InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EIF4H

Summary

InnateDB Protein

IDBP-21010.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EIF4H

Protein Name

eukaryotic translation initiation factor 4H

Synonyms

eIF-4H; WBSCR1; WSCR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000265753

InnateDB Gene

IDBG-21006 (EIF4H)

Protein Structure

UniProt Annotation

Function

Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA. {ECO:0000269PubMed:10585411, ECO:0000269PubMed:11418588}.

Subcellular Localization

Cytoplasm, perinuclear region {ECO:0000250}.

Disease Associations

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.

Tissue Specificity

The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow. Levels are high in lung and pancreas and low in heart, frontal cortex and kidney. {ECO:0000269PubMed:11003705, ECO:0000269PubMed:8812460}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.

Experimentally validated
Total	34 [view]
Protein-Protein	32 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0003743	translation initiation factor activity
GO:0005515	protein binding
GO:0008135	translation factor activity, nucleic acid binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006412	translation
GO:0006413	translational initiation
GO:0006446	regulation of translational initiation
GO:0010467	gene expression
GO:0016032	viral process
GO:0019953	sexual reproduction
GO:0044267	cellular protein metabolic process
GO:0048589	developmental growth