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    ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 [ Homo sapiens (human) ]

    Gene ID: 57089, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ENTPD7provided by HGNC
    Official Full Name
    ectonucleoside triphosphate diphosphohydrolase 7provided by HGNC
    Primary source
    HGNC:HGNC:19745
    See related
    Ensembl:ENSG00000198018 MIM:616753; AllianceGenome:HGNC:19745
    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
    LALP1
    Summary
    This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in small intestine (RPKM 8.2), duodenum (RPKM 8.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENTPD7 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99659509..99711241)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100542513..100594231)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101419266..101470998)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:101380588-101381170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:101381171-101381752 Neighboring gene SLC25A28 divergent transcript Neighboring gene solute carrier family 25 member 28 Neighboring gene uncharacterized LOC105378450 Neighboring gene Sharpr-MPRA regulatory region 10719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2697 Neighboring gene EBAG9 pseudogene 1 Neighboring gene cytochrome c oxidase assembly homolog COX15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3872 Neighboring gene cutC copper transporter Neighboring gene MPRA-validated peak1067 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2698 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:101544125-101545324 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:101545341-101545842 Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene ATP binding cassette subfamily C member 2

    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. The structure of the nucleoside triphosphate diphosphohydrolases (NTPDases) as revealed by mutagenic and computational modeling analyses. Kirley TL, et al. Purinergic Signal, 2006 Jun. PMID 17710224, Free PMC Article
    2. The E-NTPDase family of ectonucleotidases: Structure function relationships and pathophysiological significance. Robson SC, et al. Purinergic Signal, 2006 Jun. PMID 18404480, Free PMC Article
    3. Cellular function and molecular structure of ecto-nucleotidases. Zimmermann H, et al. Purinergic Signal, 2012 Sep. PMID 22555564, Free PMC Article
    4. Hepatic purinergic signaling gene network expression and its relationship with inflammation and oxidative stress biomarkers in blood from peripartal dairy cattle. Seo J, et al. J Dairy Sci, 2014 Feb. PMID 24359819
    5. Purinergic signaling in liver disease. Vaughn BP, et al. Dig Dis, 2014. PMID 25034284, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
    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

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog

    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

    Potential readthrough

    Included gene: CUTC

    Homology

    Clone Names

    • FLJ30978, FLJ31830, FLJ41522, FLJ95364, MGC141913, DKFZp667O124

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in CTP metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in T-helper 17 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UDP catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UTP 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 
    involved_in regulation of immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    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 7
    Names
    NTPDase 7
    lysosomal apyrase-like protein 1
    NP_001336891.1
    NP_001336892.1
    NP_065087.1

    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_053079.1 RefSeqGene

      Range
      5133..56865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001349962.2 → NP_001336891.1  ectonucleoside triphosphate diphosphohydrolase 7 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK309735, AL133353
      Conserved Domains (1) summary
      cl17037
      Location:79 → 529
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_001349963.2 → NP_001336892.1  ectonucleoside triphosphate diphosphohydrolase 7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate exon in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL133353, AW629210
      Consensus CDS
      CCDS7480.1
      UniProtKB/Swiss-Prot
      B2RB83, B3KP21, D3DR64, Q9NQZ7
      Conserved Domains (1) summary
      cl17037
      Location:77 → 527
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    3. NM_020354.5 → NP_065087.1  ectonucleoside triphosphate diphosphohydrolase 7 isoform 2

      See identical proteins and their annotated locations for NP_065087.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks an alternate exon in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AK055540, AL133353, AW629210, BC119008
      Consensus CDS
      CCDS7480.1
      UniProtKB/Swiss-Prot
      B2RB83, B3KP21, D3DR64, Q9NQZ7
      Related
      ENSP00000359520.4, ENST00000370489.5
      Conserved Domains (1) summary
      cl17037
      Location:77 → 527
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      99659509..99711241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      100542513..100594231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQZ7.1 GenPept UniProtKB/Swiss-Prot:Q9NQZ7

    Gene LinkOut

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

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