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EEF1B2 eukaryotic translation elongation factor 1 beta 2 [ Homo sapiens (human) ]

Gene ID: 1933, updated on 7-Apr-2024

Summary

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Official Symbol
EEF1B2provided by HGNC
Official Full Name
eukaryotic translation elongation factor 1 beta 2provided by HGNC
Primary source
HGNC:HGNC:3208
See related
Ensembl:ENSG00000114942 MIM:600655; AllianceGenome:HGNC:3208
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EF1B; EEF1B; EEF1B1
Summary
This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 282.5), lymph node (RPKM 249.8) and 25 other tissues See more
Orthologs
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Genomic context

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See EEF1B2 in Genome Data Viewer
Location:
2q33.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206159609..206162928)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (206641502..206644822)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (207024333..207027652)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene INO80 complex subunit D Neighboring gene Sharpr-MPRA regulatory region 7917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12265 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:206950661-206951480 Neighboring gene INO80D antisense RNA 1 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S1 Neighboring gene GCSH pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12266 Neighboring gene small nucleolar RNA, C/D box 51 Neighboring gene small nucleolar RNA, H/ACA box 41 Neighboring gene chemerin chemokine-like receptor 2 Neighboring gene CMKLR2 antisense RNA Neighboring gene RN7SK pseudogene 200

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability. Larcher L, et al. Clin Genet, 2020 Apr. PMID 31845318
  2. The protein-binding N-terminal domain of human translation elongation factor 1Bβ possesses a dynamic α-helical structural organization. Bondarchuk TV, et al. Int J Biol Macromol, 2019 Apr 1. PMID 30590147
  3. Translation elongation factor eEF1Bα is identified as a novel prognostic marker of gastric cancer. Jia L, et al. Int J Biol Macromol, 2019 Apr 1. PMID 30572058
  4. An update on the biophysical character of the human eukaryotic elongation factor 1 beta: Perspectives from interaction with elongation factor 1 gamma. Achilonu I, et al. J Mol Recognit, 2018 Jul. PMID 29572982
  5. Nucleotide sequence of human elongation factor-1 beta cDNA. Sanders J, et al. Nucleic Acids Res, 1991 Aug 25. PMID 1886777, Free PMC Article

See all (163) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2.
    Title: Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2.
  2. New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
    Title: New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
  3. It has been postulated that the N-terminus region of EF1beta may be responsible for its dimerization and the C-terminus region of this protein modulates the formation of an ordered EF1beta-gamma oligomer, a structure that may be essential in the elongation step of eukaryotic protein biosynthesis.
    Title: An update on the biophysical character of the human eukaryotic elongation factor 1 beta: Perspectives from interaction with elongation factor 1 gamma.
  4. the protein-binding domain of eEF1Bbeta shows flexible spatial organization which may be needed for interaction with eEF1Bgamma or other protein partners.
    Title: The protein-binding N-terminal domain of human translation elongation factor 1Bβ possesses a dynamic α-helical structural organization.
  5. high eEF1Balpha expression is associated with poor overall survival and may serve as an independent prognostic factor of gastric cancer.
    Title: Translation elongation factor eEF1Bα is identified as a novel prognostic marker of gastric cancer.
  6. Both eEF1A1 and eEF1A2 colocalise with all eEF1B subunits, in such close proximity that they are highly likely to be in a complex.
    Title: Characterisation of translation elongation factor eEF1B subunit expression in mammalian cells and tissues and co-localisation with eEF1A2.
  7. Cathepsin D and eEF1 are promising markers for the detection of cellular senescence induced by a variety of treatments.
    Title: Cathepsin D and eukaryotic translation elongation factor 1 as promising markers of cellular senescence.
  8. TCTP preferentially stabilized the GDP form of eEF1A, and, furthermore, impaired the GDP exchange reaction promoted by eEF1Bbeta.
    Title: Translationally controlled tumor protein acts as a guanine nucleotide dissociation inhibitor on the translation elongation factor eEF1A.
  9. Results indicate an evolutionary lineage of translation initiation factor eIF2alpha/gamma from the functionally related elongation factor eEF1Balpha/eEF1A complex.
    Title: Solution structure of human initiation factor eIF2alpha reveals homology to the elongation factor eEF1B.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables translation elongation factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in translational elongation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in translational elongation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
colocalizes_with endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
part_of eukaryotic translation elongation factor 1 complex NAS
Non-traceable Author Statement
more info
 PubMed 
NOT located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
elongation factor 1-beta
Names
EF-1-beta
eukaryotic translation elongation factor 1 beta 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037663.2 → NP_001032752.1  elongation factor 1-beta

    See identical proteins and their annotated locations for NP_001032752.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a distinct 5' UTR compared to variants 1 and 2. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BM747256, BU565415, BU627453
    Consensus CDS
    CCDS2367.1
    UniProtKB/Swiss-Prot
    A8K795, P24534, Q6IBH9
    UniProtKB/TrEMBL
    A4D1M6
    Related
    ENSP00000407730.2, ENST00000445505.6
    Conserved Domains (3) summary
    cd10308
    Location:3 → 62
    GST_C_eEF1b_like; Glutathione S-transferase C-terminal-like, alpha helical domain of eukaryotic translation Elongation Factor 1 beta
    pfam00736
    Location:142 → 225
    EF1_GNE; EF-1 guanine nucleotide exchange domain
    pfam10587
    Location:103 → 130
    EF-1_beta_acid; Eukaryotic elongation factor 1 beta central acidic region

  2. NM_001959.4 → NP_001950.1  elongation factor 1-beta

    See identical proteins and their annotated locations for NP_001950.1

    Status: REVIEWED

    Description
    Transcript Variant: This predominant variant (1) has a distinct 5' UTR. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    X60489
    Consensus CDS
    CCDS2367.1
    UniProtKB/Swiss-Prot
    A8K795, P24534, Q6IBH9
    UniProtKB/TrEMBL
    A4D1M6
    Related
    ENSP00000376056.2, ENST00000392222.7
    Conserved Domains (3) summary
    cd10308
    Location:3 → 62
    GST_C_eEF1b_like; Glutathione S-transferase C-terminal-like, alpha helical domain of eukaryotic translation Elongation Factor 1 beta
    pfam00736
    Location:142 → 225
    EF1_GNE; EF-1 guanine nucleotide exchange domain
    pfam10587
    Location:103 → 130
    EF-1_beta_acid; Eukaryotic elongation factor 1 beta central acidic region

  3. NM_021121.4 → NP_066944.1  elongation factor 1-beta

    See identical proteins and their annotated locations for NP_066944.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a distinct 5' UTR compared to variants 1 and 3. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BU565415, BU627453, X60656
    Consensus CDS
    CCDS2367.1
    UniProtKB/Swiss-Prot
    A8K795, P24534, Q6IBH9
    UniProtKB/TrEMBL
    A4D1M6
    Related
    ENSP00000236957.5, ENST00000236957.9
    Conserved Domains (3) summary
    cd10308
    Location:3 → 62
    GST_C_eEF1b_like; Glutathione S-transferase C-terminal-like, alpha helical domain of eukaryotic translation Elongation Factor 1 beta
    pfam00736
    Location:142 → 225
    EF1_GNE; EF-1 guanine nucleotide exchange domain
    pfam10587
    Location:103 → 130
    EF-1_beta_acid; Eukaryotic elongation factor 1 beta central acidic region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    206159609..206162928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495299.1 Reference GRCh38.p14 PATCHES

    Range
    268627..271946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    206641502..206644822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P24534.3 GenPept UniProtKB/Swiss-Prot:P24534

Gene LinkOut

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