Human Gene EIF2B1 (ENST00000424014.7) from GENCODE V44
Description: Homo sapiens eukaryotic translation initiation factor 2B subunit alpha (EIF2B1), mRNA. (from RefSeq NM_001414) RefSeq Summary (NM_001414): 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]. Gencode Transcript: ENST00000424014.7 Gencode Gene: ENSG00000111361.13 Transcript (Including UTRs) Position: hg38 chr12:123,620,406-123,633,686 Size: 13,281 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr12:123,621,756-123,633,557 Size: 11,802 Coding Exon Count: 9
ID:EI2BA_HUMAN DESCRIPTION: RecName: Full=Translation initiation factor eIF-2B subunit alpha; AltName: Full=eIF-2B GDP-GTP exchange factor subunit alpha; FUNCTION: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. SUBUNIT: Complex of five different subunits; alpha, beta, gamma, delta and epsilon. INTERACTION: Q01338:Adra2a (xeno); NbExp=2; IntAct=EBI-491065, EBI-491073; P30545:Adra2b (xeno); NbExp=2; IntAct=EBI-491065, EBI-491084; DISEASE: Defects in EIF2B1 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:603896]. VWM is 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. SIMILARITY: Belongs to the eIF-2B alpha/beta/delta subunits family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B1"; WEB RESOURCE: Name=Mendelian genes eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/EIF2B1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14232
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
