• Gene id: 57002

Gene Summary

• Gene Symbol: YAE1   Gene   UCSC   Ensembl
• Aliases: C7orf36, CIAB2, GK003, YAE1D1
• Gene name: YAE1 maturation factor of ABCE1
• Alternate names: protein YAE1 homolog, YAE1, ABCE1 maturation factor, Yae1 domain containing 1, yae1 domain-containing protein 1,
• Gene location: 7p14.1 (39566403: 39612088)     Exons: 4     NC_000007.14

Protein Summary

• Protein general information: Q9NRH1  
  • Name: Protein YAE1 homolog (Yae1 domain containing protein 1)
  • Length: 226  
  • Mass: 25299
• Sequence:

  MSWVQAASLIQGPGDKGDVFDEEADESLLAQREWQSNMQRRVKEGYRDGIDAGKAVTLQQGFNQGYKKGAEVILN
  YGRLRGTLSALLSWCHLHNNNSTLINKINNLLDAVGQCEEYVLKHLKSITPPSHVVDLLDSIEDMDLCHVVPAEK
  KIDEAKDERLCENNAEFNKNCSKSHSGIDCSYVECCRTQEHAHSENPSPTWILEQTASLVKQLGLSVDVLQHLKQ
  L

• Structural information:
  • Interpro: IPR019191  IPR038881  
  • STRING: ENSP00000223273
• Other Databases: GeneCards:  YAE1  Malacards:  YAE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0106035	protein maturation by [4Fe-4S] cluster transfer	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881