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

Gene ID: 57089, updated on 14-Nov-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
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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 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

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