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 RefSe... See more...

Aliases for EIF4H Gene

Aliases for EIF4H Gene

  • Eukaryotic Translation Initiation Factor 4H 2 3 4 5
  • WSCR1 2 3 4
  • Williams-Beuren Syndrome Chromosome Region 1 2 3
  • KIAA0038 2 4
  • WBSCR1 3 4
  • EIF-4H 3 4
  • Williams-Beuren Syndrome Chromosomal Region 1 Protein 4
  • EIF4H 5

External Ids for EIF4H Gene

Previous HGNC Symbols for EIF4H Gene

  • WBSCR1

Previous GeneCards Identifiers for EIF4H Gene

  • GC07P073227
  • GC07P073588
  • GC07P069470

Summaries for EIF4H Gene

Entrez Gene Summary for EIF4H Gene

  • 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]

GeneCards Summary for EIF4H Gene

EIF4H (Eukaryotic Translation Initiation Factor 4H) is a Protein Coding gene. Diseases associated with EIF4H include Williams-Beuren Syndrome and Valproate Embryopathy. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is EIF4B.

UniProtKB/Swiss-Prot Summary for EIF4H Gene

  • Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Gene Wiki entry for EIF4H Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EIF4H Gene

Genomics for EIF4H Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EIF4H Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF4H on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIF4H

Top Transcription factor binding sites by QIAGEN in the EIF4H gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • GR
  • GR-alpha
  • GR-beta
  • MEF-2A
  • Roaz
  • TGIF
  • YY1

Genomic Locations for EIF4H Gene

Latest Assembly
chr7:74,174,231-74,197,122
(GRCh38/hg38)
Size:
22,892 bases
Orientation:
Plus strand

Previous Assembly
chr7:73,588,686-73,611,426
(GRCh37/hg19 by Entrez Gene)
Size:
22,741 bases
Orientation:
Plus strand

chr7:73,588,575-73,611,431
(GRCh37/hg19 by Ensembl)
Size:
22,857 bases
Orientation:
Plus strand

Genomic View for EIF4H Gene

Genes around EIF4H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF4H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF4H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF4H Gene

Proteins for EIF4H Gene

  • Protein details for EIF4H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15056-IF4H_HUMAN
    Recommended name:
    Eukaryotic translation initiation factor 4H
    Protein Accession:
    Q15056
    Secondary Accessions:
    • A8K3R1
    • D3DXF6
    • D3DXF8

    Protein attributes for EIF4H Gene

    Size:
    248 amino acids
    Molecular mass:
    27385 Da
    Quaternary structure:
    • (Microbial infection) Interacts with HHV-1 Vhs.
    SequenceCaution:
    • Sequence=BAA05063.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EIF4H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF4H Gene

Post-translational modifications for EIF4H Gene

  • Ubiquitination at Lys245
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for EIF4H
  • Santa Cruz Biotechnology (SCBT) Antibodies for EIF4H

No data available for DME Specific Peptides for EIF4H Gene

Domains & Families for EIF4H Gene

Gene Families for EIF4H Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EIF4H Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)

Suggested Antigen Peptide Sequences for EIF4H Gene

GenScript: Design optimal peptide antigens:
  • Williams-Beuren syndrome chromosomal region 1 protein (IF4H_HUMAN)
genes like me logo Genes that share domains with EIF4H: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EIF4H Gene

Function for EIF4H Gene

Molecular function for EIF4H Gene

UniProtKB/Swiss-Prot Function:
Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Phenotypes From GWAS Catalog for EIF4H Gene

Gene Ontology (GO) - Molecular Function for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding TAS,HDA 22658674
GO:0003743 translation initiation factor activity TAS,IEA --
GO:0005515 protein binding IPI 16189514
GO:0008135 translation factor activity, RNA binding TAS 9516461
genes like me logo Genes that share ontologies with EIF4H: view
genes like me logo Genes that share phenotypes with EIF4H: view

Animal Models for EIF4H Gene

MGI Knock Outs for EIF4H:
  • Eif4h Eif4h<tm1b(EUCOMM)Wtsi>

miRNA for EIF4H Gene

miRTarBase miRNAs that target EIF4H

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF4H

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EIF4H Gene

Localization for EIF4H Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF4H Gene

Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIF4H gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0016281 eukaryotic translation initiation factor 4F complex TAS 9516461
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with EIF4H: view

Pathways & Interactions for EIF4H Gene

genes like me logo Genes that share pathways with EIF4H: view

Pathways by source for EIF4H Gene

2 GeneGo (Thomson Reuters) pathways for EIF4H Gene
  • Translation Regulation of EIF4F activity
  • Translation Insulin regulation of translation
1 Cell Signaling Technology pathway for EIF4H Gene

SIGNOR curated interactions for EIF4H Gene

Activates:

Gene Ontology (GO) - Biological Process for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001731 formation of translation preinitiation complex IBA 21873635
GO:0006412 translation IEA --
GO:0006413 translational initiation TAS --
GO:0006446 regulation of translational initiation TAS 9516461
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with EIF4H: view

Drugs & Compounds for EIF4H Gene

(1) Drugs for EIF4H Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EIF4H: view

Transcripts for EIF4H Gene

mRNA/cDNA for EIF4H Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF4H

Alternative Splicing Database (ASD) splice patterns (SP) for EIF4H Gene

No ASD Table

Relevant External Links for EIF4H Gene

GeneLoc Exon Structure for
EIF4H

Expression for EIF4H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EIF4H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF4H Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.6) and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF4H Gene



Protein tissue co-expression partners for EIF4H Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIF4H

SOURCE GeneReport for Unigene cluster for EIF4H Gene:

Hs.520943

mRNA Expression by UniProt/SwissProt for EIF4H Gene:

Q15056-IF4H_HUMAN
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.

Evidence on tissue expression from TISSUES for EIF4H Gene

  • Nervous system(4.9)
  • Muscle(4.7)
  • Liver(4.5)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Skin(4.4)
  • Lung(4.2)
  • Eye(4.1)
  • Intestine(3.7)
  • Pancreas(3.5)
  • Kidney(3)
  • Heart(2.5)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with EIF4H: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF4H Gene

Orthologs for EIF4H Gene

This gene was present in the common ancestor of animals.

Orthologs for EIF4H Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EIF4H 29 30
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WBSCR1 30
  • 99 (a)
OneToOne
EIF4H 29
  • 93.57 (n)
Dog
(Canis familiaris)
Mammalia EIF4H 29 30
  • 94.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Eif4h 29 16 30
  • 91.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eif4h 29
  • 90.73 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia oan-mir-590 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EIF4H 30
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EIF4H 30
  • 87 (a)
OneToOne
LOC100859865 29
  • 82.51 (n)
Lizard
(Anolis carolinensis)
Reptilia EIF4H 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eif4h 29
  • 74.45 (n)
Str.6613 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68480 29
Zebrafish
(Danio rerio)
Actinopterygii eif4h 29 30
  • 71.13 (n)
OneToOne
Dr.7659 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4178 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rbp2 30
  • 27 (a)
OneToMany
CG1340 30
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8871 30
  • 18 (a)
OneToOne
Species where no ortholog for EIF4H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EIF4H Gene

ENSEMBL:
Gene Tree for EIF4H (if available)
TreeFam:
Gene Tree for EIF4H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIF4H: view image
Alliance of Genome Resources:
Additional Orthologs for EIF4H

Paralogs for EIF4H Gene

Paralogs for EIF4H Gene

(2) SIMAP similar genes for EIF4H Gene using alignment to 1 proteins:

  • IF4H_HUMAN

Pseudogenes.org Pseudogenes for EIF4H Gene

genes like me logo Genes that share paralogs with EIF4H: view

Variants for EIF4H Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EIF4H Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EIF4H Gene

Variant ID Type Subtype PubMed ID
esv3576379 CNV gain 25503493
esv3613698 CNV loss 21293372
esv3613703 CNV loss 21293372
nsv464563 CNV gain 19166990
nsv607480 CNV gain 21841781
nsv607481 CNV loss 21841781
nsv831030 CNV gain 17160897

Variation tolerance for EIF4H Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF4H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF4H
Leiden Open Variation Database (LOVD)
EIF4H

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EIF4H Gene

Disorders for EIF4H Gene

MalaCards: The human disease database

(3) MalaCards diseases for EIF4H Gene - From: COP and GCD

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
valproate embryopathy
  • valproate embryopathy, susceptibility to
dubowitz syndrome
  • dubowitz's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search EIF4H in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IF4H_HUMAN
  • 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}.

Additional Disease Information for EIF4H

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EIF4H: view

No data available for Genatlas for EIF4H Gene

Publications for EIF4H Gene

  1. Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H. (PMID: 9516461) Richter-Cook NJ … Merrick WC (The Journal of biological chemistry 1998) 2 3 4 22
  2. Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F. (PMID: 11418588) Rogers GW … Merrick WC (The Journal of biological chemistry 2001) 3 4 22
  3. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. (PMID: 11003705) Martindale DW … Koop BF (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 3 4 22
  4. Further biochemical and kinetic characterization of human eukaryotic initiation factor 4H. (PMID: 10585411) Richter NJ … Merrick WC (The Journal of biological chemistry 1999) 3 4 22
  5. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 40

Products for EIF4H Gene

Sources for EIF4H Gene