• Gene id: 1967

Gene Summary

• Gene Symbol: EIF2B1   Gene   UCSC   Ensembl
• Aliases: EIF2B, EIF2BA
• Gene name: eukaryotic translation initiation factor 2B subunit alpha
• Alternate names: translation initiation factor eIF-2B subunit alpha, eIF-2B GDP-GTP exchange factor subunit alpha, eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa,
• Gene location: 12q24.31 (36156052: 36136568)     Exons: 6     NC_000001.11
• Gene summary(Entrez): This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other E
• OMIM: 606686

Protein Summary

• Protein general information: Q14232  
  • Name: Translation initiation factor eIF 2B subunit alpha (eIF 2B GDP GTP exchange factor subunit alpha)
  • Length: 305  
  • Mass: 33712
• Sequence:

  MDDKELIEYFKSQMKEDPDMASAVAAIRTLLEFLKRDKGETIQGLRANLTSAIETLCGVDSSVAVSSGGELFLRF
  ISLASLEYSDYSKCKKIMIERGELFLRRISLSRNKIADLCHTFIKDGATILTHAYSRVVLRVLEAAVAAKKRFSV
  YVTESQPDLSGKKMAKALCHLNVPVTVVLDAAVGYIMEKADLVIVGAEGVVENGGIINKIGTNQMAVCAKAQNKP
  FYVVAESFKFVRLFPLNQQDVPDKFKYKADTLKVAQTGQDLKEEHPWVDYTAPSLITLLFTDLGVLTPSAVSDEL
  IKLYL

• Structural information:
  • Interpro: IPR042528  IPR000649  IPR042529  IPR037171  
  • PDB: 3ECS 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • PDBsum: 3ECS 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • STRING: ENSP00000416250
• Other Databases: GeneCards:  EIF2B1  Malacards:  EIF2B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	contributes to
GO:0005851	eukaryotic translation initiation factor 2B complex	IBA	cellular component
GO:0006413	translational initiation	IBA	biological process
GO:0003743	translation initiation factor activity	IBA	contributes to
GO:0006446	regulation of translational initiation	IBA	biological process
GO:0044237	cellular metabolic process	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:0016020	membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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:0005515	protein binding	IPI	molecular function
GO:0003743	translation initiation factor activity	IDA	contributes to
GO:0050852	T cell receptor signaling pathway	IDA	biological process
GO:0006413	translational initiation	IDA	biological process
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA	cellular component
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0014003	oligodendrocyte development	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0009408	response to heat	TAS	biological process
GO:0009408	response to heat	ISS	biological process
GO:0043434	response to peptide hormone	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa03013	RNA transport

Diseases

Associated diseases	References
Leukoencephalopathy with vanishing white matter	KEGG:H00869
Leukoencephalopathy with vanishing white matter	KEGG:H00869
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)