• Gene id: 56953

Gene Summary

• Gene Symbol: NT5M   Gene   UCSC   Ensembl
• Aliases: dNT-2, dNT2, mdN
• Gene name: 5',3'-nucleotidase, mitochondrial
• Alternate names: 5'(3')-deoxyribonucleotidase, mitochondrial, 5' nucleotidase, mitochondrial, 5(3)-deoxyribonucleotidase, deoxy-5'-nucleotidase 2, mitochondrial 5' nucleotidase,
• Gene location: 17p11.2 (17303372: 17347662)     Exons: 8     NC_000017.11
• Gene summary(Entrez): 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 chromoso
• OMIM: 609246

Protein Summary

• Protein general information: Q9NPB1  
  • Name: 5'(3') deoxyribonucleotidase, mitochondrial (5',3' nucleotidase, mitochondrial) (EC 3.1.3. ) (Deoxy 5' nucleotidase 2) (dNT 2)
  • Length: 228  
  • Mass: 25862
  • Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at very low levels in kidney and pancreas. {ECO
• Sequence:

  MIRLGGWCARRLCSAAVPAGRRGAAGGLGLAGGRALRVLVDMDGVLADFEGGFLRKFRARFPDQPFIALEDRRGF
  WVSEQYGRLRPGLSEKAISIWESKNFFFELEPLPGAVEAVKEMASLQNTDVFICTSPIKMFKYCPYEKYAWVEKY
  FGPDFLEQIVLTRDKTVVSADLLIDDRPDITGAEPTPSWEHVLFTACHNQHLQLQPPRRRLHSWADDWKAILDSK
  RPC

• Structural information:
  • Interpro: IPR010708  IPR036412  IPR023214  
  • PDB: 1MH9 1Q91 1Q92 1Z4I 1Z4J 1Z4K 1Z4L 1Z4M 1Z4P 1Z4Q 2JAU 2JAW 4L6A 4L6C 4MUM 4MWO 4NFL 4YIK 6G22 6G2L 6G2M
  • PDBsum: 1MH9 1Q91 1Q92 1Z4I 1Z4J 1Z4K 1Z4L 1Z4M 1Z4P 1Z4Q 2JAU 2JAW 4L6A 4L6C 4MUM 4MWO 4NFL 4YIK 6G22 6G2L 6G2M
  • STRING: ENSP00000373674
• Other Databases: GeneCards:  NT5M  Malacards:  NT5M

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008253	5'-nucleotidase activity	IBA	molecular function
GO:0009223	pyrimidine deoxyribonucleotide catabolic process	IBA	biological process
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0009264	deoxyribonucleotide catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0008252	nucleotidase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0009223	pyrimidine deoxyribonucleotide catabolic process	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0046079	dUMP catabolic process	IEA	biological process
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq