Gene Gene information from NCBI Gene database.
Entrez ID 4907
Gene name 5'-nucleotidase ecto
Gene symbol NT5E
Synonyms (NCBI Gene)
CALJACD73E5NTNTNT5NTEeNeNT
Chromosome 6
Chromosome location 6q14.3
Summary The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene ca
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs373328681 C>A,T Pathogenic Missense variant, coding sequence variant, stop gained
rs387906620 G>A Pathogenic Missense variant, coding sequence variant
rs774200574 ->A Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
301
miRTarBase ID miRNA Experiments Reference
MIRT005130 hsa-miR-30a-5p pSILAC 18668040
MIRT001529 hsa-miR-155-5p pSILAC 18668040
MIRT001529 hsa-miR-155-5p Proteomics;Other 18668040
MIRT022996 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023955 hsa-miR-1-3p Proteomics 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HIF1A Activation 12370277
HNF1A Unknown 10428853
LEF1 Unknown 10428853
SP1 Unknown 10428853
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002953 Function 5'-deoxynucleotidase activity IDA 22997138, 34403084
GO:0002953 Function 5'-deoxynucleotidase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
129190 8021 ENSG00000135318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P21589
Protein name 5'-nucleotidase (5'-NT) (EC 3.1.3.35) (EC 3.1.3.5) (EC 3.1.3.89) (EC 3.1.3.91) (EC 3.1.3.99) (5'-deoxynucleotidase) (Ecto-5'-nucleotidase) (IMP-specific 5'-nucleotidase) (Thymidylate 5'-phosphatase) (CD antigen CD73)
Protein function Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, with AMP being the preferred substrate (PubMed:21933152, PubMed:22997138, PubMed:23142347, PubMed:24887587, PubMed:34403084).
PDB 4H1S , 4H1Y , 4H2B , 4H2F , 4H2G , 4H2I , 6HXW , 6S7F , 6S7H , 6TVE , 6TVG , 6TVX , 6TW0 , 6TWA , 6TWF , 6VC9 , 6VCA , 6XUE , 6XUG , 6XUQ , 6YE1 , 6YE2 , 6Z9B , 6Z9D , 7BBJ , 7JV8 , 7JV9 , 7P9N , 7P9R , 7P9T , 7PA4 , 7PB5 , 7PBA , 7PBB , 7PBY , 7PCP , 7PD9 , 7QGA , 7QGL , 7QGM , 7QGO , 8ZNZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 29 246 Calcineurin-like phosphoesterase Domain
PF02872 5_nucleotid_C 338 513 Domain
Sequence
Sequence length 574
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Nicotinate and nicotinamide metabolism
Metabolic pathways
Nucleotide metabolism
  Nicotinate metabolism
Pyrimidine catabolism
Purine catabolism
Purinergic signaling in leishmaniasis infection
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary arterial and articular multiple calcification syndrome Pathogenic; Likely pathogenic rs373328681, rs387906620, rs774200574 RCV000022533
RCV000022534
RCV000022535
NT5E-related disorder Likely pathogenic rs1769796270, rs774200574 RCV004552466
RCV004549385
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24310606, 25677906, 26113408, 28060732
Adenocarcinoma Stimulate 29514610
Adenocarcinoma in Situ Stimulate 33416944
Adenocarcinoma of Lung Associate 33416944, 34996932, 35813221, 38149244
Agammaglobulinemia Associate 2843575
Alopecia Associate 35181715
alpha Thalassemia Stimulate 24074530
Alveolitis Extrinsic Allergic Inhibit 27792269
Anemia Sickle Cell Associate 26316481
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 28916770