ENTPD1

ENTPD1
Identifiers
Aliases	ENTPD1, ATPDase, CD39, NTPDase-1, SPG64, ectonucleoside triphosphate diphosphohydrolase 1
External IDs	OMIM: 601752; MGI: 102805; HomoloGene: 20423; GeneCards: ENTPD1; OMA:ENTPD1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.1 Start 95,711,779 bp[1] End 95,877,266 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 C3|19 34.25 cM Start 40,600,810 bp[2] End 40,730,046 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in saphenous vein monocyte popliteal artery tibial arteries tendon of biceps brachii gallbladder right coronary artery urethra blood appendix Top expressed in ascending aorta aortic valve granulocyte spermatocyte spermatid atrioventricular valve lens stroma of bone marrow conjunctival fornix carotid body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding hydrolase activity ATP binding nucleoside-diphosphatase activity nucleoside-triphosphatase activity Cellular component integral component of membrane integral component of plasma membrane extracellular exosome membrane plasma membrane Biological process cell adhesion blood coagulation nucleobase-containing small molecule catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 953 12495 Ensembl ENSG00000138185 ENSMUSG00000048120 UniProt P49961 P55772 RefSeq (mRNA) NM_001098175 NM_001164178 NM_001164179 NM_001164181 NM_001164182 NM_001164183 NM_001312654 NM_001776 NM_001320916 NM_009848 NM_001304721 RefSeq (protein) NP_001091645 NP_001157650 NP_001157651 NP_001157653 NP_001157654 NP_001157655 NP_001299583 NP_001307845 NP_001767 NP_001291650 NP_033978 Location (UCSC) Chr 10: 95.71 – 95.88 Mb Chr 19: 40.6 – 40.73 Mb PubMed search [3] [4]
Wikidata
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Ectonucleoside triphosphate diphosphohydrolase-1 (gene: ENTPD1; protein: NTPDase1) also known as CD39 (Cluster of Differentiation 39), is a typical cell surface enzyme with a catalytic site on the extracellular face.^[5][6][7]

NTPDase1 is an ectonucleotidase that catalyse the hydrolysis of γ- and β-phosphate residues of triphospho- and diphosphonucleosides to the monophosphonucleoside derivative.^[8][9] NTPDase1 hydrolyzes P2 receptor ligands, namely ATP, ADP, UTP and UDP with similar efficacy.^[10] NTPDase1 can therefore affect P2 receptor activation and functions.^[11]

ATP causes a pro-inflammatory environment, whereas degradation of ATP into adenosine by the CD39/CD73 pathway leads to an anti-inflammatory environment.^[12] CD39 converts ATP (or ADP) to adenosine monophosphate (AMP), which is converted into adenosine by CD73.^[12][13] A substantial portion of the immune suppressive and anti-inflammatory activity of regulatory T cells (Tregs) is due to the adenosine produced by the CD39/CD73 pathway, insofar as Tregs express CD39 and CD73.^{[12] [13]}

Adenosine produced by the CD39/CD73 pathway can protect against ischemia-reperfusion injury.^[12] On the other hand, high expression and activity of CD39 and CD73 on cancer cells can prevent the immune system from inhibiting the progression of cancer.^[12]

Biallelic pathogenic variant in ENTPD1 causes autosomal recessive spastic paraplegia 64 (SPG64).^[14][15] SPG64 is a complex hereditary spastic paraplegia characterized by childhood onset progressive spastic paraparesis, delayed developmental milestones, intellectual disability, dysarthria, and white matter abnormalities.

• Cluster of differentiation

• ENTPD1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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