ENTPD1
Ectonucleoside triphosphate diphosphohydrolase 1
Also known as: ATPDase, CD39, ENTP1_HUMAN, NTPDase-1, SPG64
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P49961
- Gene
- ENTPD1
- Ensembl
- ENSG00000138185
- Chromosome
- 10
- Canonical length
- 510 aa
- Protein class
- CD markers, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
- Subcellular location
- Microtubules
- Quaternary structure
- Homodimer
OverviewNCBI 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 for this gene. [provided by RefSeq, Aug 2015]
Canonical amino-acid sequenceUniProt
510 residues, UniProt reviewed canonical sequence.
>P49961|ENTPD1
1 MEDTKESNVK TFCSKNILAI LGFSSIIAVI ALLAVGLTQN KALPENVKYG IVLDAGSSHT
61 SLYIYKWPAE KENDTGVVHQ VEECRVKGPG ISKFVQKVNE IGIYLTDCME RAREVIPRSQ
121 HQETPVYLGA TAGMRLLRME SEELADRVLD VVERSLSNYP FDFQGARIIT GQEEGAYGWI
181 TINYLLGKFS QKTRWFSIVP YETNNQETFG ALDLGGASTQ VTFVPQNQTI ESPDNALQFR
241 LYGKDYNVYT HSFLCYGKDQ ALWQKLAKDI QVASNEILRD PCFHPGYKKV VNVSDLYKTP
301 CTKRFEMTLP FQQFEIQGIG NYQQCHQSIL ELFNTSYCPY SQCAFNGIFL PPLQGDFGAF
361 SAFYFVMKFL NLTSEKVSQE KVTEMMKKFC AQPWEEIKTS YAGVKEKYLS EYCFSGTYIL
421 SLLLQGYHFT ADSWEHIHFI GKIQGSDAGW TLGYMLNLTN MIPAEQPLST PLSHSTYVFL
481 MVLFSLVLFT VAIIGLLIFH KPSYFWKDMVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ENTPD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- smooth muscle: 46 nTPM
- blood vessel: 41 nTPM
- urinary bladder: 29 nTPM
- endometrium: 26 nTPM
- bone marrow: 26 nTPM
- gallbladder: 26 nTPM
Single-cell type
- neutrophil progenitors: 989 nCPM
- neutrophils: 978 nCPM
- microglia: 634 nCPM
- cdc: 342 nCPM
- macrophages: 198 nCPM
- vascular endothelial cells: 141 nCPM
Immune cell
- eosinophil: 102 nTPM
- neutrophil: 50 nTPM
- classical monocyte: 41 nTPM
- myeloid DC: 32 nTPM
- intermediate monocyte: 27 nTPM
- total PBMC: 16 nTPM
Brain region
- medulla oblongata: 26 nTPM
- pons: 26 nTPM
- thalamus: 26 nTPM
- midbrain: 24 nTPM
- spinal cord: 24 nTPM
- white matter: 24 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ENTPD1.
Disease | AllUniProt
Conditions ENTPD1 is implicated in, by any mechanism.
- Spastic paraplegia 64, autosomal recessive (SPG64) MIM:615683
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 269 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary spastic paraplegia 64
- ENTPD1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.6
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ADP catabolic process
- AMP catabolic process
- blood coagulation
- cell adhesion
- G protein-coupled receptor signaling pathway
- nucleoside diphosphate catabolic process
- platelet aggregation
Molecular functions
- ADP phosphatase activity
- apyrase activity
- ATP binding
- ATP hydrolysis activity
- CDP phosphatase activity
- CTPase activity
- GDP phosphatase activity
- GTPase activity
- IDP phosphatase activity
- nucleoside diphosphate phosphatase activity
- ribonucleoside triphosphate phosphatase activity
- UDP phosphatase activity
- ITPase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ENTPD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ENTPD1 as an antibody target. Whether an autoantibody or antibody against ENTPD1 could matter depends on whether native ENTPD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ENTPD1 is annotated at the cell surface, where native ENTPD1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ENTPD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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