• Gene id: 1774

Gene Summary

• Gene Symbol: DNASE1L1   Gene   UCSC   Ensembl
• Aliases: DNAS1L1, DNASEX, DNL1L, G4.8, XIB
• Gene name: deoxyribonuclease 1 like 1
• Alternate names: deoxyribonuclease-1-like 1, DNase I, lysosomal-like, DNase I-like 1, DNase I-like, muscle-specific, deoxyribonuclease I-like 1,
• Gene location: Xq28 (154412100: 154401235)     Exons: 10     NC_000023.11
• Gene summary(Entrez): This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same
• OMIM: 613182

Protein Summary

• Protein general information: P49184  
  • Name: Deoxyribonuclease 1 like 1 (EC 3.1.21. ) (DNase X) (Deoxyribonuclease I like 1) (DNase I like 1) (Muscle specific DNase I like) (XIB)
  • Length: 302  
  • Mass: 33893
  • Tissue specificity: Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain. {ECO
• Sequence:

  MHYPTALLFLILANGAQAFRICAFNAQRLTLAKVAREQVMDTLVRILARCDIMVLQEVVDSSGSAIPLLLRELNR
  FDGSGPYSTLSSPQLGRSTYMETYVYFYRSHKTQVLSSYVYNDEDDVFAREPFVAQFSLPSNVLPSLVLVPLHTT
  PKAVEKELNALYDVFLEVSQHWQSKDVILLGDFNADCASLTKKRLDKLELRTEPGFHWVIADGEDTTVRASTHCT
  YDRVVLHGERCRSLLHTAAAFDFPTSFQLTEEEALNISDHYPVEVELKLSQAHSVQPLSLTVLLLLSLLSPQLCP
  AA

• Structural information:
  • Interpro: IPR018057  IPR016202  IPR033125  IPR036691  IPR005135  
  • Prosite: PS00919 PS00918
  • STRING: ENSP00000358824
• Other Databases: GeneCards:  DNASE1L1  Malacards:  DNASE1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000737	DNA catabolic process, endonucleolytic	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0004530	deoxyribonuclease I activity	IBA	molecular function
GO:0004536	deoxyribonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006308	DNA catabolic process	IBA	biological process
GO:0004536	deoxyribonuclease activity	IEA	molecular function
GO:0006308	DNA catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0004536	deoxyribonuclease activity	TAS	molecular function
GO:0006259	DNA metabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray