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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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