EIF2B1
entrez
1967
canonical
uniprot
Q14232
canonical
ensembl
ENSG00000111361
resolver
ensp
ENSP00000416250
resolver
genesymbol
EIF2B1
resolver
genesymbol_syn
EIF2BA
resolver
hgnc
HGNC:3257
resolver
uniprot
A6NLY9
resolver
uniprot
B4DGX0
resolver
uniprot
Q3SXP4
resolver
uniprot_entry
EI2BA_HUMAN
resolver
uniprot_sec
A6NLY9
resolver
uniprot_sec
B4DGX0
resolver
uniprot_sec
Q3SXP4
resolver
activity_regulation
ACTIVITY REGULATION: Activated by the chemical integrated stress response (ISR) inhibitor ISRIB which stimulates guanine nucleotide exchange factor activity for both phosphorylated and unphosphorylated eIF2. {ECO:0000269|PubMed:25858979}.
uniprot
proteins
amino_acid_sequence
MDDKELIEYFKSQMKEDPDMASAVAAIRTLLEFLKRDKGETIQGLRANLTSAIETLCGVDSSVAVSSGGELFLRFISLASLEYSDYSKCKKIMIERGELFLRRISLSRNKIADLCHTFIKDGATILTHAYSRVVLRVLEAAVAAKKRFSVYVTESQPDLSGKKMAKALCHLNVPVTVVLDAAVGYIMEKADLVIVGAEGVVENGGIINKIGTNQMAVCAKAQNKPFYVVAESFKFVRLFPLNQQDVPDKFKYKADTLKVAQTGQDLKEEHPWVDYTAPSLITLLFTDLGVLTPSAVSDELIKLYL
uniprot
proteins
disease_involvement
DISEASE: Leukoencephalopathy with vanishing white matter 1 (VWM1) [MIM:603896]: An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (PubMed:25858979, PubMed:31048492). {ECO:0000269|PubMed:25858979, ECO:0000269|PubMed:27023709, ECO:0000269|PubMed:31048492}.
uniprot
proteins
mass_dalton
33712
uniprot
proteins
protein_family
EIF-2B alpha/beta/delta subunits family
uniprot
proteins
pubmed
11835386
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15776425
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25858979
uniprot
proteins
pubmed
27023709
uniprot
proteins
pubmed
31048492
uniprot
proteins
sequence_length
305
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9USP0}.
uniprot
proteins