1. Gene
  2. ENTPD1 - ectonucleoside triphosphate diphosphohydrolase 1 Gene

ENTPD1 - ectonucleoside triphosphate diphosphohydrolase 1 Gene

Homo sapiens

Also known as CD39; SPG64; ATPDase; NTPDase-1

Gene ID: 953 | Gene type: protein coding

About ENTPD1

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:95,694,186-95,877,266 (from NCBI)

This gene has 13 transcripts (splice variants), 199 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in urinary bladder (RPKM 6.1), appendix (RPKM 5.8) and 24 other tissues.

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 for this gene. [provided by RefSeq, Aug 2015]

ENTPD1 Products(9)

mRNA Protein Name
NM_001098175.2 NP_001091645.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 2
NM_001164178.1 NP_001157650.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 3
NM_001164179.2 NP_001157651.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 4
NM_001164181.1 NP_001157653.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 5
NM_001164182.2 NP_001157654.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 6
NM_001164183.2 NP_001157655.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 6
NM_001312654.1 NP_001299583.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 5
NM_001320916.1 NP_001307845.1 ectonucleoside triphosphate diphosphohydrolase 1 isoform 7
NM_001776.6 NP_001767.3 ectonucleoside triphosphate diphosphohydrolase 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables nucleoside diphosphate phosphatase activity IDA
IDA: Inferred from direct assay
8529670 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16478441 GOA
enables ribonucleoside triphosphate phosphatase activity IDA
IDA: Inferred from direct assay
8529670 GOA
Biological Process GO Annotation Evidence Reference Source
involved in platelet aggregation IMP
IMP: Inferred from mutant phenotype
8955160 GOA
Cellular Component GO Annotation Evidence Reference Source
located in caveola IDA
IDA: Inferred from direct assay
10636909 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
10636909 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENTPD1 Protein Structure

GDA1_CD39

GDA1_CD39: GDA1/CD39 (nucleoside phosphatase) family (41 - 469)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 510 a.a.
Protein Preferred Names Protein Names

ectonucleoside triphosphate diphosphohydrolase 1

CD39 antigen

Recombinant ENTPD1 Proteins

Cat. No. Product Name Accession Purity
HY-P75417 CD39 Protein, Human (sf9, His) P49961 (T38-V478) ≥95%

Related Diseases

Diseases Alias
Spastic Paraplegia 64, Autosomal Recessive

SPG64

Hereditary Spastic Paraplegia 64

Autosomal Recessive Spastic Paraplegia Type 64

Autosomal Recessive Spastic Paraplegia 64

Paraplegia, Spastic, Type 64, Autosomal Recessive

Thrombosis

Thrombosis Of Blood Vessel

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome

CALJA

Arterial Calcification Due To Cd73 Deficiency

Arterial Calcification Due To Deficiency Of Cd73

Acdc

Arterial Calcification And Distal Joint Calcification

Arterial Calcification Due To Deficiency Of Cd73:Acdc

Calcification Of Joints And Arteries

Calja

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked

IPEX

X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Xlaad

Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

Ipex Syndrome

Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

Iddm-Secretory Diarrhea Syndrome

Dmsd

Autoimmunity-Immunodeficiency Syndrome, X-Linked

Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

Xpid

Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

Autoimmune Enteropathy Type 1

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

Autoimmunity-Immunodeficiency Syndrome X-Linked

Iddm Secretory Diarrhea Syndrome

Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

X-Linked Autoimmunity-Immunodeficiency Syndrome

Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like

Scd-Eds

EDSSPD3

Ehlers-Danlos Syndrome Spondylodysplastic Type 3

Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type

Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome

Slc39a13-Related Speds

Slc39a13-Related Spondylodysplastic Eds

Spondylocheirodysplastic Ehlers-Danlos Syndrome

Speds-Slc39a13

Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia

Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Dermatitis, Atopic, 7

ATOD7

Dermatitis, Atopic, Susceptibility To, 7

Atopic Dermatitis 7

Dermatitis, Atopic 7

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ENTPD1 VGNC VGNC:59064
Bos taurus ENTPD1 VGNC VGNC:97269
Rattus norvegicus ENTPD1 RGD RGD:69265
Mus musculus ENTPD1 MGD MGI:102805
Felis catus ENTPD1 VGNC VGNC:97418
Macaca mulatta ENTPD1 NCBI
Others ENTPD1 NCBI