol: ENPP6   Gene   UCSC   Ensembl
• Aliases: NPP6
• Gene name: ectonucleotide pyrophosphatase/phosphodiesterase 6
• Alternate names: glycerophosphocholine cholinephosphodiesterase ENPP6, B830047L21Rik, E-NPP 6, GPC-Cpde, NPP-6, choline-specific glycerophosphodiester phosphodiesterase, ectonucleotide pyrophosphatase/phosphodiesterase family member 6, glycerophosphocholine cholinephosphodiester,
• Gene location: 4q35.1 (184217872: 184088705)     Exons: 8     NC_000004.12

Protein Summary

• Protein general information: Q6UWR7  
  • Name: Glycerophosphocholine cholinephosphodiesterase ENPP6 (GPC Cpde) (EC 3.1.4. ) (EC 3.1.4.38) (Choline specific glycerophosphodiester phosphodiesterase) (Ectonucleotide pyrophosphatase/phosphodiesterase family member 6) (E NPP 6) (NPP 6)
  • Length: 440  
  • Mass: 50241
  • Tissue specificity: Predominantly expressed in kidney and brain. In the kidney, expressed specifically in the proximal tubules and thin descending limbs of Henle (at protein level). {ECO
• Sequence:

  MAVKLGTLLLALALGLAQPASARRKLLVFLLDGFRSDYISDEALESLPGFKEIVSRGVKVDYLTPDFPSLSYPNY
  YTLMTGRHCEVHQMIGNYMWDPTTNKSFDIGVNKDSLMPLWWNGSEPLWVTLTKAKRKVYMYYWPGCEVEILGVR
  PTYCLEYKNVPTDINFANAVSDALDSFKSGRADLAAIYHERIDVEGHHYGPASPQRKDALKAVDTVLKYMTKWIQ
  ERGLQDRLNVIIFSDHGMTDIFWMDKVIELNKYISLNDLQQVKDRGPVVSLWPAPGKHSEIYNKLSTVEHMTVYE
  KEAIPSRFYYKKGKFVSPLTLVADEGWFITENREMLPFWMNSTGRREGWQRGWHGYDNELMDMRGIFLAFGPDFK
  SNFRAAPIRSVDVYNVMCNVVGITPLPNNGSWSRVMCMLKGRASTAPPVWPSHCALALILLFLLA

• Structural information:
  • Interpro: IPR017850  IPR029889  IPR002591  
  • STRING: ENSP00000296741
• Other Databases: GeneCards:  ENPP6  Malacards:  ENPP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0006629	lipid metabolic process	IBA	biological process
GO:0008889	glycerophosphodiester phosphodiesterase activity	IBA	molecular function
GO:0019695	choline metabolic process	IBA	biological process
GO:0047390	glycerophosphocholine cholinephosphodiesterase activity	IDA	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0019695	choline metabolic process	IDA	biological process
GO:0008081	phosphoric diester hydrolase activity	IDA	molecular function
GO:0006629	lipid metabolic process	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0047390	glycerophosphocholine cholinephosphodiesterase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0047390	glycerophosphocholine cholinephosphodiesterase activity	IEA	molecular function
GO:0047390	glycerophosphocholine cholinephosphodiesterase activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0046475	glycerophospholipid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0019695	choline metabolic process	IEA	biological process
GO:0008889	glycerophosphodiester phosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0047390	glycerophosphocholine cholinephosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq