• Gene id: 10591

Gene Summary

• Gene Symbol: DNPH1   Gene   UCSC   Ensembl
• Aliases: C6orf108, RCL, dJ330M21.3
• Gene name: 2'-deoxynucleoside 5'-phosphate N-hydrolase 1
• Alternate names: 2'-deoxynucleoside 5'-phosphate N-hydrolase 1, c-Myc-responsive protein RCL, c-Myc-responsive protein Rcl, deoxyribonucleoside 5'-monophosphate N-glycosidase, putative c-Myc-responsive,
• Gene location: 6p21.1 (43229480: 43225628)     Exons: 4     NC_000006.12
• Gene summary(Entrez): This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but stu
• OMIM: 618762

Protein Summary

• Protein general information: O43598  
  • Name: 2' deoxynucleoside 5' phosphate N hydrolase 1 (EC 3.2.2. ) (c Myc responsive protein RCL)
  • Length: 174  
  • Mass: 19108
  • Tissue specificity: Expressed at low levels in brain, colon, lung, peripheral blood leukocytes, placenta, small intestine, and thymus. Expressed at high levels in heart, kidney, liver, skeletal muscle and spleen. Overexpressed in a significant proportion
• Sequence:

  MAAAMVPGRSESWERGEPGRPALYFCGSIRGGREDRTLYERIVSRLRRFGTVLTEHVAAAELGARGEEAAGGDRL
  IHEQDLEWLQQADVVVAEVTQPSLGVGYELGRAVAFNKRILCLFRPQSGRVLSAMIRGAADGSRFQVWDYEEGEV
  EALLDRYFEADPPGQVAASPDPTT

• Structural information:
  • Interpro: IPR028607  IPR007710  
  • PDB: 4P5E
  • PDBsum: 4P5E
  • STRING: ENSP00000230431
• Other Databases: GeneCards:  DNPH1  Malacards:  DNPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070694	deoxyribonucleoside 5'-monophosphate N-glycosidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0009159	deoxyribonucleoside monophosphate catabolic process	IBA	biological process
GO:0009159	deoxyribonucleoside monophosphate catabolic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0070694	deoxyribonucleoside 5'-monophosphate N-glycosidase activity	IDA	molecular function
GO:0009159	deoxyribonucleoside monophosphate catabolic process	ISS	biological process
GO:0070694	deoxyribonucleoside 5'-monophosphate N-glycosidase activity	ISS	molecular function
GO:0030307	positive regulation of cell growth	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0009159	deoxyribonucleoside monophosphate catabolic process	IEA	biological process
GO:0070694	deoxyribonucleoside 5'-monophosphate N-glycosidase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0070694	deoxyribonucleoside 5'-monophosphate N-glycosidase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0070694	deoxyribonucleoside 5'-monophosphate N-glycosidase activity	IEA	molecular function
GO:0009159	deoxyribonucleoside monophosphate catabolic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0016799	hydrolase activity, hydrolyzing N-glycosyl compounds	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
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)