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ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 [ Homo sapiens (human) ]

Gene ID: 133121, updated on 5-Mar-2024

Summary

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Official Symbol
ENPP6provided by HGNC
Official Full Name
ectonucleotide pyrophosphatase/phosphodiesterase 6provided by HGNC
Primary source
HGNC:HGNC:23409
See related
Ensembl:ENSG00000164303 MIM:616983; AllianceGenome:HGNC:23409
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
NPP6
Summary
Enables glycerophosphocholine cholinephosphodiesterase activity. Involved in choline metabolic process and lipid metabolic process. Located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney (RPKM 13.7), ovary (RPKM 7.0) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
4q35.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (184088706..184217873, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (187432563..187561688, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185009859..185139026, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986330 Neighboring gene very low density lipoprotein receptor pseudogene Neighboring gene uncharacterized LOC124900826 Neighboring gene Sharpr-MPRA regulatory region 1728 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:185088565-185089336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185091897-185092398 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185129666-185130259 Neighboring gene uncharacterized LOC105377582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22190 Neighboring gene uncharacterized LOC105377584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22191 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185189051-185190250 Neighboring gene ribosomal protein L6 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22194

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family. Sakagami H, et al. J Biol Chem, 2005 Jun 17. PMID 15788404
  2. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. Gonzales PA, et al. J Am Soc Nephrol, 2009 Feb. PMID 19056867, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NPP6 has a specific role through the hydrolysis of polyunsaturated LPC, glycerophosphorylcholine, or sphingosylphosphorylcholine in kidney and brain
    Title: Biochemical and molecular characterization of a novel choline-specific glycerophosphodiester phosphodiesterase belonging to the nucleotide pyrophosphatase/phosphodiesterase family.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33971

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycerophosphocholine cholinephosphodiesterase activity EXP
Inferred from Experiment
more info
 PubMed 
enables glycerophosphocholine cholinephosphodiesterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycerophosphodiester phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphoric diester hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in choline metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in choline metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycerophospholipid catabolic process TAS
Traceable Author Statement
more info
  
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
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 TAS
Traceable Author Statement
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
B830047L21Rik
E-NPP 6
GPC-Cpde
NPP-6
choline-specific glycerophosphodiester phosphodiesterase
ectonucleotide pyrophosphatase/phosphodiesterase family member 6
NP_699174.1

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_153343.4 → NP_699174.1  glycerophosphocholine cholinephosphodiesterase ENPP6 precursor

    See identical proteins and their annotated locations for NP_699174.1

    Status: VALIDATED

    Source sequence(s)
    AC079080, AC107222, BC035035
    Consensus CDS
    CCDS3834.1
    UniProtKB/Swiss-Prot
    Q4W5Q1, Q6UWR7, Q96M57
    Related
    ENSP00000296741.2, ENST00000296741.7
    Conserved Domains (1) summary
    cd16018
    Location:24 → 397
    Enpp; Ectonucleotide pyrophosphatase/phosphodiesterase, also called autotaxin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    184088706..184217873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    187432563..187561688 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UWR7.2 GenPept UniProtKB/Swiss-Prot:Q6UWR7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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