• Gene id: 30833

Gene Summary

• Gene Symbol: NT5C   Gene   UCSC   Ensembl
• Aliases: DNT, DNT1, HEL74, P5N2, PN-I, PN-II, UMPH2, cdN, dNT-1
• Gene name: 5', 3'-nucleotidase, cytosolic
• Alternate names: 5'(3')-deoxyribonucleotidase, cytosolic type, 5' nucleotidase, deoxy (pyrimidine), cytosolic type C, cytosolic 5',3'-pyrimidine nucleotidase, deoxy-5'-nucleotidase 1, epididymis luminal protein 74, epididymis secretory sperm binding protein, uridine 5'-monophos,
• Gene location: 17q25.1 (75336333: 75362115)     Exons: 23     NC_000005.10
• Gene summary(Entrez): This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in it
• OMIM: 191720

Protein Summary

• Protein general information: Q8TCD5  
  • Name: 5'(3') deoxyribonucleotidase, cytosolic type (EC 3.1.3. ) (Cytosolic 5',3' pyrimidine nucleotidase) (Deoxy 5' nucleotidase 1) (dNT 1)
  • Length: 201  
  • Mass: 23383
  • Tissue specificity: Detected in skeletal muscle, heart and pancreas. {ECO
• Sequence:

  MARSVRVLVDMDGVLADFEAGLLRGFRRRFPEEPHVPLEQRRGFLAREQYRALRPDLADKVASVYEAPGFFLDLE
  PIPGALDAVREMNDLPDTQVFICTSPLLKYHHCVGEKYRWVEQHLGPQFVERIILTRDKTVVLGDLLIDDKDTVR
  GQEETPSWEHILFTCCHNRHLVLPPTRRRLLSWSDNWREILDSKRGAAQRE

• Structural information:
  • Interpro: IPR010708  IPR036412  IPR023214  
  • PDB: 2I7D 4L57 4YIH 6G2N
  • PDBsum: 2I7D 4L57 4YIH 6G2N
  • STRING: ENSP00000245552
• Other Databases: GeneCards:  NT5C  Malacards:  NT5C

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:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0008253	5'-nucleotidase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0009264	deoxyribonucleotide catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0019103	pyrimidine nucleotide binding	IDA	molecular function
GO:0008252	nucleotidase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0009223	pyrimidine deoxyribonucleotide catabolic process	IDA	biological process
GO:0016311	dephosphorylation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881