• Gene id: 56160

Gene Summary

• Gene Symbol: NSMCE3   Gene   UCSC   Ensembl
• Aliases: HCA4, LICS, MAGEG1, MAGEL3, NDNL2, NSE3
• Gene name: NSE3 homolog, SMC5-SMC6 complex component
• Alternate names: non-structural maintenance of chromosomes element 3 homolog, MAGE-G1 antigen, hepatocellular carcinoma-associated protein 4, hepatocellular carcinoma-associated protein HCA4, melanoma antigen, family G, 1, melanoma-associated antigen G1, necdin-like 2, SMC5-SMC,
• Gene location: 15q13.1 (29269821: 29264988)     Exons: 1     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]
• OMIM: 608243

Protein Summary

• Protein general information: Q96MG7  
  • Name: Non structural maintenance of chromosomes element 3 homolog (Non SMC element 3 homolog) (Hepatocellular carcinoma associated protein 4) (MAGE G1 antigen) (Melanoma associated antigen G1) (Necdin like protein 2)
  • Length: 304  
  • Mass: 34308
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MLQKPRNRGRSGGQAERDRDWSHSGNPGASRAGEDARVLRDGFAEEAPSTSRGPGGSQGSQGPSPQGARRAQAAP
  AVGPRSQKQLELKVSELVQFLLIKDQKKIPIKRADILKHVIGDYKDIFPDLFKRAAERLQYVFGYKLVELEPKSN
  TYILINTLEPVEEDAEMRGDQGTPTTGLLMIVLGLIFMKGNTIKETEAWDFLRRLGVYPTKKHLIFGDPKKLITE
  DFVRQRYLEYRRIPHTDPVDYEFQWGPRTNLETSKMKVLKFVAKVHNQDPKDWPAQYCEALADEENRARPQPSGP
  APSS

• Structural information:
  • Protein Domains: (85..28-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR041898  IPR041899  IPR002190  
  • Prosite: PS50838
  • PDB: 5HVQ 5WY5
  • PDBsum: 5HVQ 5WY5
  • STRING: ENSP00000330694
• Other Databases: GeneCards:  NSMCE3  Malacards:  NSMCE3

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0030915	Smc5-Smc6 complex	IDA	cellular component
GO:0030915	Smc5-Smc6 complex	IDA	cellular component
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0071478	cellular response to radiation	IMP	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0072711	cellular response to hydroxyurea	IMP	biological process
GO:0034644	cellular response to UV	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0040008	regulation of growth	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881