• Gene id: 1917

Gene Summary

• Gene Symbol: EEF1A2   Gene   UCSC   Ensembl
• Aliases: EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL
• Gene name: eukaryotic translation elongation factor 1 alpha 2
• Alternate names: elongation factor 1-alpha 2, eukaryotic elongation factor 1 A-2, statin-S1,
• Gene location: 20q13.33 (63499082: 63488013)     Exons: 22     NC_000020.11
• Gene summary(Entrez): This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the othe
• OMIM: 602959

Protein Summary

• Protein general information: Q05639  
  • Name: Elongation factor 1 alpha 2 (EF 1 alpha 2) (Eukaryotic elongation factor 1 A 2) (eEF1A 2) (Statin S1)
  • Length: 463  
  • Mass: 50470
  • Tissue specificity: Brain, heart, and skeletal muscle.
• Sequence:

  MGKEKTHINIVVIGHVDSGKSTTTGHLIYKCGGIDKRTIEKFEKEAAEMGKGSFKYAWVLDKLKAERERGITIDI
  SLWKFETTKYYITIIDAPGHRDFIKNMITGTSQADCAVLIVAAGVGEFEAGISKNGQTREHALLAYTLGVKQLIV
  GVNKMDSTEPAYSEKRYDEIVKEVSAYIKKIGYNPATVPFVPISGWHGDNMLEPSPNMPWFKGWKVERKEGNASG
  VSLLEALDTILPPTRPTDKPLRLPLQDVYKIGGIGTVPVGRVETGILRPGMVVTFAPVNITTEVKSVEMHHEALS
  EALPGDNVGFNVKNVSVKDIRRGNVCGDSKSDPPQEAAQFTSQVIILNHPGQISAGYSPVIDCHTAHIACKFAEL
  KEKIDRRSGKKLEDNPKSLKSGDAAIVEMVPGKPMCVESFSQYPPLGRFAVRDMRQTVAVGVIKNVEKKSGGAGK
  VTKSAQKAQKAGK

• Structural information:
  • Protein Domains: (5..24-)
    (/note="tr-type-G")
  • Interpro: IPR004161  IPR031157  IPR027417  IPR000795  IPR009000   IPR009001  IPR004539  IPR004160  
  • Prosite: PS00301 PS51722
  • PDB: 3C5J
  • PDBsum: 3C5J
  • DIP: 40060
  • STRING: ENSP00000217182
• Other Databases: GeneCards:  EEF1A2  Malacards:  EEF1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098574	cytoplasmic side of lysosomal membrane	NAS	cellular component
GO:1904714	regulation of chaperone-mediated autophagy	NAS	biological process
GO:0003746	translation elongation factor activity	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0006412	translation	IBA	biological process
GO:0006414	translational elongation	IBA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006414	translational elongation	IEA	biological process
GO:0006414	translational elongation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0008135	translation factor activity, RNA binding	NAS	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:0006414	translational elongation	IEA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0010035	response to inorganic substance	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0005853	eukaryotic translation elongation factor 1 complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0090218	positive regulation of lipid kinase activity	IDA	biological process
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa05140	Leishmaniasis
hsa05134	Legionellosis

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal dominant mental retardation	KEGG:H00773
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal dominant mental retardation	KEGG:H00773
Alzheimer's disease	PMID:8750861
Ovarian cancer	PMID:12053177
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 26361204
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray