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ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 [ Homo sapiens (human) ]

Gene ID: 339221, updated on 2-Nov-2024

Summary

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Official Symbol
ENPP7provided by HGNC
Official Full Name
ectonucleotide pyrophosphatase/phosphodiesterase 7provided by HGNC
Primary source
HGNC:HGNC:23764
See related
Ensembl:ENSG00000182156 MIM:616997; AllianceGenome:HGNC:23764
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPP7; NPP-7; E-NPP 7; ALK-SMase
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 mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
Expression
Biased expression in small intestine (RPKM 36.1), duodenum (RPKM 15.1) and 1 other tissue See more
Orthologs
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Genomic context

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See ENPP7 in Genome Data Viewer
Location:
17q25.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79730943..79742219)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (80628701..80640020)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77704705..77716018)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77680917-77681538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77681539-77682160 Neighboring gene long intergenic non-protein coding RNA 2078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77684903-77685452 Neighboring gene uncharacterized LOC124904133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77690645-77691144 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:77701584-77702544 and GRCh37_chr17:77702545-77703504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77721486-77722425 Neighboring gene uncharacterized LOC124904070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77733899-77734400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77736115-77736615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77752607-77753200 Neighboring gene chromobox 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of one exon deletion of intestinal alkaline sphingomyelinase in colon cancer HT-29 cells and a differentiation-related expression of the wild-type enzyme in Caco-2 cells. Wu J, et al. Carcinogenesis, 2004 Aug. PMID 15016655
  2. Changes of activity and isoforms of alkaline sphingomyelinase (nucleotide pyrophosphatase phosphodiesterase 7) in bile from patients undergoing endoscopic retrograde cholangiopancreatography. Duan RD, et al. BMC Gastroenterol, 2014 Aug 7. PMID 25100243, Free PMC Article
  3. Computational identification and experimental characterization of substrate binding determinants of nucleotide pyrophosphatase/phosphodiesterase 7. Parrill AL, et al. BMC Biochem, 2011 Dec 16. PMID 22177013, Free PMC Article
  4. Understanding the molecular activity of alkaline sphingomyelinase (NPP7) by computer modeling. Duan J, et al. Biochemistry, 2010 Oct 26. PMID 20839774
  5. Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis. Wu J, et al. Biochem J, 2005 Feb 15. PMID 15458386, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. human alkaline sphingomyelinase crystal structure provides insights into substrate recognition
    Title: Crystal structure of the human alkaline sphingomyelinase provides insights into substrate recognition.
  2. NPP7 activity and the ratio of 1.4/1.2 kb products in bile are significantly decreased in malignancy, particularly in cholangiocarcinoma.
    Title: Changes of activity and isoforms of alkaline sphingomyelinase (nucleotide pyrophosphatase phosphodiesterase 7) in bile from patients undergoing endoscopic retrograde cholangiopancreatography.
  3. The F275A mutation of NPP7 showed impaired catalytic function whereas L107F mutation showed enhanced catalytic activity.
    Title: Computational identification and experimental characterization of substrate binding determinants of nucleotide pyrophosphatase/phosphodiesterase 7.
  4. predict the three-dimensional structure of NPP7 by homology modeling using a recently crystallized NPP from bacteria. Using the model, we studied the substrate specificity of the enzyme by docking.
    Title: Understanding the molecular activity of alkaline sphingomyelinase (NPP7) by computer modeling.
  5. alk-SMase activity is severely affected by defective N-glycosylation at 5 sites and by structural alterations of the putative metal-binding sites and the predicted active core.
    Title: Functional studies of human intestinal alkaline sphingomyelinase by deglycosylation and mutagenesis.
  6. Results describe the cloning of rat alkaline sphingomyelinase from rat intestine, comparison to the human sequence, adjustment of the putative protein in GenBank, and confirmation of the specific expression of the gene in the small intestine.
    Title: Cloning of alkaline sphingomyelinase from rat intestinal mucosa and adjusting of the hypothetical protein XP_221184 in GenBank.
  7. identified the amino acid and cDNA sequences of human intestinal alk-SMase, and found that it is a novel ecto-enzyme related to the ecto-nucleotide phosphodiesterase family with specific features essential for its SMase activity
    Title: Identification of human intestinal alkaline sphingomyelinase as a novel ecto-enzyme related to the nucleotide phosphodiesterase family.
  8. intestinal alkaline sphingomyelinase may have a one-exon deletion in colon cancer cells
    Title: Identification of one exon deletion of intestinal alkaline sphingomyelinase in colon cancer HT-29 cells and a differentiation-related expression of the wild-type enzyme in Caco-2 cells.
  9. Alkaline sphingomyelinase hydrolyses and inactivates PAF by a phospholipase C activity, a novel function by which it may counteract the development of intestinal inflammation and colon cancer.
    Title: Intestinal alkaline sphingomyelinase hydrolyses and inactivates platelet-activating factor by a phospholipase C activity.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC50179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphoric diester hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sphingomyelin phosphodiesterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sphingomyelin phosphodiesterase activity TAS
Traceable Author Statement
more info
  
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in fatty acid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycosphingolipid catabolic process TAS
Traceable Author Statement
more info
  
involved_in lipid digestion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ceramide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of intestinal cholesterol absorption ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of sphingomyelin catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of intestinal lipid absorption ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sphingomyelin metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in microvillus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ectonucleotide pyrophosphatase/phosphodiesterase family member 7
Names
alkaline sphingomyelin phosphodiesterase
alkaline sphingomyelinase
intestinal alkaline sphingomyelinase
NP_848638.3
XP_011523039.2
XP_054171910.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051988.1 RefSeqGene

    Range
    5025..16301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178543.5 → NP_848638.3  ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor

    See identical proteins and their annotated locations for NP_848638.3

    Status: REVIEWED

    Source sequence(s)
    AC233701, BC041453, DB187443
    Consensus CDS
    CCDS11763.1
    UniProtKB/Swiss-Prot
    Q6UWV6, Q6ZTS5, Q8IUS8
    Related
    ENSP00000332656.5, ENST00000328313.10
    Conserved Domains (1) summary
    cd16018
    Location:31 → 396
    Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    79730943..79742219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524737.2 → XP_011523039.2  ectonucleotide pyrophosphatase/phosphodiesterase family member 7 isoform X1

RNA

  1. XR_001752505.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    80628701..80640020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315935.1 → XP_054171910.1  ectonucleotide pyrophosphatase/phosphodiesterase family member 7 isoform X1

RNA

  1. XR_008484815.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UWV6.4 GenPept UniProtKB/Swiss-Prot:Q6UWV6

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