• Gene id: 197370

Gene Summary

• Gene Symbol: NSMCE1   Gene   UCSC   Ensembl
• Aliases: NSE1
• Gene name: NSE1 homolog, SMC5-SMC6 complex component
• Alternate names: non-structural maintenance of chromosomes element 1 homolog, non-SMC element 1 homolog,
• Gene location: 16p12.1 (27268771: 27224993)     Exons: 11     NC_000016.10
• OMIM: 617263

Protein Summary

• Protein general information: Q8WV22  
  • Name: Non structural maintenance of chromosomes element 1 homolog (Non SMC element 1 homolog) (EC 2.3.2.27)
  • Length: 266  
  • Mass: 30855
• Sequence:

  MQGSTRRMGVMTDVHRRFLQLLMTHGVLEEWDVKRLQTHCYKVHDRNATVDKLEDFINNINSVLESLYIEIKRGV
  TEDDGRPIYALVNLATTSISKMATDFAENELDLFRKALELIIDSETGFASSTNILNLVDQLKGKKMRKKEAEQVL
  QKFVQNKWLIEKEGEFTLHGRAILEMEQYIRETYPDAVKICNICHSLLIQGQSCETCGIRMHLPCVAKYFQSNAE
  PRCPHCNDYWPHEIPKVFDPEKERESGVLKSNKKSLRSRQH

• Structural information:
  • Interpro: IPR011513  IPR002219  IPR036388  IPR001841  IPR014857   IPR013083  
  • Prosite: PS50089
  • CDD: cd16493
  • PDB: 2CT0 5HVQ 5WY5
  • PDBsum: 2CT0 5HVQ 5WY5
  • STRING: ENSP00000355077
• Other Databases: GeneCards:  NSMCE1  Malacards:  NSMCE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006301	postreplication repair	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0030915	Smc5-Smc6 complex	IBA	cellular component
GO:0030915	Smc5-Smc6 complex	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0046983	protein dimerization activity	IDA	molecular function
GO:2001022	positive regulation of response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0030915	Smc5-Smc6 complex	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray