• Gene id: 7458

Gene Summary

• Gene Symbol: EIF4H   Gene   UCSC   Ensembl
• Aliases: WBSCR1, WSCR1, eIF-4H
• Gene name: eukaryotic translation initiation factor 4H
• Alternate names: eukaryotic translation initiation factor 4H, Williams-Beuren syndrome chromosome region 1,
• Gene location: 7q11.23 (74174355: 74197095)     Exons: 7     NC_000007.14
• Gene summary(Entrez): 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 d
• OMIM: 132810

Protein Summary

• Protein general information: Q15056  
  • Name: Eukaryotic translation initiation factor 4H (eIF 4H) (Williams Beuren syndrome chromosomal region 1 protein)
  • Length: 248  
  • Mass: 27385
  • 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
• Sequence:

  MADFDTYDDRAYSSFGGGRGSRGSAGGHGSRSQKELPTEPPYTAYVGNLPFNTVQGDIDAIFKDLSIRSVRLVRD
  KDTDKFKGFCYVEFDEVDSLKEALTYDGALLGDRSLRVDIAEGRKQDKGGFGFRKGGPDDRGMGSSRESRGGWDS
  RDDFNSGFRDDFLGGRGGSRPGDRRTGPPMGSRFRDGPPLRGSNMDFREPTEEERAQRPRLQLKPRTVATPLNQV
  ANPNSAIFGGARPREEVVQKEQE

• Structural information:
  • Protein Domains: (42..11-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034229  IPR012677  IPR035979  IPR000504  
  • Prosite: PS50102
  • CDD: cd12401
  • STRING: ENSP00000265753
• Other Databases: GeneCards:  EIF4H  Malacards:  EIF4H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005844	polysome	IBA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003743	translation initiation factor activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006413	translational initiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0003743	translation initiation factor activity	TAS	molecular function
GO:0008135	translation factor activity, RNA binding	TAS	molecular function
GO:0016281	eukaryotic translation initiation factor 4F complex	TAS	cellular component
GO:0006446	regulation of translational initiation	TAS	biological process
GO:0006413	translational initiation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019953	sexual reproduction	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	PMID:8812460
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray