• Gene id: 54780

Gene Summary

• Gene Symbol: NSMCE4A   Gene   UCSC   Ensembl
• Aliases: C10orf86, NS4EA, NSE4A
• Gene name: NSE4 homolog A, SMC5-SMC6 complex component
• Alternate names: non-structural maintenance of chromosomes element 4 homolog A, NSE4 homolog, SMC5-SMC6 complex component A, non-SMC element 4 homolog A,
• Gene location: 10q26.13 (6474458: 6448612)     Exons: 14     NC_000011.10
• OMIM: 612987

Protein Summary

• Protein general information: Q9NXX6  
  • Name: Non structural maintenance of chromosomes element 4 homolog A (NS4EA) (Non SMC element 4 homolog A)
  • Length: 385  
  • Mass: 44301
• Sequence:

  MSGDSSGRGPEGRGRGRDPHRDRTRSRSRSRSPLSPRSRRGSARERREAPERPSLEDTEPSDSGDEMMDPASLEA
  EADQGLCRQIRHQYRALINSVQQNREDILNAGDKLTEVLEEANTLFNEVSRAREAVLDAHFLVLASDLGKEKAKQ
  LRSDLSSFDMLRYVETLLTHMGVNPLEAEELIRDEDSPDFEFIVYDSWKITGRTAENTFNKTHTFHFLLGSIYGE
  CPVPKPRVDRPRKVPVIQEERAMPAQLRRMEESHQEATEKEVERILGLLQTYFREDPDTPMSFFDFVVDPHSFPR
  TVENIFHVSFIIRDGFARIRLDQDRLPVIEPVSINEENEGFEHNTQVRNQGIIALSYRDWEEIVKTFEISEPVIT
  PSQRQQKPSA

• Structural information:
  • Interpro: IPR027786  IPR014854  IPR029225  
  • STRING: ENSP00000358019
• Other Databases: GeneCards:  NSMCE4A  Malacards:  NSMCE4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030915	Smc5-Smc6 complex	IBA	cellular component
GO:0006281	DNA repair	IBA	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0030915	Smc5-Smc6 complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:2001022	positive regulation of response to DNA damage stimulus	IMP	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0030915	Smc5-Smc6 complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006310	DNA recombination	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:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R