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This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
NT5M (5',3'-Nucleotidase, Mitochondrial) is a Protein Coding gene. Diseases associated with NT5M include Methemoglobinemia and Thumb Deformity. Among its related pathways are Metabolism of nucleotides and NAD metabolism. Gene Ontology (GO) annotations related to this gene include nucleotide binding and nucleotidase activity. An important paralog of this gene is NT5C.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0008252 | nucleotidase activity | TAS | 10899995 |
GO:0008253 | 5'-nucleotidase activity | IBA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | TAS | 10899995 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides | ||
2 | Metabolism |
.40
|
|
3 | NAD metabolism |
NAD metabolism
.53
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006260 | DNA replication | TAS | 10899995 |
GO:0009117 | nucleotide metabolic process | IEA | -- |
GO:0009223 | pyrimidine deoxyribonucleotide catabolic process | TAS,IBA | 21873635 |
GO:0009264 | deoxyribonucleotide catabolic process | IEA | -- |
GO:0016311 | dephosphorylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adenosine | Approved, Investigational | Pharma | 659 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
Cyclic 3',5'-thymidine monophosphate | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
deoxyadenosine |
|
958-09-8 |
|
|||
Deoxyadenosine monophosphate |
|
653-63-4 |
|
|||
deoxyguanosine |
|
961-07-9 |
|
|||
dIMP |
|
3393-18-8 |
|
|||
Nicotinamide ribotide |
|
75414-16-3 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NT5M 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nt5m 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NT5M 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NT5M 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nt5m 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NT5M 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NT5M 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NT5M 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NT5M 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nt5m 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1198553 | CNV | deletion | 17803354 |
esv26411 | CNV | loss | 19812545 |
esv2659771 | CNV | deletion | 23128226 |
esv2673352 | CNV | deletion | 23128226 |
esv2813 | CNV | loss | 18987735 |
esv3161567 | CNV | deletion | 24192839 |
esv33859 | CNV | loss | 17666407 |
esv3554215 | CNV | deletion | 23714750 |
esv3640127 | CNV | loss | 21293372 |
esv3640128 | CNV | loss | 21293372 |
esv5295 | CNV | loss | 18987735 |
esv6568 | CNV | loss | 19470904 |
nsv1061186 | CNV | gain | 25217958 |
nsv112007 | CNV | deletion | 16902084 |
nsv1125206 | CNV | deletion | 24896259 |
nsv1146229 | CNV | deletion | 26484159 |
nsv155 | OTHER | inversion | 15895083 |
nsv469777 | CNV | gain | 16826518 |
nsv499114 | OTHER | inversion | 21111241 |
nsv833380 | CNV | loss | 17160897 |
nsv833382 | CNV | loss | 17160897 |
nsv9500 | CNV | loss | 18304495 |
nsv954571 | CNV | deletion | 24416366 |
nsv955407 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
methemoglobinemia |
|
|
thumb deformity |
|
|
smith-magenis syndrome |
|
|
potocki-lupski syndrome |
|
|
sleep disorder |
|
|