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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)
End	95,877,266 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	40,730,046 bp
RNA expression pattern
	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
	; ; ; ;
	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
	953
	12495
	ENSG00000138185
	ENSMUSG00000048120
	P49961
	P55772
NM_001098175; NM_001164178; NM_001164179; NM_001164181; NM_001164182;
	NM_001164183; NM_001312654; NM_001776; NM_001320916
	NM_009848; NM_001304721
NP_001091645; NP_001157650; NP_001157651; NP_001157653; NP_001157654;
	NP_001157655; NP_001299583; NP_001307845; NP_001767
	NP_001291650; NP_033978
	Wikidata
View/Edit Human	View/Edit Mouse

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]

Function

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]

Clinical significance

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138185 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000048120 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: ENTPD1 Ectonucleoside triphosphate diphosphohydrolase 1".
^ Sévigny J, Levesque FP, Grondin G, Beaudoin AR (Feb 1997). "Purification of the blood vessel ATP diphosphohydrolase, identification and localisation by immunological techniques". Biochimica et Biophysica Acta (BBA) - General Subjects. 1334 (1): 73–88. doi:10.1016/s0304-4165(96)00079-7. PMID 9042368.
^ Kaczmarek E, Koziak K, Sévigny J, Siegel JB, Anrather J, Beaudoin AR, Bach FH, Robson SC (Dec 1996). "Identification and characterization of CD39/vascular ATP diphosphohydrolase". The Journal of Biological Chemistry. 271 (51): 33116–22. doi:10.1074/jbc.271.51.33116. PMID 8955160.
^ Robson SC, Sévigny J, Zimmermann H (Jun 2006). "The E-NTPDase family of ectonucleotidases: Structure function relationships and pathophysiological significance". Purinergic Signalling. 2 (2): 409–30. doi:10.1007/s11302-006-9003-5. PMC 2254478. PMID 18404480.
^ Yegutkin GG (May 2008). "Nucleotide- and nucleoside-converting ectoenzymes: Important modulators of purinergic signalling cascade". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1783 (5): 673–94. doi:10.1016/j.bbamcr.2008.01.024. PMID 18302942.
^ Kukulski F, Lévesque SA, Lavoie EG, Lecka J, Bigonnesse F, Knowles AF, Robson SC, Kirley TL, Sévigny J (Jun 2005). "Comparative hydrolysis of P2 receptor agonists by NTPDases 1, 2, 3 and 8". Purinergic Signalling. 1 (2): 193–204. doi:10.1007/s11302-005-6217-x. PMC 2096530. PMID 18404504.
^ Kukulski F, Lévesque SA, Sévigny J (2011-01-01). "Impact of ectoenzymes on p2 and p1 receptor signaling". Pharmacology of Purine and Pyrimidine Receptors. Advances in Pharmacology. Vol. 61. pp. 263–99. doi:10.1016/B978-0-12-385526-8.00009-6. ISBN 978-0-12-385526-8. PMID 21586362.
^ ^a ^b ^c ^d ^e Antonioli L, Pacher P, Vizi ES, Haskó G (2013). "CD39 and CD73 in immunity and inflammation". Trends in Molecular Medicine. 19 (6): 355–367. doi:10.1016/j.molmed.2013.03.005. PMC 3674206. PMID 23601906.
^ ^a ^b Sepúlveda C, Palomo I, Fuentes E (2016). "Role of adenosine A2b receptor overexpression in tumor progression". Life Sciences. 166: 92–99. doi:10.1016/j.lfs.2016.10.008. PMID 27729268.
^ Novarino G, Fenstermaker AG, Zaki MS, et al. (Jan 2014). "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders". Science. 343 (6170): 506–511. Bibcode:2014Sci...343..506N. doi:10.1126/science.1247363. PMC 4157572. PMID 24482476.
^ Calame DG, Herman I, Maroofian R, et al. (Aug 2022). "Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia". Ann Neurol. 92 (2): 304–321. doi:10.1002/ana.26381. hdl:1887/3564840. PMC 10054521. PMID 35471564.

External links

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

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000138185 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000048120 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "Entrez Gene: ENTPD1 Ectonucleoside triphosphate diphosphohydrolase 1".

[6] Sévigny J, Levesque FP, Grondin G, Beaudoin AR (Feb 1997). "Purification of the blood vessel ATP diphosphohydrolase, identification and localisation by immunological techniques". Biochimica et Biophysica Acta (BBA) - General Subjects. 1334 (1): 73–88. doi:10.1016/s0304-4165(96)00079-7. PMID 9042368.

[7] Kaczmarek E, Koziak K, Sévigny J, Siegel JB, Anrather J, Beaudoin AR, Bach FH, Robson SC (Dec 1996). "Identification and characterization of CD39/vascular ATP diphosphohydrolase". The Journal of Biological Chemistry. 271 (51): 33116–22. doi:10.1074/jbc.271.51.33116. PMID 8955160.

[8] Robson SC, Sévigny J, Zimmermann H (Jun 2006). "The E-NTPDase family of ectonucleotidases: Structure function relationships and pathophysiological significance". Purinergic Signalling. 2 (2): 409–30. doi:10.1007/s11302-006-9003-5. PMC 2254478. PMID 18404480.

[9] Yegutkin GG (May 2008). "Nucleotide- and nucleoside-converting ectoenzymes: Important modulators of purinergic signalling cascade". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1783 (5): 673–94. doi:10.1016/j.bbamcr.2008.01.024. PMID 18302942.

[10] Kukulski F, Lévesque SA, Lavoie EG, Lecka J, Bigonnesse F, Knowles AF, Robson SC, Kirley TL, Sévigny J (Jun 2005). "Comparative hydrolysis of P2 receptor agonists by NTPDases 1, 2, 3 and 8". Purinergic Signalling. 1 (2): 193–204. doi:10.1007/s11302-005-6217-x. PMC 2096530. PMID 18404504.

[11] Kukulski F, Lévesque SA, Sévigny J (2011-01-01). "Impact of ectoenzymes on p2 and p1 receptor signaling". Pharmacology of Purine and Pyrimidine Receptors. Advances in Pharmacology. Vol. 61. pp. 263–99. doi:10.1016/B978-0-12-385526-8.00009-6. ISBN 978-0-12-385526-8. PMID 21586362.

[pmid23601906-12] Antonioli L, Pacher P, Vizi ES, Haskó G (2013). "CD39 and CD73 in immunity and inflammation". Trends in Molecular Medicine. 19 (6): 355–367. doi:10.1016/j.molmed.2013.03.005. PMC 3674206. PMID 23601906.

[pmid27729268-13] Sepúlveda C, Palomo I, Fuentes E (2016). "Role of adenosine A2b receptor overexpression in tumor progression". Life Sciences. 166: 92–99. doi:10.1016/j.lfs.2016.10.008. PMID 27729268.

[14] Novarino G, Fenstermaker AG, Zaki MS, et al. (Jan 2014). "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders". Science. 343 (6170): 506–511. Bibcode:2014Sci...343..506N. doi:10.1126/science.1247363. PMC 4157572. PMID 24482476.

[15] Calame DG, Herman I, Maroofian R, et al. (Aug 2022). "Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia". Ann Neurol. 92 (2): 304–321. doi:10.1002/ana.26381. hdl:1887/3564840. PMC 10054521. PMID 35471564.

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ENTPD1

Function

Clinical significance

See also

References

Further reading

External links

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