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Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
NT5C1A (5'-Nucleotidase, Cytosolic IA) is a Protein Coding gene. Diseases associated with NT5C1A include Epiphyseal Chondrodysplasia, Miura Type and Inclusion Body Myositis. Among its related pathways are ATP/ITP metabolism and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include nucleotide binding and 5'-nucleotidase activity. An important paralog of this gene is NT5C1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008253 | 5'-nucleotidase activity | IBA,NAS | 11133996 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
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 | ATP/ITP metabolism |
ATP/ITP metabolism
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006195 | purine nucleotide catabolic process | TAS | -- |
GO:0009116 | nucleoside metabolic process | NAS | 11133996 |
GO:0009117 | nucleotide metabolic process | IEA | -- |
GO:0009128 | purine nucleoside monophosphate catabolic process | IEA | -- |
GO:0016311 | dephosphorylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cladribine | Approved, Investigational | Pharma | Apoptosis inducer in CLL cells | 105 | ||
Fluorouracil | Approved | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor | 2338 | ||
Gemcitabine | Approved | Pharma | Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs | 2451 | ||
Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 619 | ||
Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 |
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 |
|
|||
deoxyguanosine |
|
961-07-9 |
|
|||
Nicotinamide ribotide |
|
1094-61-7 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NT5C1A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NT5C1A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NT5C1A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NT5C1A 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nt5c1a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nt5c1a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NT5C1A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NT5C1A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NT5C1A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495335 30 |
|
||
MGC75654 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8799 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | LOC799449 30 |
|
||
NT5C1A (2 of 2) 31 |
|
OneToMany | |||
nt5c1a 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5436 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2530832 | CNV | insertion | 19546169 |
nsv1116447 | OTHER | inversion | 24896259 |
nsv577 | CNV | insertion | 18451855 |
nsv7177 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epiphyseal chondrodysplasia, miura type |
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inclusion body myositis |
|
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crigler-najjar syndrome, type i |
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myositis |
|
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foster-kennedy syndrome |
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