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

Gene ID: 320981, updated on 21-Apr-2024

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
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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_000074.7Genomic Context describing neighboring genes Neighboring gene interferon regulatory factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E6637 Neighboring gene STARR-seq mESC enhancer starr_21394 Neighboring gene STARR-positive B cell enhancer ABC_E10499 Neighboring gene predicted gene, 39170 Neighboring gene STARR-seq mESC enhancer starr_21395 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:48005439-48005671 Neighboring gene STARR-positive B cell enhancer ABC_E2864 Neighboring gene STARR-positive B cell enhancer ABC_E5003 Neighboring gene STARR-positive B cell enhancer ABC_E6638 Neighboring gene predicted gene, 53417 Neighboring gene STARR-seq mESC enhancer starr_21398 Neighboring gene predicted gene, 31231 Neighboring gene STARR-seq mESC enhancer starr_21399 Neighboring gene predicted gene, 51569 Neighboring gene storkhead box 2 Neighboring gene predicted gene, 51570

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

General gene information

Markers

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 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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphoric diester hydrolase activity ISO
Inferred from Sequence Orthology
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
 
acts_upstream_of_or_within 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
 
Component Evidence Code Pubs
located_in extracellular region ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
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

Preferred Names
glycerophosphocholine cholinephosphodiesterase ENPP6
Names
choline-specific glycerophosphodiester phosphodiesterase
ectonucleotide pyrophosphatase/phosphodiesterase family member 6
NP_796278.1
XP_017168350.1

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.

mRNA and Protein(s)

  1. NM_177304.4NP_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:26357
    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

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    47439920..47549797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    D3YU63
    Related
    ENSMUSP00000112633.2, ENSMUST00000119686.2
    Conserved Domains (1) summary
    pfam01663
    Location:26357
    Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase