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

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

human alkaline sphingomyelinase crystal structure provides insights into substrate recognition
Title: Crystal structure of the human alkaline sphingomyelinase provides insights into substrate recognition.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104297 (e-PCR)
- UniSTS:98622

SHGC-154261 (e-PCR)
- UniSTS:178043

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

EC 3.1.4.12

XP_011523039.2

EC 3.1.4.12

XP_054171910.1

EC 3.1.4.12

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

NG_051988.1 RefSeqGene

Range

5025..16301

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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