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

Gene ID: 57089, updated on 1-Jun-2020

Summary

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
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

Genomic context

See ENTPD7 in Genome Data Viewer
Location:
10q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (99659509..99711245)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101419263..101471002)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NK2 homeobox 3 Neighboring gene uncharacterized LOC105378450 Neighboring gene solute carrier family 25 member 28 Neighboring gene EBAG9 pseudogene 1 Neighboring gene cytochrome c oxidase assembly homolog COX15 Neighboring gene cutC copper transporter Neighboring gene ABCC2 intron CAGE-defined mid-level expression enhancer Neighboring gene ATP binding cassette subfamily C member 2

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CUTC

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
nucleobase-containing small molecule catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001349962.2NP_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:79529
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  2. NM_001349963.1NP_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
    Conserved Domains (1) summary
    cl17037
    Location:77527
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  3. NM_020354.5NP_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
    Q9NQZ7
    Related
    ENSP00000359520.4, ENST00000370489.5
    Conserved Domains (1) summary
    cl17037
    Location:77527
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    99659509..99711245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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