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Aliases for ENTPD1 Gene

Aliases for ENTPD1 Gene

  • Ectonucleoside Triphosphate Diphosphohydrolase 1 5 2 3
  • Lymphoid Cell Activation Antigen 3 4
  • Ecto-ATP Diphosphohydrolase 1 3 4
  • Ecto-ATPDase 1 3 4
  • Ecto-ATPase 1 3 4
  • CD39 Antigen 3 4
  • Ecto-Apyrase 3 4
  • EC 3.6.1.5 4 63
  • NTPDase 1 3 4
  • CD39 3 4
  • NTPDase-1 3
  • EC 3.6.1 63
  • ATPDase 3
  • SPG64 3

External Ids for ENTPD1 Gene

Previous HGNC Symbols for ENTPD1 Gene

  • CD39

Previous GeneCards Identifiers for ENTPD1 Gene

  • GC10P096476
  • GC10P096816
  • GC10P097714
  • GC10P097180
  • GC10P097136
  • GC10P097505
  • GC10P091143
  • GC10P097471

Summaries for ENTPD1 Gene

Entrez Gene Summary for ENTPD1 Gene

  • The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for ENTPD1 Gene

ENTPD1 (Ectonucleoside Triphosphate Diphosphohydrolase 1) is a Protein Coding gene. Diseases associated with ENTPD1 include Spastic Paraplegia 64, Autosomal Recessive and Spastic Paraplegia 64. Among its related pathways are Pyrimidine metabolism (KEGG) and Epstein-Barr virus infection. GO annotations related to this gene include hydrolase activity and nucleoside-diphosphatase activity. An important paralog of this gene is ENTPD3.

UniProtKB/Swiss-Prot for ENTPD1 Gene

  • In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well.

Gene Wiki entry for ENTPD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENTPD1 Gene

Genomics for ENTPD1 Gene

Regulatory Elements for ENTPD1 Gene

Enhancers for ENTPD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ENTPD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ENTPD1 Gene

Chromosome:
10
Start:
95,710,906 bp from pter
End:
95,877,266 bp from pter
Size:
166,361 bases
Orientation:
Plus strand

Genomic View for ENTPD1 Gene

Genes around ENTPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENTPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENTPD1 Gene

Proteins for ENTPD1 Gene

  • Protein details for ENTPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49961-ENTP1_HUMAN
    Recommended name:
    Ectonucleoside triphosphate diphosphohydrolase 1
    Protein Accession:
    P49961
    Secondary Accessions:
    • A9Z1X8
    • B4DWB9
    • B4E1X1
    • B7Z599
    • G3XAF6
    • Q5T561
    • Q5T562
    • Q86VV3
    • Q9UQQ9
    • Q9Y3Q9

    Protein attributes for ENTPD1 Gene

    Size:
    510 amino acids
    Molecular mass:
    57965 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; disulfide-linked.
    • Homodimer; disulfide-linked.

    Alternative splice isoforms for ENTPD1 Gene

neXtProt entry for ENTPD1 Gene

Proteomics data for ENTPD1 Gene at MOPED

Selected DME Specific Peptides for ENTPD1 Gene

Post-translational modifications for ENTPD1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for ENTPD1

Domains & Families for ENTPD1 Gene

Gene Families for ENTPD1 Gene

Protein Domains for ENTPD1 Gene

Graphical View of Domain Structure for InterPro Entry

P49961

UniProtKB/Swiss-Prot:

ENTP1_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 ENTPD1: view

Function for ENTPD1 Gene

Molecular function for ENTPD1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.0-7.5 with ATP as substrate, and 7.5-8.0 with ADP as substrate.;
UniProtKB/Swiss-Prot CatalyticActivity:
A nucleoside 5-triphosphate + 2 H(2)O = a nucleoside 5-phosphate + 2 phosphate.
UniProtKB/Swiss-Prot Function:
In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well.

Enzyme Numbers (IUBMB) for ENTPD1 Gene

Gene Ontology (GO) - Molecular Function for ENTPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16478441
genes like me logo Genes that share ontologies with ENTPD1: view
genes like me logo Genes that share phenotypes with ENTPD1: view

Human Phenotype Ontology for ENTPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ENTPD1 Gene

MGI Knock Outs for ENTPD1:

miRNA for ENTPD1 Gene

miRTarBase miRNAs that target ENTPD1

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ENTPD1 Gene

Localization for ENTPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENTPD1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENTPD1 Gene COMPARTMENTS Subcellular localization image for ENTPD1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 3
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENTPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 7930580
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ENTPD1: view

Pathways & Interactions for ENTPD1 Gene

genes like me logo Genes that share pathways with ENTPD1: view

Pathways by source for ENTPD1 Gene

1 BioSystems pathway for ENTPD1 Gene
1 GeneGo (Thomson Reuters) pathway for ENTPD1 Gene

Gene Ontology (GO) - Biological Process for ENTPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ENTPD1: view

No data available for SIGNOR curated interactions for ENTPD1 Gene

Drugs & Compounds for ENTPD1 Gene

(21) Drugs for ENTPD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
5-Thymidylic acid Experimental Pharma 0
CDP Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0

(14) Additional Compounds for ENTPD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
dTDP
  • Deoxy-TDP
  • Deoxythymidine 5'-diphosphate
  • dTDP
  • TDP
  • Thymidine 5'-diphosphate
491-97-4
IDP
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
132-06-9
genes like me logo Genes that share compounds with ENTPD1: view

Transcripts for ENTPD1 Gene

Unigene Clusters for ENTPD1 Gene

Ectonucleoside triphosphate diphosphohydrolase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENTPD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - - -
SP2: -
SP3:

Relevant External Links for ENTPD1 Gene

GeneLoc Exon Structure for
ENTPD1
ECgene alternative splicing isoforms for
ENTPD1

Expression for ENTPD1 Gene

mRNA expression in normal human tissues for ENTPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENTPD1 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for ENTPD1 Gene

This gene is overexpressed in Uterus (16.8) and Urinary Bladder (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ENTPD1 Gene



SOURCE GeneReport for Unigene cluster for ENTPD1 Gene Hs.576612

mRNA Expression by UniProt/SwissProt for ENTPD1 Gene

P49961-ENTP1_HUMAN
Tissue specificity: Expressed primarily on activated lymphoid cells. Also expressed in endothelial tissues. Isoform 1 and isoform 3 are present in both placenta and umbilical vein, whereas isoform 2 is present in placenta only.
genes like me logo Genes that share expression patterns with ENTPD1: view

Protein tissue co-expression partners for ENTPD1 Gene

Primer Products

Orthologs for ENTPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENTPD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ENTPD1 35
  • 78.88 (n)
  • 71.49 (a)
ENTPD1 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENTPD1 35
  • 84.33 (n)
  • 77.18 (a)
ENTPD1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Entpd1 35
  • 80.42 (n)
  • 76.39 (a)
Entpd1 16
Entpd1 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENTPD1 35
  • 99.62 (n)
  • 99.62 (a)
ENTPD1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Entpd1 35
  • 79.63 (n)
  • 73.57 (a)
oppossum
(Monodelphis domestica)
Mammalia ENTPD1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENTPD1 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENTPD1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENTPD1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia entpd1 35
  • 61.81 (n)
  • 57.09 (a)
zebrafish
(Danio rerio)
Actinopterygii entpd1 35
  • 59.47 (n)
  • 55.35 (a)
entpd1 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mig-23 36
  • 20 (a)
ManyToMany
ntp-1 36
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YND1 36
  • 18 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G14240 35
  • 44.47 (n)
  • 33.96 (a)
rice
(Oryza sativa)
Liliopsida Os08g0436100 35
  • 43.61 (n)
  • 35.19 (a)
Species with no ortholog for ENTPD1:
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENTPD1 Gene

ENSEMBL:
Gene Tree for ENTPD1 (if available)
TreeFam:
Gene Tree for ENTPD1 (if available)

Paralogs for ENTPD1 Gene

Paralogs for ENTPD1 Gene

(3) SIMAP similar genes for ENTPD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ENTPD1: view

Variants for ENTPD1 Gene

Sequence variations from dbSNP and Humsavar for ENTPD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_022099 -
VAR_071082 Spastic paraplegia 64, autosomal recessive (SPG64)
rs1891535 -- 95,745,521(-) CTGCA(A/G)AGATA intron-variant
rs1933165 -- 95,730,630(-) ATTAT(A/T)TTCTT intron-variant
rs1933166 -- 95,727,605(-) GGAGT(C/T)AAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENTPD1 Gene

Variant ID Type Subtype PubMed ID
nsv526180 CNV Gain 19592680
nsv7499 CNV Insertion 18451855
dgv804n71 CNV Loss 21882294
esv268276 CNV Insertion 20981092
nsv7500 CNV Insertion 18451855
nsv507572 CNV Insertion 20534489
esv2665760 CNV Deletion 23128226
nsv825528 CNV Loss 20364138

Variation tolerance for ENTPD1 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENTPD1 Gene

Human Gene Mutation Database (HGMD)
ENTPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTPD1 Gene

Disorders for ENTPD1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ENTPD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 64, autosomal recessive
  • autosomal recessive spastic paraplegia type 64
spastic paraplegia 64
  • spastic paraplegia 64, autosomal recessive
radiation proctitis
proctitis
  • proctitis nos
ischemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ENTP1_HUMAN
  • Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ENTPD1

Genetic Association Database (GAD)
ENTPD1
Human Genome Epidemiology (HuGE) Navigator
ENTPD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENTPD1
genes like me logo Genes that share disorders with ENTPD1: view

No data available for Genatlas for ENTPD1 Gene

Publications for ENTPD1 Gene

  1. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 4 67
  2. The activity and expression of NTPDase is altered in lymphocytes of multiple sclerosis patients. (PMID: 19914228) Spanevello R.M. … Schetinger M.R. (Clin. Chim. Acta 2010) 3 23
  3. Cystic fibrosis remodels the regulation of purinergic signaling by NTPDase1 (CD39) and NTPDase3. (PMID: 20190036) Fausther M. … Picher M. (Am. J. Physiol. Lung Cell Mol. Physiol. 2010) 3 23
  4. Central role of Sp1-regulated CD39 in hypoxia/ischemia protection. (PMID: 18812468) Eltzschig H.K. … Colgan S.P. (Blood 2009) 3 23
  5. Isolation of functional human regulatory T cells (Treg) from the peripheral blood based on the CD39 expression. (PMID: 19450601) Mandapathil M. … Whiteside T.L. (J. Immunol. Methods 2009) 3 23

Products for ENTPD1 Gene

Sources for ENTPD1 Gene

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