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

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Summary

Official Symbol: ENPP7provided by HGNC
Official Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 7provided by HGNC
Primary source: HGNC:23764
Locus tag: UNQ3077/PRO9912
See related: Ensembl:ENSG00000182156
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALK-SMase; MGC50179

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Genomic context

Location :: 17q25.3

Sequence :: Chromosome: 17; NC_000017.10 (77704882..77716021)

See ENPP7 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:130844	BioGRID:113164	UBC		BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
hydrolase activity	IEA Inferred from Electronic Annotation more info
sphingomyelin phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
glycosphingolipid metabolic process	TAS Traceable Author Statement more info
negative regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
sphingolipid metabolic process	TAS Traceable Author Statement more info
sphingomyelin metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	NAS Non-traceable Author Statement more info	PubMed
microvillus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: ectonucleotide pyrophosphatase/phosphodiesterase family member 7

Names: ectonucleotide pyrophosphatase/phosphodiesterase family member 7; NPP-7; E-NPP 7; alkaline sphingomyelinase; intestinal alkaline sphingomyelinase; alkaline sphingomyelin phosphodiesterase

NP_848638.2

EC 3.1.4.12

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_178543.3 → NP_848638.2 ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor

Status: VALIDATED

Source sequence(s)

AY358622, BC041453

Consensus CDS

CCDS11763.1

UniProtKB/Swiss-Prot

Q6UWV6

Related

ENSP00000332656, ENST00000328313

Conserved Domains (2) summary

pfam01663
Location:33 – 356
Blast Score: 687

Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

cl10460
Location:30 – 248
Blast Score: 98

Sulfatase; Sulfatase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

77704882..77716021

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

73145753..73156851

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC105337.7 (64947..76086)	None
genomic	CH471099.1	EAW89566.1
mRNA	AK126250.1	BAC86504.1
mRNA	AK128662.1	None
mRNA	AY230663.1	AAP69661.1
mRNA	AY358622.1	AAQ88985.1
mRNA	BC041453.1	AAH41453.2