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

Gene ID: 8893, updated on 3-Dec-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184135358..184145311)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186944907..186954859)
RS_2024_09 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
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
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
translation initiation factor eIF-2B subunit epsilon

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_2024_08

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 eIF2B subunit epsilon isoform X1

    UniProtKB/TrEMBL
    A0A3B3ISX3, A0A3B3ITG6
    Related
    ENSP00000497503.1, ENST00000648890.1
  2. XM_011513265.1XP_011511567.1  translation initiation factor eIF2B 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 eIF2B 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 eIF2B subunit epsilon isoform X1

    UniProtKB/TrEMBL
    A0A3B3ISX3, A0A3B3ITG6
  2. XM_054348281.1XP_054204256.1  translation initiation factor eIF2B subunit epsilon isoform X2

  3. XM_054348282.1XP_054204257.1  translation initiation factor eIF2B subunit epsilon isoform X3