• Gene id: 54475

Gene Summary

• Gene Symbol: NLE1   Gene   UCSC   Ensembl
• Aliases: NLE
• Gene name: notchless homolog 1
• Alternate names: notchless protein homolog 1, Notchless gene homolog,
• Gene location: 17q12 (35142303: 35128729)     Exons: 13     NC_000017.11
• OMIM: 611320

Protein Summary

• Protein general information: Q9NVX2  
  • Name: Notchless protein homolog 1
  • Length: 485  
  • Mass: 53320
• Sequence:

  MAAAVPDEAVARDVQRLLVQFQDEGGQLLGSPFDVPVDITPDRLQLVCNALLAQEDPLPLAFFVHDAEIVSSLGK
  TLESQAVETEKVLDIIYQPQAIFRVRAVTRCTSSLEGHSEAVISVAFSPTGKYLASGSGDTTVRFWDLSTETPHF
  TCKGHRHWVLSISWSPDGRKLASGCKNGQILLWDPSTGKQVGRTLAGHSKWITGLSWEPLHANPECRYVASSSKD
  GSVRIWDTTAGRCERILTGHTQSVTCLRWGGDGLLYSASQDRTIKVWRAHDGVLCRTLQGHGHWVNTMALSTDYA
  LRTGAFEPAEASVNPQDLQGSLQELKERALSRYNLVRGQGPERLVSGSDDFTLFLWSPAEDKKPLTRMTGHQALI
  NQVLFSPDSRIVASASFDKSIKLWDGRTGKYLASLRGHVAAVYQIAWSADSRLLVSGSSDSTLKVWDVKAQKLAM
  DLPGHADEVYAVDWSPDGQRVASGGKDKCLRIWRR

• Structural information:
  • Interpro: IPR020472  IPR001632  IPR012972  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000413572
• Other Databases: GeneCards:  NLE1  Malacards:  NLE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000027	ribosomal large subunit assembly	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0042273	ribosomal large subunit biogenesis	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0061484	hematopoietic stem cell homeostasis	IEA	biological process
GO:2001268	negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001826	inner cell mass cell differentiation	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq