ENPP7 (ectonucleotide pyrophosphatase/phosphodiesterase 7)

Gene

• Entrez ID: 339221
• Gene name: Ectonucleotide pyrophosphatase/phosphodiesterase 7
• Gene symbol: ENPP7
• Synonyms (NCBI Gene): ALK-SMase, E-NPP 7, NPP-7, NPP7
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1985766	hsa-miR-1471	CLIP-seq
MIRT1985767	hsa-miR-4783-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IDA	12671034, 12885774, 16255717, 28292932
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IEA
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005794	Component	Golgi apparatus	IDA	12671034
GO:0005886	Component	Plasma membrane	IDA	15205117
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IDA	12671034
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006684	Process	Sphingomyelin metabolic process	IDA	12671034, 12885774, 28292932
GO:0008081	Function	Phosphoric diester hydrolase activity	IBA
GO:0008081	Function	Phosphoric diester hydrolase activity	IDA	16255717
GO:0008156	Process	Negative regulation of DNA replication	IDA	12671034
GO:0008270	Function	Zinc ion binding	IDA	28292932
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	12671034
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12885774
GO:0016787	Function	Hydrolase activity	IEA
GO:0044241	Process	Lipid digestion	ISS
GO:0045797	Process	Positive regulation of intestinal cholesterol absorption	ISS
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0055089	Process	Fatty acid homeostasis	ISS
GO:1904729	Process	Regulation of intestinal lipid absorption	ISS
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	ISS
GO:2000755	Process	Positive regulation of sphingomyelin catabolic process	ISS

Other IDs

• MIM: 616997
• HGNC: 23764
• e!Ensembl: ENSG00000182156

Protein

• UniProt ID: Q6UWV6
• Protein 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)
• Protein function: Choline-specific phosphodiesterase that hydrolyzes sphingomyelin releasing the ceramide and phosphocholine and therefore is involved in sphingomyelin digestion, ceramide formation, and fatty acid (FA) absorption in the gastrointestinal tract (Pu
• PDB: 5TCD, 5UDY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01663	Phosphodiest	33 → 356	Type I phosphodiesterase / nucleotide pyrophosphatase	Family

• Tissue specificity: 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:0000269|PubMed:12671034, ECO:0000269|PubMed:128857
• Sequence:

  MRGLAVLLTVALATLLAPGAGAPVQSQGSQNKLLLVSFDGFRWNYDQDVDTPNLDAMARD
  GVKARYMTPAFVTMTSPCHFTLVTGKYIENHGVVHNMYYNTTSKVKLPYHATLGIQRWWD
  NGSVPIWITAQRQGLRAGSFFYPGGNVTYQGVAVTRSRKEGIAHNYKNETEWRANIDTVM
  AWFTEEDLDLVTLYFGEPDSTGHRYGPESPERREMVRQVDRTVGYLRESIARNHLTDRLN
  LIITSDHGMTTVDKRAGDLVEFHKFPNFTFRDIEFELLDYGPNGMLLPKEGRLEKVYDAL
  KDAHPKLHVYKKEAFPEAFHYANNPRVTPLLMYSDLGYVIHGRINVQFNNGEHGFDNKDM
  DMKTIFRAVGPSFRAGLEVEPFESVHVYELMCRLLGIVPEANDGHLATLLPMLHTESALP
  PDGRPTLLPKGRSALPPSSRPLLVMGLLGTVILLSEVA

• Sequence length: 458

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways

Reactome:

Glycosphingolipid metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	12774245		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12774245		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16631405		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16631405		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12671034, 15016655, 16631405		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10496347	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15016655, 16255717		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12671034	Inhibit	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18955860		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32229654	Associate	★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12671034, 15016655, 16631405		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12774245		★☆☆☆☆ Found in Text Mining only