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

    Gene ID: 1933, updated on 3-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206159609..206162928)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (206641502..206644822)
    RS_2024_09 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 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. 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
    2. Nucleotide sequence of human elongation factor-1 beta cDNA. Sanders J, et al. Nucleic Acids Res, 1991 Aug 25. PMID 1886777, Free PMC Article
    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. New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability. Larcher L, et al. Clin Genet, 2020 Apr. PMID 31845318
    5. 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

    See all (188) 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_2024_08

    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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