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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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:0004382 Function Guanosine-diphosphatase activity IBA 21873635
GO:0005515 Function Protein binding IPI 16478441
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane TAS
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Borderline intellectual disability, Moderate intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Spastic paraplegia Spastic Paraplegia, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, Autosomal recessive spastic paraplegia type 64 rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520
View all (368 more)
24482476, 29691679
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 64, complex hereditary spastic paraplegia GenCC
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Dementia Dementia GWAS
Associations from Text Mining
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