• Gene id: 9086

Gene Summary

• Gene Symbol: EIF1AY   Gene   UCSC   Ensembl
• Aliases: eIF-4C
• Gene name: eukaryotic translation initiation factor 1A Y-linked
• Alternate names: eukaryotic translation initiation factor 1A, Y-chromosomal, eIF-1A Y isoform, eukaryotic translation initiation factor 1A, Y chromosome, eukaryotic translation initiation factor 4C,
• Gene location: Yq11.223 (20575710: 20593153)     Exons: 7     NC_000024.10
• Gene summary(Entrez): This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits.
• OMIM: 400014

SNPs

rs13447352

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.20587967A>C
NC_000024.9   g.22749853A>C|SEQ=[A/C]|GENE=EIF1AY

Protein Summary

• Protein general information: O14602  
  • Name: Eukaryotic translation initiation factor 1A, Y chromosomal (eIF 1A Y isoform) (Eukaryotic translation initiation factor 4C) (eIF 4C)
  • Length: 144  
  • Mass: 16442
  • Tissue specificity: Ubiquitous.
• Sequence:

  MPKNKGKGGKNRRRGKNENESEKRELVFKEDGQEYAQVIKMLGNGRLEALCFDGVKRLCHIRGKLRKKVWINTSD
  IILVGLRDYQDNKADVILKYNADEARSLKAYGELPEHAKINETDTFGPGDDDEIQFDDIGDDDEDIDDI

• Structural information:
  • Protein Domains: (22..9-)
    (/note="S1-like"-)
  • Interpro: IPR012340  IPR006196  IPR001253  IPR018104  
  • Prosite: PS01262 PS50832
  • CDD: cd05793
• Other Databases: GeneCards:  EIF1AY  Malacards:  EIF1AY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003743	translation initiation factor activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006413	translational initiation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0003743	translation initiation factor activity	IEA	molecular function
GO:0006413	translational initiation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray