EIF2S3
entrez
1968
canonical
uniprot
P41091
canonical
ensembl
ENSG00000130741
resolver
ensp
ENSP00000253039
resolver
enst
ENST00000253039
resolver
genesymbol
EIF2S3
resolver
genesymbol_syn
EIF2G
resolver
hgnc
HGNC:3267
resolver
uniprot
A0A024RBY4
resolver
uniprot
A8K2Y2
resolver
uniprot
B2R5N2
resolver
uniprot
B5BTZ4
resolver
uniprot
Q53HK3
resolver
uniprot_entry
IF2G_HUMAN
resolver
uniprot_sec
A0A024RBY4
resolver
uniprot_sec
A8K2Y2
resolver
uniprot_sec
B2R5N2
resolver
uniprot_sec
B5BTZ4
resolver
uniprot_sec
Q53HK3
resolver
amino_acid_sequence
MAGGEAGVTLGQPHLSRQDLTTLDVTKLTPLSHEVISRQATINIGTIGHVAHGKSTVVKAISGVHTVRFKNELERNITIKLGYANAKIYKLDDPSCPRPECYRSCGSSTPDEFPTDIPGTKGNFKLVRHVSFVDCPGHDILMATMLNGAAVMDAALLLIAGNESCPQPQTSEHLAAIEIMKLKHILILQNKIDLVKESQAKEQYEQILAFVQGTVAEGAPIIPISAQLKYNIEVVCEYIVKKIPVPPRDFTSEPRLIVIRSFDVNKPGCEVDDLKGGVAGGSILKGVLKVGQEIEVRPGIVSKDSEGKLMCKPIFSKIVSLFAEHNDLQYAAPGGLIGVGTKIDPTLCRADRMVGQVLGAVGALPEIFTELEISYFLLRRLLGVRTEGDKKAAKVQKLSKNEVLMVNIGSLSTGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWRLIGWGQIRRGVTIKPTVDDD
uniprot
proteins
disease_involvement
DISEASE: MEHMO syndrome (MEHMO) [MIM:300148]: An X-linked recessive syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. {ECO:0000269|PubMed:23063529, ECO:0000269|PubMed:27333055, ECO:0000269|PubMed:28055140, ECO:0000269|PubMed:30517694, ECO:0000269|PubMed:32799315}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in EIF2S3 are the cause of hypopituitarism with glucose dysregulation. {ECO:0000269|PubMed:30878599}.
uniprot
proteins
ec_number
3.6.5.3
uniprot
proteins
function
FUNCTION: Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the 43S pre-initiation complex (43S PIC) (By similarity). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex (By similarity). In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF-2B (By similarity). {ECO:0000250|UniProtKB:P05198, ECO:0000269|PubMed:31836389}.
uniprot
proteins
mass_dalton
51109
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
EIF2G subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23063529
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27333055
uniprot
proteins
pubmed
28055140
uniprot
proteins
pubmed
29401259
uniprot
proteins
pubmed
30517694
uniprot
proteins
pubmed
30878599
uniprot
proteins
pubmed
31048491
uniprot
proteins
pubmed
31048492
uniprot
proteins
pubmed
31836389
uniprot
proteins
pubmed
32799315
uniprot
proteins
pubmed
35031321
uniprot
proteins
pubmed
37507029
uniprot
proteins
pubmed
8106381
uniprot
proteins
pubmed
9736774
uniprot
proteins
sequence_length
472
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q09130}.
uniprot
proteins