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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 Dentin Sensitivity. 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 | IEA | -- |
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 |
.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 | 10899995 |
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 | Agonist, Channel blocker | 627 | ||
Cytarabine | Approved, Experimental, Investigational | Pharma | 1294 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Phosphoric acid | Approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
beta-nicotinamide D-ribonucleotide |
|
|
||||
deoxyadenosine |
|
958-09-8 |
|
|||
Deoxyadenosine monophosphate |
|
653-63-4 |
|
|||
deoxyguanosine |
|
961-07-9 |
|
|||
dIMP |
|
3393-18-8 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | NT5M 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Nt5m 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | NT5M 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | NT5M 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Nt5m 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | NT5M 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | NT5M 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | NT5M 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | NT5M 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | nt5m 32 |
|
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000031266 | -- | 17,322,619(+) | G/A | intron_variant | |
rs1000044415 | -- | 17,306,194(+) | C/T | intron_variant | |
rs1000046179 | -- | 17,328,359(+) | C/T | genic_downstream_transcript_variant, intron_variant | |
rs1000069304 | -- | 17,311,561(+) | T/A | intron_variant | |
rs1000101140 | -- | 17,323,755(+) | AGCAGC/AGC | intron_variant |
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 |
---|---|---|
dentin sensitivity |
|
|