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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]
EIF2B1 (Eukaryotic Translation Initiation Factor 2B Subunit Alpha) is a Protein Coding gene. Diseases associated with EIF2B1 include Leukoencephalopathy With Vanishing White Matter and Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter. Among its related pathways are Beta-Adrenergic Signaling and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include GTP binding and translation initiation factor activity. An important paralog of this gene is EIF2B2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003743 | contributes_to translation initiation factor activity | IBA,IDA | 16289705 |
GO:0005085 | contributes_to guanyl-nucleotide exchange factor activity | IBA,IDA | 11323413 |
GO:0005515 | protein binding | IPI | 9235896 |
GO:0042802 | identical protein binding | IPI | 25416956 |
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 | IBA,IDA | 11323413 |
GO:0005886 | plasma membrane | IDA | 9235896 |
GO:0016020 | membrane | IDA | 9235896 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Viral mRNA Translation |
.77
|
|
2 | NFAT and Cardiac Hypertrophy |
Signaling Involved in Cardiac Hypertrophy
.42
|
IGF1R Signaling
.37
|
3 | Translation Factors | ||
4 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Translation Insulin regulation of translation
.59
|
Translation Regulation of EIF2 activity
.47
|
5 | Herpes simplex virus 1 infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006413 | translational initiation | IBA,IDA | 16289705 |
GO:0006446 | regulation of translational initiation | IBA | 21873635 |
GO:0009408 | response to heat | TAS | -- |
GO:0009749 | response to glucose | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EIF2B1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EIF2B1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EIF2B1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EIF2B1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EIF2B1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Eif2b1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eif2b1 30 |
|
||
Chicken (Gallus gallus) |
Aves | EIF2B1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EIF2B1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eif2b1 30 |
|
||
Str.10227 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | eif2b1 31 31 |
|
OneToMany | |
LOC100151592 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | eIF2B-alpha 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012799 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ZK1098.4 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCN3 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F13970g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR084C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G72340 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10349 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.6702 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0497400 30 |
|
||
Os.18456 30 |
|
||||
Corn (Zea mays) |
Liliopsida | Zm.12770 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2507 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC11E10.07c 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
813657 | Uncertain Significance: Microcephaly; Leukoencephalopathy with vanishing white matter | 123,633,551(-) |
C/A NM_001414.4(EIF2B1):c.7G>T (p.Asp3Tyr) |
MISSENSE | |
881126 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,621,248(-) |
T/A NM_001414.4(EIF2B1):c.*508A>T |
THREE_PRIME_UTR | |
881597 | Benign: Leukoencephalopathy with vanishing white matter | 123,621,402(-) |
G/T NM_001414.4(EIF2B1):c.*354C>A |
THREE_PRIME_UTR | |
881598 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,621,424(-) |
T/C NM_001414.4(EIF2B1):c.*332A>G |
THREE_PRIME_UTR | |
881599 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,621,537(-) |
G/A NM_001414.4(EIF2B1):c.*219C>T |
THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1566n100 | CNV | gain | 25217958 |
dgv309e214 | CNV | gain | 21293372 |
dgv524e212 | CNV | loss | 25503493 |
esv2759918 | CNV | gain | 17122850 |
nsv1042181 | CNV | gain | 25217958 |
nsv442292 | CNV | gain | 18776908 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukoencephalopathy with vanishing white matter |
|
|
childhood ataxia with central nervous system hypomyelination / vanishing white matter |
|
|
leukodystrophy |
|
|
megalencephalic leukoencephalopathy with subcortical cysts 1 |
|
|
spastic ataxia 4 |
|
|