Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
953
Gene name Gene Name - the full gene name approved by the HGNC.
Ectonucleoside triphosphate diphosphohydrolase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ENTPD1
Synonyms (NCBI Gene) Gene synonyms aliases
ATP-DPH, ATPDase, CD39, NTPDase-1, SPG64
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.1
Summary Summary of gene provided in NCBI Entrez 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 f
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601752 3363 ENSG00000138185
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 64 rs1566229309, rs587777200, rs1412393736, rs1590126497 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease 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