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

Gene ID: 8893, updated on 1-Jun-2020

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
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; 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

Genomic context

See EIF2B5 in Genome Data Viewer
Location:
3q27.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (184135023..184145311)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183852810..183863099)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374249 Neighboring gene HTR3E antisense RNA 1 Neighboring gene 5-hydroxytryptamine receptor 3E Neighboring gene heat shock protein 90 alpha family class A member 5, pseudogene Neighboring gene ribosomal protein S3 pseudogene 3 Neighboring gene dishevelled segment polarity protein 3

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

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_003907.3NP_003898.2  translation initiation factor eIF-2B 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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    184135023..184145311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513266.3XP_011511568.1  translation initiation factor eIF-2B subunit epsilon isoform X2

    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
  2. XM_011513265.1XP_011511567.1  translation initiation factor eIF-2B subunit epsilon isoform X1

    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

RNA

  1. XR_001740353.2 RNA Sequence

  2. XR_924208.2 RNA Sequence

    Related
    ENST00000648890.1
  3. XR_001740352.2 RNA Sequence

    Related
    ENST00000650270.1
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