EIF4H
entrez
7458
canonical
uniprot
Q15056
canonical
ensembl
ENSG00000106682
resolver
ensp
ENSP00000265753
resolver
ensp
ENSP00000265754
resolver
genesymbol
EIF4H
resolver
genesymbol_syn
KIAA0038
resolver
genesymbol_syn
WBSCR1
resolver
genesymbol_syn
WSCR1
resolver
hgnc
HGNC:12741
resolver
uniprot
A8K3R1
resolver
uniprot
D3DXF6
resolver
uniprot
D3DXF8
resolver
uniprot_entry
IF4H_HUMAN
resolver
uniprot_sec
A8K3R1
resolver
uniprot_sec
D3DXF6
resolver
uniprot_sec
D3DXF8
resolver
amino_acid_sequence
MADFDTYDDRAYSSFGGGRGSRGSAGGHGSRSQKELPTEPPYTAYVGNLPFNTVQGDIDAIFKDLSIRSVRLVRDKDTDKFKGFCYVEFDEVDSLKEALTYDGALLGDRSLRVDIAEGRKQDKGGFGFRKGGPDDRGMGSSRESRGGWDSRDDFNSGFRDDFLGGRGGSRPGDRRTGPPMGSRFRDGPPLRGSNMDFREPTEEERAQRPRLQLKPRTVATPLNQVANPNSAIFGGARPREEVVQKEQE
uniprot
proteins
disease_involvement
DISEASE: Note=EIF4H is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of EIF4H may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269|PubMed:8812460}.
uniprot
proteins
function
FUNCTION: Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA. {ECO:0000269|PubMed:10585411, ECO:0000269|PubMed:11418588}.
uniprot
proteins
mass_dalton
27385
uniprot
proteins
pubmed
10585411
uniprot
proteins
pubmed
11003705
uniprot
proteins
pubmed
11418588
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16014927
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7584026
uniprot
proteins
pubmed
8812460
uniprot
proteins
pubmed
9516461
uniprot
proteins
sequence_length
248
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}.
uniprot
proteins