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

    Gene ID: 133121, updated on 10-Dec-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, Dec 2024]
    Expression
    Biased expression in kidney (RPKM 13.7), ovary (RPKM 7.0) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENPP6 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (184088706..184217873, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (187432563..187561688, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952
    4. 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
    5. 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

    See all (15) 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)

    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_2024_08

    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.

    Chemical Information
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