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EIF2B1 - eukaryotic translation initiation factor 2B subunit alpha (human)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2025-01-10
Description
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 EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
Enables identical protein binding activity. Contributes to guanyl-nucleotide exchange factor activity and translation initiation factor activity. Involved in T cell receptor signaling pathway; cytoplasmic translational initiation; and oligodendrocyte development. Located in cytoplasm and plasma membrane. Part of eukaryotic translation initiation factor 2B complex. Implicated in leukoencephalopathy with vanishing white matter 1.

The EIF2B1 gene provides instructions for making one of five parts of a protein called eIF2B, specifically the alpha subunit of this protein. The eIF2B protein helps regulate overall protein production (synthesis) in the cell by interacting with another protein, eIF2. The eIF2 protein is called an initiation factor because it is involved in starting (initiating) protein synthesis.

Under some conditions, eIF2B increases protein synthesis by helping to recycle molecules called GTP, which carry energy to the initiation factor. Under other conditions, it slows protein synthesis by binding tightly to the initiation factor, which converts the eIF2B protein into an inactive form and prevents recycling of GTP.

Proper regulation of protein synthesis is vital for ensuring that the correct levels of protein are available for the cell to cope with changing conditions. For example, cells must synthesize protein much faster if they are multiplying than if they are in a resting state.

1 Names and Identifiers

1.1 Synonyms

  • EIF2B
  • EIF2BA
  • EIF2Balpha
  • VWM1
  • translation initiation factor eIF2B subunit alpha
  • eIF-2B GDP-GTP exchange factor subunit alpha
  • eIF2B GDP-GTP exchange factor subunit alpha
  • eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa

1.1.1 MeSH Entry Terms

  • EIF2B-epsilon
  • EIF-2B
  • EIF2B1
  • EIF2B-alpha
  • EIF2B-beta
  • EIF2B
  • EIF2B-delta
  • EIF2B-gamma
  • Eukaryotic Initiation Factor-2B, alpha Subunit
  • Eukaryotic Initiation Factor-2B, beta Subunit
  • Eukaryotic Initiation Factor-2B, delta Subunit
  • Eukaryotic Initiation Factor-2B, gamma Subunit
  • Eukaryotic Initiation Factor-2B, epsilon Subunit
  • Eukaryotic Peptide Initiation Factor-2B
  • Peptide Initiation Factor EIF-2B

1.2 Other Identifiers

1.2.1 HGNC ID

1.2.2 Ensembl ID

1.2.3 Alliance Gene ID

1.2.4 Bgee Gene ID

1.2.5 GenCC ID

1.2.6 KEGG Gene

1.2.7 MIM Number

1.2.8 NCI Thesaurus Code

1.2.9 Open Targets ID

1.2.10 PharmGKB ID

1.2.11 Pharos Target

1.2.12 VEuPathDB ID

1.2.13 Wikidata

3 Proteins

3.1 Protein Function

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PMID: 25858979, PMID: 27023709, PMID: 31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (PMID: 25858979, PMID: 31048492).

3.2 Protein Isoforms

Isoform
Isoform 1
UniProt ID
RefSeq Accession
Isoform
Isoform 2
UniProt ID
RefSeq Accession

3.3 Protein 3D Structures

3.3.1 PDB Structures

3.3.2 NCBI Protein Structures

3.3.3 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.4 Protein Targets

4 BioAssays

4.1 RNAi BioAssays

5 Diseases and Phenotypes

5.1 GHR Health Conditions

5.2 KEGG Diseases

5.3 OMIM Phenotypes

5.4 MedGen Diseases

5.5 Gene-Disease Associations

6 Interactions and Pathways

6.1 Chemical-Gene Interactions

6.2 Interactions

6.3 Pathways

7 Biochemical Reactions

8 Expression

9 Target Development Level

10 Literature

10.1 Consolidated References

10.2 NLM Curated PubMed Citations

10.3 Gene-Chemical Co-Occurrences in Literature

10.4 Gene-Gene Co-Occurrences in Literature

10.5 Gene-Disease Co-Occurrences in Literature

11 Patents

11.1 Gene-Chemical Co-Occurrences in Patents

11.2 Gene-Gene Co-Occurrences in Patents

11.3 Gene-Disease Co-Occurrences in Patents

12 Classification

12.1 MeSH Tree

12.2 NCI Thesaurus Tree

12.3 Gene Ontology: Biological Process

12.4 Gene Ontology: Cellular Component

12.5 Gene Ontology: Molecular Function

13 Information Sources

  1. NCBI Gene
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  2. PubChem
  3. Medical Subject Headings (MeSH)
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    https://www.nlm.nih.gov/copyright.html
    Eukaryotic Initiation Factor-2B
    https://meshb.nlm.nih.gov/record/ui?ui=D020717
  4. Alliance of Genome Resources
    LICENSE
    All annotations and data produced by Alliance members that are accessible from alliancegenome.org are distributed under a CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
    https://www.alliancegenome.org/privacy-warranty-licensing
  5. MedlinePlus Genetics
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    https://medlineplus.gov/about/using/usingcontent/
  6. BioGRID
    LICENSE
    The MIT License (MIT); Copyright Mike Tyers Lab
    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  7. STRING: functional protein association networks
  8. Comparative Toxicogenomics Database (CTD)
    LICENSE
    It is to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of NC State University.
    http://ctdbase.org/about/legal.jsp
  9. Drug Gene Interaction database (DGIdb)
    LICENSE
    The data used in DGIdb is all open access and where possible made available as raw data dumps in the downloads section.
    http://www.dgidb.org/downloads
  10. Therapeutic Target Database (TTD)
  11. Open Targets
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    Datasets generated by the Open Targets Platform are freely available for download.
    https://platform-docs.opentargets.org/licence
  12. Gene Curation Coalition (GenCC)
    LICENSE
    The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
    https://thegencc.org/terms.html
    EIF2B1
  13. HUGO Gene Nomenclature Committee (HGNC)
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    https://www.genenames.org/about/
  14. KEGG
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    https://www.kegg.jp/kegg/legal.html
  15. NCBI Gene Expression Omnibus (GEO)
  16. NCBI MedGen
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    https://www.ncbi.nlm.nih.gov/home/about/policies/
  17. NCBI Structure
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  18. NCI Thesaurus (NCIt)
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    https://www.cancer.gov/policies/copyright-reuse
  19. Online Mendelian Inheritance in Man (OMIM)
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    https://omim.org/help/copyright
  20. PharmGKB
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    https://www.pharmgkb.org/page/policies
  21. Pharos
    LICENSE
    Data accessed from Pharos and TCRD is publicly available from the primary sources listed above. Please respect their individual licenses regarding proper use and redistribution.
    https://pharos.nih.gov/about
  22. RCSB Protein Data Bank (RCSB PDB)
    LICENSE
    Data files contained in the PDB archive (ftp://ftp.wwpdb.org) are free of all copyright restrictions and made fully and freely available for both non-commercial and commercial use. Users of the data should attribute the original authors of that structural data.
    https://www.rcsb.org/pages/policies
  23. Swiss Institute of Bioinformatics Bgee
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    https://www.bgee.org/about/
  24. UniProt
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    https://www.uniprot.org/help/license
  25. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
    LICENSE
    All data on VEuPathDB websites are provided freely for public use.
    https://veupathdb.org/veupathdb/app/static-content/about.html
  26. Wikidata
  27. Gene Ontology (GO)
    LICENSE
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    http://geneontology.org/docs/go-citation-policy/
  28. AlphaFold DB
    LICENSE
    All of the data provided is freely available for both academic and commercial use under Creative Commons Attribution 4.0 (CC-BY 4.0) licence terms.
    https://alphafold.ebi.ac.uk/faq
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