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This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
NT5C (5', 3'-Nucleotidase, Cytosolic) is a Protein Coding gene. Diseases associated with NT5C include Autoimmune Lymphoproliferative Syndrome. Among its related pathways are Metabolism of nucleotides and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include phosphatase activity and nucleotidase activity. An important paralog of this gene is NT5M.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0008252 | nucleotidase activity | IDA | 10681516 |
GO:0008253 | 5'-nucleotidase activity | IEA,IBA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016791 | phosphatase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 10681516 |
GO:0005737 | cytoplasm | IEA,IDA | 10681516 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides | ||
2 | Metabolism |
.40
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3 | NAD metabolism |
NAD metabolism
.53
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4 | Gemcitabine Pathway, Pharmacokinetics/Pharmacodynamics | ||
5 | Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006195 | purine nucleotide catabolic process | TAS | -- |
GO:0009117 | nucleotide metabolic process | IEA | -- |
GO:0009223 | pyrimidine deoxyribonucleotide catabolic process | IDA | 10681516 |
GO:0009264 | deoxyribonucleotide catabolic process | IEA | -- |
GO:0016311 | dephosphorylation | IEA,IDA | 10681516 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 | |||
Lamivudine | Approved, Investigational | Pharma | Enzyme, substrate | Nucleoside analog reverse transcriptase inhibitor | 703 | |
Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 619 | ||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Phosphoric acid | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
beta-nicotinamide D-ribonucleotide |
|
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||||
deoxyadenosine |
|
958-09-8 |
|
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Deoxyadenosine monophosphate |
|
653-63-4 |
|
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deoxyguanosine |
|
961-07-9 |
|
|||
Nicotinamide ribotide |
|
1094-61-7 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | · | 5f | · | 5g |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||
SP7: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NT5C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NT5C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NT5C 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nt5c 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nt5c 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NT5C 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NT5C 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11541956 | - | p.Pro68Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune lymphoproliferative syndrome |
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|