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    EIF2B1 eukaryotic translation initiation factor 2B subunit alpha [ Homo sapiens (human) ]

    Gene ID: 1967, updated on 12-Aug-2018

    Summary

    Official Symbol
    EIF2B1provided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 2B subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3257
    See related
    Ensembl:ENSG00000111361 MIM:606686; Vega:OTTHUMG00000168696
    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
    EIF2B; EIF2BA
    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, Oct 2009]
    Expression
    Ubiquitous expression in lymph node (RPKM 22.1), skin (RPKM 20.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See EIF2B1 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (123621023..123633776, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124105570..124118323, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane p24 trafficking protein 2 Neighboring gene uncharacterized LOC105370041 Neighboring gene DEAD-box helicase 55 Neighboring gene small nucleolar RNA, H/ACA box 9B Neighboring gene general transcription factor IIH subunit 3 Neighboring gene tectonic family member 2 Neighboring gene uncharacterized LOC105370042 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene ribosomal protein L27 pseudogene 12

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cap-dependent Translation Initiation, organism-specific biosystem (from REACTOME)
      Cap-dependent Translation Initiation, organism-specific biosystemTranslation initiation is a complex process in which the Met-tRNAi initiator, 40S, and 60S ribosomal subunits are assembled by eukaryotic initiation factors (eIFs) into an 80S ribosome at the start c...
    • Eukaryotic Translation Initiation, organism-specific biosystem (from REACTOME)
      Eukaryotic Translation Initiation, organism-specific biosystemInitiation of translation in the majority of eukaryotic cellular mRNAs depends on the 5'-cap (m7GpppN) and involves ribosomal scanning of the 5' untranslated region (5'-UTR) for an initiating AUG sta...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • Recycling of eIF2:GDP, organism-specific biosystem (from REACTOME)
      Recycling of eIF2:GDP, organism-specific biosystemThe active eIF2:GTP complex may be formed by direct binding of GTP to free eIF2 or by GDP-GTP exchange on the eIF2:GDP:eIF2B complex. The eIF2:GDP complex binds eIF2B forming an eIF2:GDP:eIF2B interm...
    • Translation, organism-specific biosystem (from REACTOME)
      Translation, organism-specific biosystemProtein synthesis is accomplished through the process of translation of an mRNA sequence into a polypeptide chain. This process can be divided into three distinct stages: initiation, elongation and ...
    • Translation Factors, organism-specific biosystem (from WikiPathways)
      Translation Factors, organism-specific biosystemProtein synthesis is the ultimate step of gene expression and a key control point for regulation. In particular, it enables cells to rapidly manipulate protein production without new mRNA synthesis, ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC117409, MGC125868, MGC125869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to translation initiation factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oligodendrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to heat ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to heat TAS
    Traceable Author Statement
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
     
    eukaryotic translation initiation factor 2B complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    translation initiation factor eIF-2B subunit alpha
    Names
    eIF-2B GDP-GTP exchange factor subunit alpha
    eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa

    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_015862.1 RefSeqGene

      Range
      5001..17754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001414.3NP_001405.1  translation initiation factor eIF-2B subunit alpha

      See identical proteins and their annotated locations for NP_001405.1

      Status: REVIEWED

      Source sequence(s)
      AI540796, BC103763, DA221985, DA879094
      Consensus CDS
      CCDS31924.1
      UniProtKB/Swiss-Prot
      Q14232
      Related
      ENSP00000416250.2, OTTHUMP00000239201, ENST00000424014.6, OTTHUMT00000400628
      Conserved Domains (1) summary
      pfam01008
      Location:15293
      IF-2B; Initiation factor 2 subunit family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      123621023..123633776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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