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    ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 [ Homo sapiens (human) ]

    Gene ID: 956, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ENTPD3provided by HGNC
    Official Full Name
    ectonucleoside triphosphate diphosphohydrolase 3provided by HGNC
    Primary source
    HGNC:HGNC:3365
    See related
    Ensembl:ENSG00000168032 MIM:603161; AllianceGenome:HGNC:3365
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HB6; CD39L3; NTPDase-3
    Summary
    This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]
    Expression
    Broad expression in urinary bladder (RPKM 4.1), thyroid (RPKM 2.0) and 20 other tissues See more
    Orthologs
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    Genomic context

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    See ENTPD3 in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (40387184..40428744)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (40402253..40443812)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (40428675..40470235)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14230 Neighboring gene Sharpr-MPRA regulatory region 12551 Neighboring gene eukaryotic translation initiation factor 1B Neighboring gene phosphoglycerate mutase 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14231 Neighboring gene ENTPD3, EIF1B and MYRIP antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:40459610-40459810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19717 Neighboring gene Sharpr-MPRA regulatory region 7904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14232 Neighboring gene Sharpr-MPRA regulatory region 106 Neighboring gene ribosomal protein L14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19718 Neighboring gene zinc finger protein 619

    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 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. ENTPD3 Marks Mature Stem Cell-Derived β-Cells Formed by Self-Aggregation In Vitro. Docherty FM, et al. Diabetes, 2021 Nov. PMID 34380694, Free PMC Article
    2. Cloning, sequencing, and expression of a human brain ecto-apyrase related to both the ecto-ATPases and CD39 ecto-apyrases1. Smith TM, et al. Biochim Biophys Acta, 1998 Jul 28. PMID 9675246
    3. Mutagenesis of two conserved tryptophan residues of the E-type ATPases: inactivation and conversion of an ecto-apyrase to an ecto-NTPase. Smith TM, et al. Biochemistry, 1999 May 4. PMID 10231536
    4. Site-directed mutagenesis of human nucleoside triphosphate diphosphohydrolase 3: the importance of residues in the apyrase conserved regions. Yang F, et al. Biochemistry, 2001 Apr 3. PMID 11300774
    5. Characterization of disulfide bonds in human nucleoside triphosphate diphosphohydrolase 3 (NTPDase3): implications for NTPDase structural modeling. Ivanenkov VV, et al. Biochemistry, 2005 Jun 28. PMID 15966724

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing NTPDase3 activity rehabilitates the osteogenic commitment of post-menopausal stem cell bone progenitors.
      Title: Silencing NTPDase3 activity rehabilitates the osteogenic commitment of post-menopausal stem cell bone progenitors.
    2. ENTPD3 Marks Mature Stem Cell-Derived beta-Cells Formed by Self-Aggregation In Vitro.
      Title: ENTPD3 Marks Mature Stem Cell-Derived β-Cells Formed by Self-Aggregation In Vitro.
    3. NTPDase2 and -3 are ecto-enzymes expressed in the enteric nervous system. Both enzymes confer protection against gut inflammation in experimental colitis and exhibit alterations in Crohn's disease. These observations suggest that purinergic signalling modulated by E-NTPDases governs neuro-immune interactions that are relevant in Crohn's disease.
      Title: Expression of Ecto-nucleoside Triphosphate Diphosphohydrolases-2 and -3 in the Enteric Nervous System Affects Inflammation in Experimental Colitis and Crohn's Disease.
    4. Despite the increased level of NTPDase1 and NTPDase3 mRNA expression in chondrogenically induced MSCs, their activity toward ATP remains quite low.
      Title: Chondrogenic Differentiation of Human Mesenchymal Stem Cells Results in Substantial Changes of Ecto-Nucleotides Metabolism.
    5. NTPDase3 is the major ectonucleotidase in pancreatic beta-cells in multiple species and modulates insulin secretion by controlling activation of purinergic receptors.
      Title: Ectonucleotidase NTPDase3 is abundant in pancreatic β-cells and regulates glucose-induced insulin secretion.
    6. Cystic fibrosis epithelia exhibit >50% lower NTPDase1 activity, protein, and mRNA levels than normal epithelia, whereas these parameters are threefold higher for NTPDase3.
      Title: Cystic fibrosis remodels the regulation of purinergic signaling by NTPDase1 (CD39) and NTPDase3.
    7. Generation of a helical model for NTPDase3 suggests the importance of putative hydrogen bond interactions of conserved polar residues which are critical for enzyme expression, activity, and its susceptibility to membrane perturbations.
      Title: Conserved polar residues stabilize transmembrane domains and promote oligomerization in human nucleoside triphosphate diphosphohydrolase 3.
    8. efficiently inhibit the NTPDase3expressed in insulin secreting human pancreatic islet cells in situ
      Title: Characterization of a monoclonal antibody as the first specific inhibitor of human NTP diphosphohydrolase-3 : partial characterization of the inhibitory epitope and potential applications.
    9. NTPDase3 sequence revealed a high degree of structural fold similarity with a bacterial exopolyphosphatase
      Title: Characterization of disulfide bonds in human nucleoside triphosphate diphosphohydrolase 3 (NTPDase3): implications for NTPDase structural modeling.
    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

    • FLJ93839

    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 nucleoside diphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    enables ribonucleoside triphosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nucleoside diphosphate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleoside triphosphate catabolic 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 3
    Names
    CD39 antigen-like 3
    NTPDase 3
    ecto-ATP diphosphohydrolase 3
    ecto-ATPDase 3
    ecto-ATPase 3
    ecto-apyrase 3
    NP_001239.2
    NP_001278889.1
    NP_001278890.1
    XP_011532568.1
    XP_054204452.1

    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.

    Genomic

    1. NG_047041.1 RefSeqGene

      Range
      5029..46589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001248.4 → NP_001239.2  ectonucleoside triphosphate diphosphohydrolase 3 isoform 1

      See identical proteins and their annotated locations for NP_001239.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC104186, AF039917, DA209533
      Consensus CDS
      CCDS2691.1
      UniProtKB/Swiss-Prot
      B2R8D0, G5E9N0, O60495, O75355, Q8N6K2
      Related
      ENSP00000301825.3, ENST00000301825.8
      Conserved Domains (1) summary
      cl17037
      Location:56 → 478
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_001291960.2 → NP_001278889.1  ectonucleoside triphosphate diphosphohydrolase 3 isoform 1

      See identical proteins and their annotated locations for NP_001278889.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC104186, AK313322
      Consensus CDS
      CCDS2691.1
      UniProtKB/Swiss-Prot
      B2R8D0, G5E9N0, O60495, O75355, Q8N6K2
      Related
      ENSP00000401565.1, ENST00000456402.5
      Conserved Domains (1) summary
      cl17037
      Location:56 → 478
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    3. NM_001291961.2 → NP_001278890.1  ectonucleoside triphosphate diphosphohydrolase 3 isoform 2

      See identical proteins and their annotated locations for NP_001278890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and includes a different terminal 3' exon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC104186, BC029869
      Consensus CDS
      CCDS74919.1
      UniProtKB/Swiss-Prot
      O75355
      Related
      ENSP00000404671.1, ENST00000445129.1
      Conserved Domains (1) summary
      cl17037
      Location:56 → 448
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      40387184..40428744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534266.4 → XP_011532568.1  ectonucleoside triphosphate diphosphohydrolase 3 isoform X1

      Conserved Domains (1) summary
      cl17037
      Location:56 → 281
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      40402253..40443812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348477.1 → XP_054204452.1  ectonucleoside triphosphate diphosphohydrolase 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75355.2 GenPept UniProtKB/Swiss-Prot:O75355

    Gene LinkOut

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

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