• Gene id: 339221

Gene Summary

• Gene Symbol: ENPP7   Gene   UCSC   Ensembl
• Aliases: ALK-SMase, E-NPP 7, NPP-7, NPP7
• Gene name: ectonucleotide pyrophosphatase/phosphodiesterase 7
• Alternate names: ectonucleotide pyrophosphatase/phosphodiesterase family member 7, alkaline sphingomyelin phosphodiesterase, alkaline sphingomyelinase, intestinal alkaline sphingomyelinase,
• Gene location: 17q25.3 (79730918: 79742925)     Exons: 6     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal muco
• OMIM: 614271

Protein Summary

• Protein general information: Q6UWV6  
  • Name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 (E NPP 7) (NPP 7) (EC 3.1.4.12) (Alkaline sphingomyelin phosphodiesterase) (Intestinal alkaline sphingomyelinase) (Alk SMase)
  • Length: 458  
  • Mass: 51494
  • Tissue specificity: Detected in the colon (at protein level). Expressed in the duodenum, jejunum and liver and at low levels in the ileum. Expression was very low in the esophagus, stomach and colon. {ECO
• Sequence:

  MRGLAVLLTVALATLLAPGAGAPVQSQGSQNKLLLVSFDGFRWNYDQDVDTPNLDAMARDGVKARYMTPAFVTMT
  SPCHFTLVTGKYIENHGVVHNMYYNTTSKVKLPYHATLGIQRWWDNGSVPIWITAQRQGLRAGSFFYPGGNVTYQ
  GVAVTRSRKEGIAHNYKNETEWRANIDTVMAWFTEEDLDLVTLYFGEPDSTGHRYGPESPERREMVRQVDRTVGY
  LRESIARNHLTDRLNLIITSDHGMTTVDKRAGDLVEFHKFPNFTFRDIEFELLDYGPNGMLLPKEGRLEKVYDAL
  KDAHPKLHVYKKEAFPEAFHYANNPRVTPLLMYSDLGYVIHGRINVQFNNGEHGFDNKDMDMKTIFRAVGPSFRA
  GLEVEPFESVHVYELMCRLLGIVPEANDGHLATLLPMLHTESALPPDGRPTLLPKGRSALPPSSRPLLVMGLLGT
  VILLSEVA

• Structural information:
  • Interpro: IPR017850  IPR029895  IPR002591  
  • PDB: 5TCD 5UDY
  • PDBsum: 5TCD 5UDY
  • STRING: ENSP00000332656
• Other Databases: GeneCards:  ENPP7  Malacards:  ENPP7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004767	sphingomyelin phosphodiesterase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0006684	sphingomyelin metabolic process	IDA	biological process
GO:0008081	phosphoric diester hydrolase activity	IDA	molecular function
GO:0044241	lipid digestion	ISS	biological process
GO:2000755	positive regulation of sphingomyelin catabolic process	ISS	biological process
GO:2000304	positive regulation of ceramide biosynthetic process	ISS	biological process
GO:0045797	positive regulation of intestinal cholesterol absorption	ISS	biological process
GO:0055089	fatty acid homeostasis	ISS	biological process
GO:1904729	regulation of intestinal lipid absorption	ISS	biological process
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	TAS	molecular function
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006684	sphingomyelin metabolic process	IDA	biological process
GO:0006684	sphingomyelin metabolic process	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005902	microvillus	IDA	cellular component
GO:0008156	negative regulation of DNA replication	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IDA	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	IDA	molecular function
GO:0016020	membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid 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