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Aliases for ENTPD7 Gene

Aliases for ENTPD7 Gene

  • Ectonucleoside Triphosphate Diphosphohydrolase 7 2 3 4 5
  • Lysosomal Apyrase-Like Protein 1 3 4
  • NTPDase 7 3 4
  • LALP1 3 4
  • EC 3.6.1.6 56
  • EC 3.6.1.- 4
  • EC 3.6.1 56

External Ids for ENTPD7 Gene

Previous GeneCards Identifiers for ENTPD7 Gene

  • GC10P101084
  • GC10P101409
  • GC10P095046

Summaries for ENTPD7 Gene

Entrez Gene Summary for ENTPD7 Gene

  • 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]

GeneCards Summary for ENTPD7 Gene

ENTPD7 (Ectonucleoside Triphosphate Diphosphohydrolase 7) is a Protein Coding gene. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ENTPD4.

UniProtKB/Swiss-Prot for ENTPD7 Gene

  • Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP.

Additional gene information for ENTPD7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENTPD7 Gene

Genomics for ENTPD7 Gene

GeneHancer (GH) Regulatory Elements for ENTPD7 Gene

Promoters and enhancers for ENTPD7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J099658 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 610.6 +1.5 1478 6 SP1 ZFX MNT NKRF POLR2A ZNF121 GTF2F1 ZNF24 MAFK SP7 SLC25A28 ENTPD7 ENSG00000229278 PIR56896 CWF19L1 CUTC CHUK EBAG9P1 ABCC2 ENSG00000285932
GH10J099730 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.1 +72.8 72817 4.2 ZNF652 SP1 ZFX ELF3 MNT ZNF148 NKRF POLR2A CEBPG RERE CUTC COX15 ENSG00000285932 EBAG9P1 PHBP9 ENTPD7 DNMBP SEC31B ENSG00000236308 CWF19L1
GH10J099617 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.5 -39.6 -39572 5.6 HDGF ZNF652 SP1 ZFX ELF3 MNT NKRF POLR2A ZNF121 CEBPG SLC25A28 ENSG00000260475 CWF19L1 CHUK PHBP9 EBAG9P1 ENSG00000236308 DNMBP NKX2-3 CUTC
GH10J099630 Enhancer 0.8 Ensembl ENCODE 23 -28.2 -28205 1.8 CTCF ZNF24 MAFK RAD21 REST ZNF316 CEBPB NFE2 FOS MAFG ENTPD7 ENSG00000229278 CUTC EBAG9P1 LOC105378450 GC10M099623 SLC25A28
GH10J099665 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.3 +7.6 7649 2.9 CBFA2T2 ZSCAN21 SP7 SMARCA4 POLR2A DPF2 ZNF600 ZEB2 ZNF639 PKNOX1 EBAG9P1 CUTC ENTPD7 CWF19L1 PIR56896 ENSG00000285932
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENTPD7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENTPD7 gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • Olf-1
  • POU2F1
  • POU2F1a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for ENTPD7 Gene

Genomic Locations for ENTPD7 Gene
chr10:99,659,506-99,711,245
(GRCh38/hg38)
Size:
51,740 bases
Orientation:
Plus strand
chr10:101,419,263-101,471,002
(GRCh37/hg19)
Size:
51,740 bases
Orientation:
Plus strand

Genomic View for ENTPD7 Gene

Genes around ENTPD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENTPD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTPD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENTPD7 Gene

Proteins for ENTPD7 Gene

  • Protein details for ENTPD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQZ7-ENTP7_HUMAN
    Recommended name:
    Ectonucleoside triphosphate diphosphohydrolase 7
    Protein Accession:
    Q9NQZ7
    Secondary Accessions:
    • B2RB83
    • B3KP21
    • D3DR64

    Protein attributes for ENTPD7 Gene

    Size:
    604 amino acids
    Molecular mass:
    68960 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for ENTPD7 Gene

Selected DME Specific Peptides for ENTPD7 Gene

Q9NQZ7:
  • QHTEHVYRVYVTTF
  • QCFKSAW
  • GFGGNFARQRYED
  • SFVYNHYLF
  • NSEFYGFSEF
  • LAEFNLGCD
  • VVDCGSSGSR
  • TEHVYRVYV
  • SLQIAYEVPT
  • TAGMRLL
  • DPCLPVGL
  • HNGNPHDLLDIKQMRDR

Post-translational modifications for ENTPD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ENTPD7 Gene

Domains & Families for ENTPD7 Gene

Gene Families for ENTPD7 Gene

Protein Domains for ENTPD7 Gene

Suggested Antigen Peptide Sequences for ENTPD7 Gene

GenScript: Design optimal peptide antigens:
  • Lysosomal apyrase-like protein 1 (ENTP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQZ7

UniProtKB/Swiss-Prot:

ENTP7_HUMAN :
  • Belongs to the GDA1/CD39 NTPase family.
Family:
  • Belongs to the GDA1/CD39 NTPase family.
genes like me logo Genes that share domains with ENTPD7: view

Function for ENTPD7 Gene

Molecular function for ENTPD7 Gene

UniProtKB/Swiss-Prot Function:
Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP.

Enzyme Numbers (IUBMB) for ENTPD7 Gene

Phenotypes From GWAS Catalog for ENTPD7 Gene

Gene Ontology (GO) - Molecular Function for ENTPD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ENTPD7: view
genes like me logo Genes that share phenotypes with ENTPD7: view

Animal Models for ENTPD7 Gene

MGI Knock Outs for ENTPD7:

Animal Model Products

  • Taconic Biosciences Mouse Models for ENTPD7

CRISPR Products

miRNA for ENTPD7 Gene

miRTarBase miRNAs that target ENTPD7

Clone Products

  • Applied Biological Materials (abm): Clones for ENTPD7 - Now 50% OFF >
  • * ENTPD7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ENTPD7 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENTPD7 Gene

Localization for ENTPD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENTPD7 Gene

Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Localizes to intracellular vesicular compartments. {ECO:0000269 PubMed:11278936}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENTPD7 gene
Compartment Confidence
plasma membrane 2
mitochondrion 0
endoplasmic reticulum 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ENTPD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0030666 endocytic vesicle membrane TAS --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ENTPD7: view

Pathways & Interactions for ENTPD7 Gene

PathCards logo

SuperPathways for ENTPD7 Gene

genes like me logo Genes that share pathways with ENTPD7: view

Pathways by source for ENTPD7 Gene

Gene Ontology (GO) - Biological Process for ENTPD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034656 nucleobase-containing small molecule catabolic process TAS --
genes like me logo Genes that share ontologies with ENTPD7: view

No data available for SIGNOR curated interactions for ENTPD7 Gene

Drugs & Compounds for ENTPD7 Gene

(2) Drugs for ENTPD7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with ENTPD7: view

Transcripts for ENTPD7 Gene

mRNA/cDNA for ENTPD7 Gene

Unigene Clusters for ENTPD7 Gene

Ectonucleoside triphosphate diphosphohydrolase 7:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ENTPD7 - Now 50% OFF >
  • * ENTPD7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ENTPD7 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for ENTPD7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:
SP3:

Relevant External Links for ENTPD7 Gene

GeneLoc Exon Structure for
ENTPD7
ECgene alternative splicing isoforms for
ENTPD7

Expression for ENTPD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENTPD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENTPD7 Gene



NURSA nuclear receptor signaling pathways regulating expression of ENTPD7 Gene:

ENTPD7

SOURCE GeneReport for Unigene cluster for ENTPD7 Gene:

Hs.744948

Evidence on tissue expression from TISSUES for ENTPD7 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ENTPD7: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENTPD7 Gene

Orthologs for ENTPD7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENTPD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENTPD7 35 34
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENTPD7 35
  • 94 (a)
OneToOne
LOC100300490 34
  • 92.57 (n)
dog
(Canis familiaris)
Mammalia ENTPD7 35 34
  • 93.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Entpd7 34
  • 87.31 (n)
mouse
(Mus musculus)
Mammalia Entpd7 17 35 34
  • 87.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENTPD7 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENTPD7 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENTPD7 35 34
  • 69.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENTPD7 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia entpd7 34
  • 69.36 (n)
worm
(Caenorhabditis elegans)
Secernentea ntp-1 35 34
  • 48.03 (n)
ManyToMany
mig-23 35
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YND1 37 35 34
  • 46.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13662g 34
  • 45.15 (n)
rice
(Oryza sativa)
Liliopsida Os03g0378000 34
  • 45.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ynd1 34
  • 48.93 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08027 34
  • 46.59 (n)
Species where no ortholog for ENTPD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ENTPD7 Gene

ENSEMBL:
Gene Tree for ENTPD7 (if available)
TreeFam:
Gene Tree for ENTPD7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENTPD7: view image

Paralogs for ENTPD7 Gene

Paralogs for ENTPD7 Gene

(1) SIMAP similar genes for ENTPD7 Gene using alignment to 2 proteins:

  • ENTP7_HUMAN
  • S4R3B9_HUMAN
genes like me logo Genes that share paralogs with ENTPD7: view

Variants for ENTPD7 Gene

Sequence variations from dbSNP and Humsavar for ENTPD7 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000984 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 99,710,328(+) C/A 3_prime_UTR_variant
rs10490941 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 99,708,941(+) A/G 3_prime_UTR_variant
rs1056844 likely-benign, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 99,710,146(+) T/G 3_prime_UTR_variant
rs10883407 likely-benign, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 99,711,170(+) A/G 3_prime_UTR_variant
rs11190252 uncertain-significance, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 99,710,572(+) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ENTPD7 Gene

Variant ID Type Subtype PubMed ID
esv24363 CNV loss 19812545
esv2659605 CNV deletion 23128226
esv2675100 CNV deletion 23128226
esv3624350 CNV loss 21293372
esv3624351 CNV loss 21293372
nsv7516 CNV deletion 18451855

Variation tolerance for ENTPD7 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.81; 79.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENTPD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENTPD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTPD7 Gene

Disorders for ENTPD7 Gene

Additional Disease Information for ENTPD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ENTPD7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENTPD7 Gene

Publications for ENTPD7 Gene

  1. Molecular cloning and characterization of a novel mammalian endo-apyrase (LALP1). (PMID: 11278936) Shi JD … She JX (The Journal of biological chemistry 2001) 2 3 4 23 58
  2. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 20534741) Corneveaux JJ … Huentelman MJ (Human molecular genetics 2010) 3 45 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ENTPD7 Gene

Sources for ENTPD7 Gene

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