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    ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 [ Homo sapiens (human) ]

    Gene ID: 9583, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ENTPD4provided by HGNC
    Official Full Name
    ectonucleoside triphosphate diphosphohydrolase 4provided by HGNC
    Primary source
    HGNC:HGNC:14573
    See related
    Ensembl:ENSG00000197217 MIM:607577; AllianceGenome:HGNC:14573
    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
    LAP70; LALP70; LYSAL1; UDPase; NTPDase-4
    Summary
    This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in lymph node (RPKM 16.0), appendix (RPKM 14.8) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    8p21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (23429162..23457647, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23704046..23732531, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23286675..23315160, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159094-23159594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159595-23160095 Neighboring gene R3H domain and coiled-coil containing 1 Neighboring gene lysyl oxidase like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23177410-23177975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23182003-23182503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23195830-23196330 Neighboring gene LOXL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23209911-23210493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23236632-23237224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23237225-23237815 Neighboring gene Sharpr-MPRA regulatory region 9444 Neighboring gene Sharpr-MPRA regulatory region 13358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23273382-23273902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23279735-23280235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23308148-23308855 Neighboring gene Sharpr-MPRA regulatory region 8456 Neighboring gene NANOG hESC enhancer GRCh37_chr8:23312327-23312828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19024 Neighboring gene ENTPD4 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23326741-23327240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23339113-23340081 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 pseudogene Neighboring gene uncharacterized LOC105379327

    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. Crystal structure of the nucleotide-metabolizing enzyme NTPDase4. Gorelik A, et al. Protein Sci, 2020 Oct. PMID 32767432, Free PMC Article
    2. NTPDASE4 gene products cooperate with the adenovirus E4orf4 protein through PP2A-dependent and -independent mechanisms and contribute to induction of cell death. Avital-Shacham M, et al. J Virol, 2014 Jun. PMID 24672025, Free PMC Article
    3. The VSFASSQQ motif confers calcium sensitivity to the intracellular apyrase LALP70. Biederbick A, et al. BMC Biochem, 2004 Jun 16. PMID 15200686, Free PMC Article
    4. First apyrase splice variants have different enzymatic properties. Biederbick A, et al. J Biol Chem, 2000 Jun 23. PMID 10858452
    5. A human intracellular apyrase-like protein, LALP70, localizes to lysosomal/autophagic vacuoles. Biederbick A, et al. J Cell Sci, 1999 Aug. PMID 10393803

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Crystal structure of the nucleotide-metabolizing enzyme NTPDase4.
      Title: Crystal structure of the nucleotide-metabolizing enzyme NTPDase4.
    2. NTPDASE4 gene products cooperate with the adenovirus E4orf4 protein through PP2A-dependent and -independent mechanisms and contribute to induction of cell death.
      Title: NTPDASE4 gene products cooperate with the adenovirus E4orf4 protein through PP2A-dependent and -independent mechanisms and contribute to induction of cell death.
    3. The present study fails to provide evidence for the contribution of ENTPD4 genes to the etiology of schizophrenia in the Japanese population.
      Title: An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
    6. The VSFASSQQ motif confers calcium sensitivity to LALP70 during UDP cleavage.
      Title: The VSFASSQQ motif confers calcium sensitivity to the intracellular apyrase LALP70.
    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

    Potential readthrough

    Included gene: LOXL2

    Homology

    Clone Names

    • KIAA0392

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CDP phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables CTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GDP phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside diphosphate phosphatase activity IDA
    Inferred from Direct Assay
    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 CTP metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in CTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GDP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UDP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleobase-containing small molecule catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ectonucleoside triphosphate diphosphohydrolase 4
    Names
    Golgi UDPase
    golgi luminal UDPase
    guanosine-diphosphatase like protein
    lysosomal apyrase-like 1
    lysosomal apyrase-like protein of 70 kDa
    uridine-diphosphatase
    NP_001122402.1
    NP_004892.1

    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_030021.1 RefSeqGene

      Range
      5085..33570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128930.3 → NP_001122402.1  ectonucleoside triphosphate diphosphohydrolase 4 isoform b

      See identical proteins and their annotated locations for NP_001122402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b, also known as LALP70v) is shorter than isoform a.
      Source sequence(s)
      AC104561, AF016032, DB091432, DC341200
      Consensus CDS
      CCDS47827.1
      UniProtKB/TrEMBL
      B4DU21
      Related
      ENSP00000408573.2, ENST00000417069.6
      Conserved Domains (1) summary
      cl17037
      Location:82 → 532
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_004901.5 → NP_004892.1  ectonucleoside triphosphate diphosphohydrolase 4 isoform a

      See identical proteins and their annotated locations for NP_004892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC104561, AJ131358, CN313713, CN313716, DC341200
      Consensus CDS
      CCDS6041.1
      UniProtKB/Swiss-Prot
      D3DSS3, O15092, Q9Y227
      UniProtKB/TrEMBL
      B4DU21
      Related
      ENSP00000351520.4, ENST00000358689.9
      Conserved Domains (1) summary
      cl17037
      Location:82 → 540
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      23429162..23457647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      23704046..23732531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y227.1 GenPept UniProtKB/Swiss-Prot:Q9Y227

    Gene LinkOut

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

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