EIF4H - eukaryotic translation initiation factor 4H Gene

Homo sapiens

Also known as WSCR1; WBSCR1; eIF-4H

Gene ID: 7458 | Gene type: protein coding

About EIF4H

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,174,356-74,197,096 (from NCBI)

This gene has 14 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 113.5), placenta (RPKM 104.0) and 25 other tissues.

Summary

This gene encodes one of the translation initiation factors, which functions 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. [provided by RefSeq, Jul 2008]

EIF4H Products(2)

mRNA	Protein	Name
NM_022170.2	NP_071496.1	eukaryotic translation initiation factor 4H isoform 1
NM_031992.2	NP_114381.1	eukaryotic translation initiation factor 4H isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EIF4H Protein Structure

RRM_1

0
100
200
248 a.a.

Protein Preferred Names

Protein Names

eukaryotic translation initiation factor 4H

Williams-Beuren syndrome chromosome region 1

EIF4H Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EIF4H	Q15056	C11orf68	Homo sapiens	Q9H3H3	Y2H Pooling	16189514
Intra	EIF4H	Q15056	C11orf68	Homo sapiens	Q9H3H3	Y2H Array	25416956
Intra	EIF4H	Q15056	C11orf68	Homo sapiens	Q9H3H3	Y2H Prey Pooling	25416956
Intra	EIF4H	Q15056	EIF4A1	Homo sapiens	P60842	NMR	19203580
Intra	EIF4H	Q15056	EIF4A1	Homo sapiens	P60842	GMS	19203580
Intra	EIF4H	Q15056	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Valproate Embryopathy

Fetal Valproate Syndrome	Fetal Valproic Acid Syndrome
Fvs	Valproic Acid Embryopathy
Fetal Valproate Spectrum Disorder	Valproate Embryopathy, Susceptibility To
Foetal Valproate Syndrome	Foetal Valproic Acid Syndrome
Susceptibility To Valproate Embryopathy	Valproic Acid Antenatal Infection

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04284	EIF4H Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EIF4H	VGNC	VGNC:80568
Mus musculus	EIF4H	MGD	MGI:1341822
Macaca mulatta	EIF4H	VGNC	VGNC:103811
Rattus norvegicus	EIF4H	RGD	RGD:1359222
Canis familiaris	EIF4H	VGNC	VGNC:40291
Bos taurus	EIF4H	VGNC	VGNC:97266

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