Enpp6 ectonucleotide pyrophosphatase/phosphodiesterase 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Enpp6provided by MGI
Official Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 6provided by MGI
Primary source: MGI:MGI:2445171
See related: Ensembl:ENSMUSG00000038173 AllianceGenome:MGI:2445171
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Npp6; E-NPP 6; GPC-Cpde; D8Ertd514e; 4833421B01Rik; B830047L21Rik
Summary: This gene encodes a member of the nucleotide pyrophosphatase/phosphodiesterase family of enzymes that play an important role in regulating extracellular nucleotide metabolism. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol (GPI)-anchored membrane protein that hydrolyzes choline-containing lysophospholipids such as glycerophosphocholine. Mice lacking the encoded protein develop fatty liver and myelin sheath abnormalities. [provided by RefSeq, Jul 2016]
Expression: Biased expression in kidney adult (RPKM 11.3), cerebellum adult (RPKM 1.7) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B1.1; 8 26.48 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (47439920..47549797)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (46939197..47096762)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

The crystal structure of ENPP6 in complex with phosphocholine revealed that the choline moiety of the phosphocholine is recognized by a choline-binding pocket formed by conserved aromatic and acidic residues. The present study provides the molecular basis for ENPP6-mediated choline metabolism at atomic, cellular and tissue levels.
Title: Structure and biological function of ENPP6, a choline-specific glycerophosphodiester-phosphodiesterase.
NPP6 has a specific role through the hydrolysis of polyunsaturated LPC, glycerophosphorylcholine, or sphingosylphosphorylcholine in kidney, brain and heart
Title: Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MHAa97c12.seq (e-PCR)
- UniSTS:125457

NoName (e-PCR)
- UniSTS:235887

AU022124 (e-PCR)
- UniSTS:167574

D8Dcr15 (e-PCR), detects polymorphism
- UniSTS:507821

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glycerophosphocholine cholinephosphodiesterase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glycerophosphocholine cholinephosphodiesterase activity	ISO Inferred from Sequence Orthology more info
enables glycerophosphocholine cholinephosphodiesterase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glycerophosphodiester phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycerophosphodiester phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in choline metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within choline metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in choline metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in choline metabolic process	ISO Inferred from Sequence Orthology more info
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: glycerophosphocholine cholinephosphodiesterase ENPP6

Names: choline-specific glycerophosphodiester phosphodiesterase; ectonucleotide pyrophosphatase/phosphodiesterase family member 6

NP_796278.1

EC 3.1.4.38

XP_017168350.1

EC 3.1.4.38

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_177304.4 → NP_796278.1 glycerophosphocholine cholinephosphodiesterase ENPP6 preproprotein

See identical proteins and their annotated locations for NP_796278.1

Status: REVIEWED

Source sequence(s)

AC123751, AC160460, AK046797, BE991175

Consensus CDS

CCDS40335.1

UniProtKB/Swiss-Prot

Q4VAH5, Q8BGN3

UniProtKB/TrEMBL

D3YU63

Related

ENSMUSP00000044608.8, ENSMUST00000039840.15

Conserved Domains (1) summary

pfam01663
Location:26 → 357

Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase

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_000074.7 Reference GRCm39 C57BL/6J

Range

47439920..47549797

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017312861.2 → XP_017168350.1 glycerophosphocholine cholinephosphodiesterase ENPP6 isoform X1

UniProtKB/TrEMBL

D3YU63

Related

ENSMUSP00000112633.2, ENSMUST00000119686.2

Conserved Domains (1) summary

pfam01663
Location:26 → 357

Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase