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    ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 [ Homo sapiens (human) ]

    Gene ID: 22875, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ENPP4provided by HGNC
    Official Full Name
    ectonucleotide pyrophosphatase/phosphodiesterase 4provided by HGNC
    Primary source
    HGNC:HGNC:3359
    See related
    Ensembl:ENSG00000001561 MIM:617000; AllianceGenome:HGNC:3359
    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
    NPP4
    Summary
    Enables bis(5'-adenosyl)-triphosphatase activity. Involved in positive regulation of blood coagulation and purine ribonucleoside catabolic process. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.7), brain (RPKM 14.1) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See ENPP4 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46129989..46146688)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (45965077..45981776)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46097726..46114425)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 5 Neighboring gene uncharacterized LOC124901326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:45928377-45928876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:45982710-45983554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:45983555-45984399 Neighboring gene RNA, U6 small nuclear 754, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17269 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase family member 5 Neighboring gene actin gamma 1 pseudogene 9

    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. Molecular basis of purinergic signal metabolism by ectonucleotide pyrophosphatase/phosphodiesterases 4 and 1 and implications in stroke. Albright RA, et al. J Biol Chem, 2014 Feb 7. PMID 24338010, Free PMC Article
    2. NPP4 is a procoagulant enzyme on the surface of vascular endothelium. Albright RA, et al. Blood, 2012 Nov 22. PMID 22995898, Free PMC Article
    3. Structural and catalytic similarities between nucleotide pyrophosphatases/phosphodiesterases and alkaline phosphatases. Gijsbers R, et al. J Biol Chem, 2001 Jan 12. PMID 11027689
    4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Dec 31. PMID 10048485
    5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The combined studies expand our understanding of NPP1 and NPP4 substrate specificity and range and provide a rational mechanism by which polymorphisms in NPP1 confer stroke resistance.
      Title: Molecular basis of purinergic signal metabolism by ectonucleotide pyrophosphatase/phosphodiesterases 4 and 1 and implications in stroke.
    2. NPP4 promotes hemostasis in vivo by augmenting ADP-mediated platelet aggregation at the site of vascular injury.
      Title: NPP4 is a procoagulant enzyme on the surface of vascular endothelium.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0879

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bis(5'-adenosyl)-triphosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in purine ribonucleoside catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    bis(5'-adenosyl)-triphosphatase ENPP4
    Names
    AP3A hydrolase
    AP3Aase
    E-NPP 4
    NPP-4
    ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function)
    ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)
    ectonucleotide pyrophosphatase/phosphodiesterase family member 4
    NP_055751.1

    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_014936.5 → NP_055751.1  bis(5'-adenosyl)-triphosphatase ENPP4 precursor

      See identical proteins and their annotated locations for NP_055751.1

      Status: VALIDATED

      Source sequence(s)
      AB020686, CA433087, DA261977
      Consensus CDS
      CCDS34468.1
      UniProtKB/Swiss-Prot
      A8K5G1, Q7L2N1, Q9Y6X5
      Related
      ENSP00000318066.3, ENST00000321037.5
      Conserved Domains (2) summary
      pfam01663
      Location:28 → 339
      Phosphodiest; Type I phosphodiesterase / nucleotide pyrophosphatase
      cd16018
      Location:26 → 379
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      46129989..46146688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      45965077..45981776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6X5.3 GenPept UniProtKB/Swiss-Prot:Q9Y6X5

    Gene LinkOut

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

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