Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Enpp7provided by MGI
Official Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 7provided by MGI
Primary source: MGI:MGI:3027917
See related: Ensembl:ENSMUSG00000046697 AllianceGenome:MGI:3027917
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm254; NPP-7; E-NPP 7; Alk-SMase
Summary: Enables sphingomyelin phosphodiesterase activity. Involved in several processes, including fatty acid homeostasis; positive regulation of intestinal cholesterol absorption; and regulation of membrane lipid metabolic process. Predicted to be located in Golgi apparatus; microvillus; and plasma membrane. Orthologous to human ENPP7 (ectonucleotide pyrophosphatase/phosphodiesterase 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in small intestine adult (RPKM 379.6), large intestine adult (RPKM 371.9) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 83.33 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (118879007..118884047)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (118988181..118993221)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis.
Title: Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis.
Alkaline sphingomyelinase (NPP7) impacts the homeostasis of intestinal T lymphocyte populations.
Title: Alkaline sphingomyelinase (NPP7) impacts the homeostasis of intestinal T lymphocyte populations.
Deficiency of alkaline SMase enhances dextran sulfate sodium-induced colitis in mice with upregulation of autotaxin
Title: Deficiency of alkaline SMase enhances dextran sulfate sodium-induced colitis in mice with upregulation of autotaxin.
Alkaline sphingomyelinase (NPP7) is a physiological factor promoting cholesterol absorption by reducing sphingomyelin levels in the intestinal lumen.
Title: Alkaline sphingomyelinase (NPP7) promotes cholesterol absorption by affecting sphingomyelin levels in the gut: A study with NPP7 knockout mice.
Results provides convincing evidence that alk-SMase is a physiologic factor that counteracts both initiation and malignant transformation of tumorigenesis in the colon.
Title: Enhanced colonic tumorigenesis in alkaline sphingomyelinase (NPP7) knockout mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Markers

D11Mit337 (e-PCR), detects polymorphism
- UniSTS:126552

D11Mit337.2 (e-PCR), detects polymorphism
- UniSTS:126553

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
NOT enables nucleotidase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables phosphoric diester hydrolase activity	ISO Inferred from Sequence Orthology more info
enables phosphoric diester hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables sphingomyelin phosphodiesterase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables sphingomyelin phosphodiesterase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables sphingomyelin phosphodiesterase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in fatty acid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid digestion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA replication	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ceramide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intestinal cholesterol absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of sphingomyelin catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intestinal lipid absorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sphingomyelin catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in sphingomyelin metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ectonucleotide pyrophosphatase/phosphodiesterase family member 7

Names: alkaline sphingomyelin phosphodiesterase; intestinal alkaline sphingomyelinase

NP_001346503.1

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.

mRNA and Protein(s)

NM_001359574.1 → NP_001346503.1 ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor

Status: VALIDATED

Source sequence(s)

AK144474, BC141245

Consensus CDS

CCDS88293.1

UniProtKB/Swiss-Prot

A2A5N7, D3Z6V6, Q3TIW9

UniProtKB/TrEMBL

B7ZWB9

Related

ENSMUSP00000101880.3, ENSMUST00000106273.3

Conserved Domains (1) summary

cd16018
Location:28 → 393

Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

118879007..118884047

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001030291.1: Suppressed sequence

Description

NM_001030291.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.