NT5M - 5',3'-nucleotidase, mitochondrial Gene

Also Known as mdN; dNT2; dNT-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56953

About NT5M

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,303,373-17,347,663 (from NCBI)

This gene has 7 transcripts (splice variants), 186 orthologues and 1 paralogue. Broad expression in testis (RPKM 2.8), bone marrow (RPKM 2.2) and 23 other tissues.

Summary

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 Products (1)

mRNA Protein Name
NM_020201.4 NP_064586.1 5'(3')-deoxyribonucleotidase, mitochondrial precursor

NT5M Protein Structure

NT5C

NT5C: 5' nucleotidase, deoxy (Pyrimidine), cytosolic type C protein (NT5C) (34 - 226)

  • 0
  • 100
  • 200
  • 228 a.a.
Protein Preferred Names Protein Names

5'(3')-deoxyribonucleotidase, mitochondrial

  • 5' nucleotidase, mitochondrial

Related Diseases

Diseases Alias
Smith-Magenis Syndrome
  • SMS

  • Chromosome 17p11.2 Deletion Syndrome

  • 17p11.2 Microdeletion Syndrome

  • 17p11.2 Monosomy

  • Chromosome 17p Deletion Syndrome

  • Del(17)

  • P11.2

  • 17p- Syndrome

  • Deletion 17p Syndrome

  • Partial Monosomy 17p

Mitochondrial Dna Depletion Syndrome 4b
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

  • Mngie Syndrome

  • Thymidine Phosphorylase Deficiency

  • MTDPS4B

  • Mitochondrial Neurogastrointestinal Encephalopathy Disease

  • Mngie

  • Myoneurogastrointestinal Encephalopathy Syndrome

  • Ogimd

  • Oculogastrointestinal Muscular Dystrophy

  • Polip

  • Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

  • Mngie, Polg-Related

  • Mepop

  • Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

  • Mngie Disease

  • Mitochondrial Dna Depletion Syndrome 4b Mngie Type

  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

  • Mngie Polg-Related

  • Mitochondrial Dna Depletion Syndrome, Type 4b

  • Visceral Myopathy Familial External Ophthalmoplegia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus NT5M VGNC VGNC:99312
Bos taurus NT5M VGNC VGNC:32297
Mus musculus NT5M MGD MGI:1917127
Rattus norvegicus NT5M RGD RGD:1309622
Canis familiaris NT5M VGNC VGNC:44001
Macaca mulatta NT5M VGNC VGNC:99192
Others NT5M NCBI