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    ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 [ Homo sapiens (human) ]

    Gene ID: 377841, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ENTPD8provided by HGNC
    Official Full Name
    ectonucleoside triphosphate diphosphohydrolase 8provided by HGNC
    Primary source
    HGNC:HGNC:24860
    See related
    Ensembl:ENSG00000188833 MIM:616748; AllianceGenome:HGNC:24860
    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
    UNQ2492; GLSR2492; E-NTPDase; NTPDase-8
    Summary
    Predicted to enable GDP phosphatase activity; UDP phosphatase activity; and ribonucleoside triphosphate phosphatase activity. Predicted to be involved in nucleoside diphosphate catabolic process. Predicted to act upstream of or within nucleoside diphosphate biosynthetic process and nucleoside monophosphate biosynthetic process. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in colon (RPKM 14.4), duodenum (RPKM 11.4) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENTPD8 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137434364..137441357, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149684986..149691908, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140328816..140335809, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140193329-140194222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140196022-140196940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140201529-140202446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140204820-140205742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140205743-140206664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140209101-140210036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140213503-140214138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140214773-140215407 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140215408-140216041 Neighboring gene NOTCH regulated ankyrin repeat protein Neighboring gene exonuclease 3'-5' domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140245426-140245935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140245936-140246444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140262690-140263291 Neighboring gene MPRA-validated peak7347 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr9:140264677-140264866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20616 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:140306223-140306402 Neighboring gene Sharpr-MPRA regulatory region 4638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140311837-140312663 Neighboring gene uncharacterized LOC124902354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140323354-140324108 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:140330497-140330751 Neighboring gene Sharpr-MPRA regulatory region 12030 Neighboring gene NADPH oxidase activator 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140343721-140344920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140346657-140347540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140347541-140348422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140349307-140350188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140351970-140352667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140355491-140356424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140356425-140357357 Neighboring gene microRNA 7114 Neighboring gene NMDA receptor synaptonuclear signaling and neuronal migration factor Neighboring gene patatin like phospholipase domain containing 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:140377541-140378740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140389307-140389807 Neighboring gene 9q34.3 PNPLA7 recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140438353-140438854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140443963-140444464

    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 cloning and characterization of expressed human ecto-nucleoside triphosphate diphosphohydrolase 8 (E-NTPDase 8) and its soluble extracellular domain. Knowles AF, et al. Biochemistry, 2006 Jun 13. PMID 16752921
    2. Cloning, purification, and identification of the liver canalicular ecto-ATPase as NTPDase8. Fausther M, et al. Am J Physiol Gastrointest Liver Physiol, 2007 Mar. PMID 17095758, Free PMC Article
    3. Inhibition of human and mouse plasma membrane bound NTPDases by P2 receptor antagonists. Munkonda MN, et al. Biochem Pharmacol, 2007 Nov 15. PMID 17727821
    4. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
    5. 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

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NTPDase8 is the canalicular ecto-ATPase/ATPDase and is responsible for the main hepatic NTPDase activity.
      Title: Cloning, purification, and identification of the liver canalicular ecto-ATPase as NTPDase8.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables apyrase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribonucleoside triphosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in nucleoside diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleoside diphosphate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleoside monophosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ectonucleoside triphosphate diphosphohydrolase 8
    Names
    E-NTPDase 8
    liver ecto-ATP-diphosphohydrolase
    NP_001028285.1
    NP_940987.2

    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_001033113.2 → NP_001028285.1  ectonucleoside triphosphate diphosphohydrolase 8 isoform 1

      See identical proteins and their annotated locations for NP_001028285.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.
      Source sequence(s)
      BX322799
      Consensus CDS
      CCDS43913.1
      UniProtKB/Swiss-Prot
      A2BG17, Q5MY95, Q6UVZ0
      Related
      ENSP00000360561.2, ENST00000371506.7
      Conserved Domains (1) summary
      cl17037
      Location:34 → 459
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_198585.3 → NP_940987.2  ectonucleoside triphosphate diphosphohydrolase 8 isoform 2

      See identical proteins and their annotated locations for NP_940987.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AY359088, BX322799
      Consensus CDS
      CCDS7043.1
      UniProtKB/Swiss-Prot
      Q5MY95
      Related
      ENSP00000344089.2, ENST00000344119.6
      Conserved Domains (1) summary
      cl17037
      Location:34 → 422
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137434364..137441357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149684986..149691908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5MY95.2 GenPept UniProtKB/Swiss-Prot:Q5MY95

    Gene LinkOut

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

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