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Aliases for EIF4H Gene

Aliases for EIF4H Gene

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

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. Among its related pathways are Viral mRNA Translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is EIF4B.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for EIF4H Gene

Genomics for EIF4H Gene

Regulatory Elements for EIF4H Gene

Enhancers for EIF4H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G074214 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.7 +42.6 42622 4.0 ATF1 PKNOX1 WRNIP1 ZFP64 ARID4B YBX1 ZNF121 ZNF143 ZNF623 TBX21 LAT2 MIR590 BAZ1B FKBP6 BUD23 EIF4H GC07P074231
GH07G074208 1.7 FANTOM5 ENCODE dbSUPER 8.3 +36.7 36721 4.5 HDGF HNRNPUL1 FOXA2 CREB3L1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 LAT2 METTL27 BAZ1B EIF4H RFC2 LIMK1 GC07P074231
GH07G075153 1.1 Ensembl ENCODE 5.5 +981.8 981816 4.5 HDAC1 ELF3 PTBP1 ARID4B BMI1 ZBTB40 RARA SP3 ELF4 ELF1 TRIM73 EIF4H NCF1C GC07P075127
GH07G074171 1.1 ENCODE 5.3 +0.6 604 6.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 LIMK1 RFC2 ABHD11-AS1 POM121B MIR590 EIF4H LAT2 GC07M074172 GC07P074192
GH07G074166 0.6 ENCODE 4.7 -6.7 -6707 1.2 HDAC1 KLF1 PKNOX1 HLF KLF4 ZNF121 GATA2 FOS FOXP2 LIMK1 EIF4H GC07P074167
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EIF4H on UCSC Golden Path with GeneCards custom track

Promoters for EIF4H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213584 455 2201 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for EIF4H Gene

Chromosome:
7
Start:
74,174,245 bp from pter
End:
74,197,101 bp from pter
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:
    • 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

Other Protein References for EIF4H Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EIF4H (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

Suggested Antigen Peptide Sequences for EIF4H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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.

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 IDA,TAS 22658674
GO:0003743 translation initiation factor activity TAS,IBA --
GO:0004386 helicase activity TAS --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EIF4H: view
genes like me logo Genes that share phenotypes with EIF4H: view

Animal Model Products

CRISPR Products

miRNA for EIF4H Gene

miRTarBase miRNAs that target EIF4H

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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

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:0005844 polysome IBA --
GO:0016020 membrane IDA 19946888
GO:0016281 eukaryotic translation initiation factor 4F complex TAS 9516461
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

Gene Ontology (GO) - Biological Process for EIF4H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001731 formation of translation preinitiation complex IBA --
GO:0002181 cytoplasmic translation IBA --
GO:0006412 translation IEA --
GO:0006413 translational initiation TAS --
GO:0006446 regulation of translational initiation TAS 9516461
genes like me logo Genes that share ontologies with EIF4H: view

No data available for SIGNOR curated interactions for EIF4H Gene

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

Unigene Clusters for EIF4H Gene

Eukaryotic translation initiation factor 4H:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for EIF4H Gene

GeneLoc Exon Structure for
EIF4H
ECgene alternative splicing isoforms for
EIF4H

Expression for EIF4H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for EIF4H Gene



Protein tissue co-expression partners for EIF4H Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF4H Gene:

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(4.6)
  • Bone marrow(4.4)
  • Liver(4.4)
  • Blood(4.3)
  • Lung(4.2)
  • Skin(4.2)
  • Eye(4.1)
  • Pancreas(3.5)
  • Intestine(3.4)
  • Kidney(2.4)
  • Heart(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with EIF4H: view

Primer Products

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 34 35
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia WBSCR1 35
  • 99 (a)
OneToOne
EIF4H 34
  • 93.57 (n)
dog
(Canis familiaris)
Mammalia EIF4H 34 35
  • 94.15 (n)
mouse
(Mus musculus)
Mammalia Eif4h 34 16 35
  • 91.26 (n)
rat
(Rattus norvegicus)
Mammalia Eif4h 34
  • 90.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia oan-mir-590 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EIF4H 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF4H 35
  • 87 (a)
OneToOne
LOC100859865 34
  • 82.51 (n)
lizard
(Anolis carolinensis)
Reptilia EIF4H 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif4h 34
  • 74.45 (n)
Str.6613 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68480 34
zebrafish
(Danio rerio)
Actinopterygii eif4h 35 34
  • 71.13 (n)
OneToOne
Dr.7659 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4178 34
fruit fly
(Drosophila melanogaster)
Insecta Rbp2 35
  • 27 (a)
OneToMany
CG1340 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8871 35
  • 18 (a)
OneToOne
Species where no ortholog for EIF4H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for EIF4H Gene

Paralogs for EIF4H Gene

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

Pseudogenes.org Pseudogenes for EIF4H Gene

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

Variants for EIF4H Gene

Sequence variations from dbSNP and Humsavar for EIF4H Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000329975 -- 74,174,741(+) CGAGC(C/G)CCCGC intron-variant
rs1000615236 -- 74,175,858(+) TGTGG(A/G)GATTT intron-variant
rs1000680264 -- 74,174,618(+) GGGCG(A/G)CGGCG intron-variant
rs1000813234 -- 74,180,643(+) AAGGC(A/G)TCAGC intron-variant
rs1000867435 -- 74,180,315(+) AGCTA(A/G)TTCAG intron-variant

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)

Relevant External Links for EIF4H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF4H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF4H Gene

Disorders for EIF4H Gene

MalaCards: The human disease database

(1) MalaCards diseases for EIF4H Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger 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}.

Relevant External Links for EIF4H

Genetic Association Database (GAD)
EIF4H
Human Genome Epidemiology (HuGE) Navigator
EIF4H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF4H
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 N.J. … Merrick W.C. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F. (PMID: 11418588) Rogers G.W. Jr. … Merrick W.C. (J. Biol. Chem. 2001) 3 4 22 64
  3. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. (PMID: 11003705) Martindale D.W. … Koop B.F. (Mamm. Genome 2000) 3 4 22 64
  4. Further biochemical and kinetic characterization of human eukaryotic initiation factor 4H. (PMID: 10585411) Richter N.J. … Merrick W.C. (J. Biol. Chem. 1999) 3 4 22 64
  5. Detecting rare variants for complex traits using family and unrelated data. (PMID: 19847924) Zhu X. … Elston R.C. (Genet. Epidemiol. 2010) 3 46 64

Products for EIF4H Gene

Sources for EIF4H Gene

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