EIF2B4
entrez
8890
canonical
uniprot
Q9UI10
canonical
ensembl
ENSG00000115211
resolver
ensp
ENSP00000233552
resolver
ensp
ENSP00000384375
resolver
ensp
ENSP00000394397
resolver
ensp
ENSP00000394869
resolver
ensp
ENSP00000429323
resolver
enst
ENST00000405940
resolver
enst
ENST00000493344
resolver
genesymbol
EIF2B4
resolver
genesymbol_syn
EIF2BD
resolver
hgnc
HGNC:3260
resolver
uniprot
B4DUP5
resolver
uniprot
E7ERK9
resolver
uniprot
F8W8L6
resolver
uniprot
I6QSM4
resolver
uniprot
Q53RY7
resolver
uniprot
Q5BJF4
resolver
uniprot
Q71US4
resolver
uniprot
Q9BUV9
resolver
uniprot
Q9HBP7
resolver
uniprot
Q9UBG4
resolver
uniprot
Q9UIQ9
resolver
uniprot
Q9UJ95
resolver
uniprot_entry
B4DUP5_HUMAN
resolver
uniprot_entry
E7ERK9_HUMAN
resolver
uniprot_entry
EI2BD_HUMAN
resolver
uniprot_entry
F8W8L6_HUMAN
resolver
uniprot_entry
I6QSM4_HUMAN
resolver
uniprot_entry
Q71US4_HUMAN
resolver
uniprot_entry
Q9HBP7_HUMAN
resolver
uniprot_sec
Q53RY7
resolver
uniprot_sec
Q5BJF4
resolver
uniprot_sec
Q9BUV9
resolver
uniprot_sec
Q9UBG4
resolver
uniprot_sec
Q9UIQ9
resolver
uniprot_sec
Q9UJ95
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
MAAVAVAVREDSGSGMKAELPPGPGAVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPETGSAVSAAQCQVGPTRELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKGEQGGPPPKASPSTAGETPSGVKRLPEYPQVDDLLLRRLVKKPERQQVPTRKDYGSKVSLFSHLPQYSRQNSLTQFMSIPSSVIHPAMVRLGLQYSQGLVSGSNARCIALLRALQQVIQDYTTPPNEELSRDLVNKLKPYMSFLTQCRPLSASMHNAIKFLNKEITSVGSSKREEEAKSELRAAIDRYVQEKIVLAAQAISRFAYQKISNGDVILVYGCSSLVSRILQEAWTEGRRFRVVVVDSRPWLEGRHTLRSLVHAGVPASYLLIPAASYVLPEVSKVLLGAHALLANGSVMSRVGTAQLALVARAHNVPVLVCCETYKFCERVQTDAFVSNELDDPDDLQCKRGEHVALANWQNHASLRLLNLVYDVTPPELVDLVITELGMIPCSSVPVVLRVKSSDQ
uniprot
proteins
disease_involvement
DISEASE: Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314]: 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:12707859, 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
57557
uniprot
proteins
protein_family
EIF-2B alpha/beta/delta subunits family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11835386
uniprot
proteins
pubmed
12707859
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15776425
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25858979
uniprot
proteins
pubmed
27023709
uniprot
proteins
pubmed
28169297
uniprot
proteins
pubmed
31048492
uniprot
proteins
sequence_length
523
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q09924}.
uniprot
proteins