factograf
EN
Sign in

Protein-coding gene in the species Homo sapiens

EIF4H

EIF4H
All data from the card 18
Aliases
EIF4H, WBSCR1, WSCR1, eIF-4H, eukaryotic translation initiation factor 4H
External IDs
OMIM: 603431; MGI: 1341822; GeneCards: EIF4H
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 7 (human)
Band
7q11.23
End
74,197,122 bp
Chr.
Chromosome 5 (mouse)
Band
5 G2|5 74.71 cM
End
134,668,344 bp
BioGPS
n/a
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
7458
Ensembl
ENSG00000106682
UniProt
Q15056
RefSeq (mRNA)
NM_022170NM_031992
RefSeq (protein)
NP_071496NP_114381
Location (UCSC)
Chr 7: 74.17 – 74.2 Mb

Eukaryotic translation initiation factor 4H is a protein that in humans is encoded by the EIF4H gene.

This gene encodes one of the translation initiation factors, which function to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants.

EIF4H appears analogous to drr-2 in C. elegans which regulates the mTOR pathway and affects longevity.

Read next

In 4 languages

Text from Wikipedia, CC BY-SA 4.0 · Source article