Gene Gene information from NCBI Gene database.
Entrez ID 953
Gene name Ectonucleoside triphosphate diphosphohydrolase 1
Gene symbol ENTPD1
Synonyms (NCBI Gene)
ATP-DPHATPDaseCD39NTPDase-1SPG64
Chromosome 10
Chromosome location 10q24.1
Summary 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 f
miRNA miRNA information provided by mirtarbase database.
1060
miRTarBase ID miRNA Experiments Reference
MIRT004222 hsa-miR-346 Microarray 16822819
MIRT043272 hsa-miR-331-3p CLASH 23622248
MIRT640889 hsa-miR-508-5p HITS-CLIP 23824327
MIRT640888 hsa-miR-29a-3p HITS-CLIP 23824327
MIRT640887 hsa-miR-29b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IEA
GO:0004050 Function Apyrase activity IEA
GO:0004382 Function GDP phosphatase activity IBA
GO:0004382 Function GDP phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601752 3363 ENSG00000138185
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49961
Protein name Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5) (ATP diphosphohydrolase) (ATP-DPH) (ATPDase) (Ecto-ATP diphosphohydrolase 1) (Ecto-ATPDase 1) (Ecto-ATPase 1) (Ecto-apyrase) (Lymphoid cell activation antigen) (Nucleoside triphosphate diphosph
Protein function Catalyzes the hydrolysis of both di- and triphosphate nucleotides (NDPs and NTPs) and hydrolyze NTPs to nucleotide monophosphates (NMPs) in two distinct successive phosphate-releasing steps, with NDPs as intermediates and participates in the reg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01150 GDA1_CD39 40 471 GDA1/CD39 (nucleoside phosphatase) family Family
Tissue specificity TISSUE SPECIFICITY: Expressed primarily on activated lymphoid cells (PubMed:7930580). Also expressed in endothelial tissues (PubMed:8955160). Highly expressed in placenta, lung, skeletal muscle, kidney (PubMed:8955160). {ECO:0000269|PubMed:7930580, ECO:00
Sequence
Sequence length 510
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Epstein-Barr virus infection
  Phosphate bond hydrolysis by NTPDase proteins
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
176
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 64 Pathogenic; Likely pathogenic rs1566229309, rs587777200, rs149326648, rs1309641888, rs1379388267, rs2494454909, rs766222251, rs1412393736, rs1590126497 RCV000087329
RCV000087330
RCV003040506
RCV003152399
RCV003152401
RCV003746749
RCV004560360
RCV000988438
RCV000988439
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs192954755 RCV005901420
Colon adenocarcinoma Likely benign; Conflicting classifications of pathogenicity rs538046581, rs373236811 RCV005926404
RCV005909140
ENTPD1-related disorder Likely benign; Benign rs368856010, rs3793744, rs565508317 RCV003933638
RCV003975459
RCV003938372
Familial cancer of breast Conflicting classifications of pathogenicity rs373236811 RCV005909139
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 21750674, 24970562, 26367535
Acute On Chronic Liver Failure Inhibit 22489829
Adenocarcinoma Associate 26113408
Adenocarcinoma of Lung Associate 38087217
Alveolitis Extrinsic Allergic Associate 37833889
Anemia Sickle Cell Associate 24779034, 30185656
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 28916770
Arthritis Juvenile Associate 20498355, 39954509
Arthritis Rheumatoid Associate 10700427, 31036624, 34177888, 38275742
Arthritis Rheumatoid Stimulate 33098857