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Aliases for EIF2B1 Gene

Aliases for EIF2B1 Gene

  • Eukaryotic Translation Initiation Factor 2B, Subunit 1 Alpha, 26kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Alpha 3 4
  • EIF2BA 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 1 (Alpha, 26kD) 2
  • EIF2B 3

External Ids for EIF2B1 Gene

Previous HGNC Symbols for EIF2B1 Gene

  • EIF2B

Previous GeneCards Identifiers for EIF2B1 Gene

  • GC12M122707
  • GC12P123804
  • GC12M123829
  • GC12M122458
  • GC12M122630
  • GC12M124105
  • GC12M121066

Summaries for EIF2B1 Gene

Entrez Gene Summary for EIF2B1 Gene

  • 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]

GeneCards Summary for EIF2B1 Gene

EIF2B1 (Eukaryotic Translation Initiation Factor 2B, Subunit 1 Alpha, 26kDa) is a Protein Coding gene. Diseases associated with EIF2B1 include eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter and leukoencephalopathy with vanishing white matter. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include GTP binding and translation initiation factor activity.

UniProtKB/Swiss-Prot for EIF2B1 Gene

  • Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

Gene Wiki entry for EIF2B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B1 Gene

Genomics for EIF2B1 Gene

Regulatory Elements for EIF2B1 Gene

Genomic Location for EIF2B1 Gene

Chromosome:
12
Start:
123,620,406 bp from pter
End:
123,633,776 bp from pter
Size:
13,371 bases
Orientation:
Minus strand

Genomic View for EIF2B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for EIF2B1 Gene

Proteins for EIF2B1 Gene

  • Protein details for EIF2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14232-EI2BA_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit alpha
    Protein Accession:
    Q14232
    Secondary Accessions:
    • A6NLY9
    • B4DGX0
    • Q3SXP4

    Protein attributes for EIF2B1 Gene

    Size:
    305 amino acids
    Molecular mass:
    33712 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon

    Three dimensional structures from OCA and Proteopedia for EIF2B1 Gene

    Alternative splice isoforms for EIF2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF2B1 Gene

Proteomics data for EIF2B1 Gene at MOPED

Post-translational modifications for EIF2B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EIF2B1 Gene

Antibody Products

No data available for DME Specific Peptides for EIF2B1 Gene

Domains & Families for EIF2B1 Gene

Protein Domains for EIF2B1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q14232

UniProtKB/Swiss-Prot:

EI2BA_HUMAN :
  • Belongs to the eIF-2B alpha/beta/delta subunits family.
Family:
  • Belongs to the eIF-2B alpha/beta/delta subunits family.
genes like me logo Genes that share domains with EIF2B1: view

No data available for Gene Families for EIF2B1 Gene

Function for EIF2B1 Gene

Molecular function for EIF2B1 Gene

GENATLAS Biochemistry:
eukariotic translation initiation factor 2B,subunit 1 (alpha,26kDa)
UniProtKB/Swiss-Prot Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

Gene Ontology (GO) - Molecular Function for EIF2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 contributes_to translation initiation factor activity IDA 16289705
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IDA 11323413
GO:0005515 protein binding IPI 9235896
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IEA --
genes like me logo Genes that share ontologies with EIF2B1: view
genes like me logo Genes that share phenotypes with EIF2B1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EIF2B1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF2B1 Gene

Localization for EIF2B1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EIF2B1 Gene COMPARTMENTS Subcellular localization image for EIF2B1 gene
Compartment Confidence
plasma membrane 5
cytosol 4

Gene Ontology (GO) - Cellular Components for EIF2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 9235896
GO:0005829 cytosol TAS --
GO:0005851 eukaryotic translation initiation factor 2B complex IDA 11323413
GO:0005886 plasma membrane IDA 9235896
GO:0016020 membrane IDA 9235896
genes like me logo Genes that share ontologies with EIF2B1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B1 Gene

Pathways & Interactions for EIF2B1 Gene

genes like me logo Genes that share pathways with EIF2B1: view

Pathways by source for EIF2B1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for EIF2B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS --
GO:0006413 translational initiation TAS --
GO:0006417 regulation of translation --
GO:0006446 regulation of translational initiation IBA --
GO:0009408 response to heat TAS 12499492
genes like me logo Genes that share ontologies with EIF2B1: view

Drugs & Compounds for EIF2B1 Gene

(1) Drugs for EIF2B1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with EIF2B1: view

Transcripts for EIF2B1 Gene

Unigene Clusters for EIF2B1 Gene

Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EIF2B1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B1 Gene

No ASD Table

Relevant External Links for EIF2B1 Gene

GeneLoc Exon Structure for
EIF2B1
ECgene alternative splicing isoforms for
EIF2B1

Expression for EIF2B1 Gene

mRNA expression in normal human tissues for EIF2B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF2B1 Gene

This gene is overexpressed in Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EIF2B1 Gene



SOURCE GeneReport for Unigene cluster for EIF2B1 Gene Hs.741273

genes like me logo Genes that share expression patterns with EIF2B1: view

Protein tissue co-expression partners for EIF2B1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EIF2B1 Gene

Orthologs for EIF2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EIF2B1 35
  • 91.04 (n)
  • 95.08 (a)
EIF2B1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B1 35
  • 91.04 (n)
  • 96.39 (a)
EIF2B1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b1 35
  • 87.43 (n)
  • 94.1 (a)
Eif2b1 16
Eif2b1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EIF2B1 35
  • 99.34 (n)
  • 99.67 (a)
EIF2B1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif2b1 35
  • 86.67 (n)
  • 92.79 (a)
oppossum
(Monodelphis domestica)
Mammalia EIF2B1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2B1 35
  • 75.61 (n)
  • 83.11 (a)
EIF2B1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b1 35
  • 70.65 (n)
  • 80.07 (a)
Str.10227 35
zebrafish
(Danio rerio)
Actinopterygii LOC100151592 35
  • 71.74 (n)
  • 77.15 (a)
eif2b1 36
  • 77 (a)
OneToMany
eif2b1 36
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-alpha 37
  • 50 (a)
eIF2B-alpha 35
  • 55.97 (n)
  • 51.35 (a)
eIF2B-alpha 36
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012799 35
  • 54.56 (n)
  • 56.13 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1098.4 37
  • 42 (a)
ZK1098.4 35
  • 49.94 (n)
  • 43.19 (a)
ZK1098.4 36
  • 42 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR084C 35
  • 47.74 (n)
  • 41.46 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13970g 35
  • 48.56 (n)
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN3 35
  • 49.38 (n)
  • 43.77 (a)
GCN3 36
  • 42 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72340 35
  • 54.07 (n)
  • 47.42 (a)
soybean
(Glycine max)
eudicotyledons Gma.6702 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10349 35
rice
(Oryza sativa)
Liliopsida Os.18456 35
Os12g0497400 35
  • 53.57 (n)
  • 47.02 (a)
corn
(Zea mays)
Liliopsida Zm.12770 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC11E10.07c 35
  • 50.5 (n)
  • 42.86 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2507 36
  • 64 (a)
OneToOne
Species with no ortholog for EIF2B1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EIF2B1 Gene

ENSEMBL:
Gene Tree for EIF2B1 (if available)
TreeFam:
Gene Tree for EIF2B1 (if available)

Paralogs for EIF2B1 Gene

No data available for Paralogs for EIF2B1 Gene

Variants for EIF2B1 Gene

Sequence variations from dbSNP and Humsavar for EIF2B1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs3704 -- 123,626,387(+) GGGGT(A/G/T)GGGGA intron-variant
rs908373 -- 123,628,772(+) gaagg(C/G)aggtt intron-variant
rs1004583 -- 123,631,291(+) TGAAA(C/G/T)GAAGG intron-variant
rs1050397 -- 123,630,252(-) TTGAG(A/C/T)GGGGA synonymous-codon, reference, missense
rs1060637 -- 123,625,575(-) AGGAT(A/T)TTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EIF2B1 Gene

Variant ID Type Subtype PubMed ID
dgv530e1 CNV Complex 17122850
nsv442292 CNV CNV 18776908

Variation tolerance for EIF2B1 Gene

Residual Variation Intolerance Score: 40.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EIF2B1 Gene

HapMap Linkage Disequilibrium report
EIF2B1
Human Gene Mutation Database (HGMD)
EIF2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2B1 Gene

Disorders for EIF2B1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for EIF2B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

EI2BA_HUMAN
  • Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269 PubMed:11835386, ECO:0000269 PubMed:15776425}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EIF2B1

Genetic Association Database (GAD)
EIF2B1
Human Genome Epidemiology (HuGE) Navigator
EIF2B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF2B1
genes like me logo Genes that share disorders with EIF2B1: view

No data available for Genatlas for EIF2B1 Gene

Publications for EIF2B1 Gene

  1. The spectrum of mutations for the diagnosis of vanishing white matter disease. (PMID: 16998732) Scali O. … Federico A. (Neurol. Sci. 2006) 23 67
  2. Diversification of catalytic activities and ligand interactions in the protein fold shared by the sugar isomerases, eIF2B, DeoR transcription factors, acyl-CoA transferases and methenyltetrahydrofolate synthetase. (PMID: 16376935) Anantharaman V. … Aravind L. (J. Mol. Biol. 2006) 23 67
  3. Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A. … Gartner J. (Hum. Mutat. 2005) 23 67
  4. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. (PMID: 14572143) Leegwater P.A. … van der Knaap M.S. (J. Child Neurol. 2003) 23 67
  5. eIF2B-related disorders: antenatal onset and involvement of multiple organs. (PMID: 14566705) van der Knaap M.S. … Pronk J.C. (Am. J. Hum. Genet. 2003) 23 67

Products for EIF2B1 Gene

Sources for EIF2B1 Gene

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