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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hereditary spastic paraplegia 64 Pathogenic; Likely pathogenic rs1566229309, rs587777200, rs149326648, rs1309641888, rs1379388267, rs2494454909, rs766222251, rs1412393736, rs1590126497 RCV000087329
RCV000087330
RCV003040506
RCV003152399
RCV003152401
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX HEREDITARY SPASTIC PARAPLEGIA ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 26113408
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 24970562
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Extrinsic allergic alveolitis Pubtator 37833889 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 24779034, 30185656 Associate
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 27210814
★☆☆☆☆
Found in Text Mining only
Aortic valve calcification Aortic valve calcification BEFREE 31402927
★☆☆☆☆
Found in Text Mining only
Aortic valve disorder Aortic Valve Disease BEFREE 31402927
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 31402927
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26121751, 26381750, 28487312, 31048101
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 25640206
★☆☆☆☆
Found in Text Mining only