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    EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon [ Homo sapiens (human) ]

    Gene ID: 8893, updated on 5-May-2024

    Summary

    Official Symbol
    EIF2B5provided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 2B subunit epsilonprovided by HGNC
    Primary source
    HGNC:HGNC:3261
    See related
    Ensembl:ENSG00000145191 MIM:603945; AllianceGenome:HGNC:3261
    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
    CLE; CACH; LVWM; VWM5; EIF-2B; EIF2Bepsilon
    Summary
    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, Nov 2009]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.1), spleen (RPKM 11.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See EIF2B5 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184135358..184145311)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186944907..186954859)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183853146..183863099)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene heat shock protein 90 alpha family class A member 5, pseudogene Neighboring gene EIF2B5 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183851535-183852176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14955 Neighboring gene ribosomal protein S3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183873749-183874626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183874627-183875502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183878685-183879185 Neighboring gene dishevelled segment polarity protein 3 Neighboring gene Sharpr-MPRA regulatory region 1463

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of EIF2B5 PubMed
    Knockdown of eukaryotic translation initiation factor 2B, subunit 5 epsilon, (EIF2B5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to translation initiation factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables translation initiation factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables translation initiation factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables translation initiation factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in astrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in astrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoplasmic translational initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oligodendrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ovarian follicle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of translational initiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to heat IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to heat ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to heat TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to peptide hormone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in translational initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of eukaryotic translation initiation factor 2B complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of eukaryotic translation initiation factor 2B complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    translation initiation factor eIF2B subunit epsilon; translation initiation factor eIF-2B subunit epsilon
    Names
    eIF-2B GDP-GTP exchange factor subunit epsilon
    eIF2B GDP-GTP exchange factor subunit epsilon
    eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_015826.1 RefSeqGene

      Range
      5337..15290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1278

    mRNA and Protein(s)

    1. NM_003907.3NP_003898.2  translation initiation factor eIF2B subunit epsilon

      See identical proteins and their annotated locations for NP_003898.2

      Status: REVIEWED

      Source sequence(s)
      AC131235, BC013590
      Consensus CDS
      CCDS3252.1
      UniProtKB/Swiss-Prot
      Q13144, Q541Z1, Q96D04
      UniProtKB/TrEMBL
      A0A3B3IUB1
      Related
      ENSP00000497160.1, ENST00000648915.2
      Conserved Domains (4) summary
      cd05787
      Location:361439
      LbH_eIF2B_epsilon; eIF-2B epsilon subunit, central Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...
      cd04197
      Location:43257
      eIF-2B_epsilon_N; The N-terminal domain of epsilon subunit of the eIF-2B is a subfamily of glycosyltransferase 2
      cd11558
      Location:548711
      W2_eIF2B_epsilon; C-terminal W2 domain of eukaryotic translation initiation factor 2B epsilon
      COG1044
      Location:300410
      LpxD; UDP-3-O-[3-hydroxymyristoyl] glucosamine N-acyltransferase [Cell wall/membrane/envelope biogenesis]

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      184135358..184145311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449148.1XP_047305104.1  translation initiation factor eIF-2B subunit epsilon isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISX3
      Related
      ENSP00000497503.1, ENST00000648890.1
    2. XM_011513265.1XP_011511567.1  translation initiation factor eIF-2B subunit epsilon isoform X2

      Conserved Domains (2) summary
      cd05787
      Location:111189
      LbH_eIF2B_epsilon; eIF-2B epsilon subunit, central Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...
      cd11558
      Location:298461
      W2_eIF2B_epsilon; C-terminal W2 domain of eukaryotic translation initiation factor 2B epsilon
    3. XM_011513266.4XP_011511568.1  translation initiation factor eIF-2B subunit epsilon isoform X3

      Conserved Domains (2) summary
      cd05787
      Location:82160
      LbH_eIF2B_epsilon; eIF-2B epsilon subunit, central Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...
      cd11558
      Location:269432
      W2_eIF2B_epsilon; C-terminal W2 domain of eukaryotic translation initiation factor 2B epsilon

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      186944907..186954859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348280.1XP_054204255.1  translation initiation factor eIF-2B subunit epsilon isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISX3
    2. XM_054348281.1XP_054204256.1  translation initiation factor eIF-2B subunit epsilon isoform X2

    3. XM_054348282.1XP_054204257.1  translation initiation factor eIF-2B subunit epsilon isoform X3