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

Gene ID: 1967, updated on 31-Jul-2021

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
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
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Genomic context

See EIF2B1 in Genome Data Viewer
Location:
12q24.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123620406..123633686, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124104953..124118233, 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

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?

Pathways from PubChem

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 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 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to translation initiation factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to translation initiation factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in oligodendrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
involved_in response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 TAS
Traceable Author Statement
more info
 
part_of eukaryotic translation initiation factor 2B complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of eukaryotic translation initiation factor 2B complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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.

Genomic

  1. NG_015862.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001414.4NP_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)
    AC117503
    Consensus CDS
    CCDS31924.1
    UniProtKB/Swiss-Prot
    Q14232
    Related
    ENSP00000416250.2, ENST00000424014.7
    Conserved Domains (1) summary
    pfam01008
    Location:15293
    IF-2B; Initiation factor 2 subunit family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    123620406..123633686 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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