Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate fila... See more...

Aliases for EIF6 Gene

Aliases for EIF6 Gene

  • Eukaryotic Translation Initiation Factor 6 2 3 4 5
  • B4 Integrin Interactor 3 4
  • P27(BBP) 3 4
  • ITGB4BP 3 4
  • B(2)Gcn 2 3
  • P27BBP 2 3
  • EIF3A 3 4
  • EIF-6 3 4
  • CAB 3 4
  • Eukaryotic Translation Initiation Factor 3A 3
  • P27 Beta-4 Integrin-Binding Protein 3
  • Integrin Beta 4 Binding Protein 2
  • B(2)GCN Homolog 4
  • EIF6 5

External Ids for EIF6 Gene

Previous HGNC Symbols for EIF6 Gene

  • EIF3A
  • ITGB4BP

Previous GeneCards Identifiers for EIF6 Gene

  • GC20M033331
  • GC20M033868
  • GC20M030645
  • GC20M033870
  • GC20M033877
  • GC20M033881
  • GC20M033885

Summaries for EIF6 Gene

Entrez Gene Summary for EIF6 Gene

  • Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for EIF6 Gene

EIF6 (Eukaryotic Translation Initiation Factor 6) is a Protein Coding gene. Diseases associated with EIF6 include Shwachman-Diamond Syndrome 1 and Junctional Epidermolysis Bullosa. Among its related pathways are Ribosome biogenesis in eukaryotes and Translational Control. Gene Ontology (GO) annotations related to this gene include translation initiation factor activity and ribosomal large subunit binding. An important paralog of this gene is ENSG00000261582.

UniProtKB/Swiss-Prot Summary for EIF6 Gene

  • Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity (PubMed:10085284, PubMed:14654845, PubMed:21536732). In tissues responsive to insulin, controls fatty acid synthesis and glycolysis by exerting translational control of adipogenic transcription factors such as CEBPB, CEBPD and ATF4 that have G/C rich or uORF in their 5'UTR. Required for ROS-dependent megakaryocyte maturation and platelets formation, controls the expression of mitochondrial respiratory chain genes involved in reactive oxygen species (ROS) synthesis (By similarity). Involved in miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:17507929). Modulates cell cycle progression and global translation of pre-B cells, its activation seems to be rate-limiting in tumorigenesis and tumor growth (By similarity).

Gene Wiki entry for EIF6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EIF6 Gene

Genomics for EIF6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EIF6 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 EIF6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIF6

Top Transcription factor binding sites by QIAGEN in the EIF6 gene promoter:
  • STAT3

Genomic Locations for EIF6 Gene

Latest Assembly
chr20:35,278,906-35,284,985
(GRCh38/hg38)
Size:
6,080 bases
Orientation:
Minus strand

Previous Assembly
chr20:33,866,709-33,872,575
(GRCh37/hg19 by Entrez Gene)
Size:
5,867 bases
Orientation:
Minus strand

chr20:33,866,714-33,872,788
(GRCh37/hg19 by Ensembl)
Size:
6,075 bases
Orientation:
Minus strand

Genomic View for EIF6 Gene

Genes around EIF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF6 Gene

Proteins for EIF6 Gene

  • Protein details for EIF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56537-IF6_HUMAN
    Recommended name:
    Eukaryotic translation initiation factor 6
    Protein Accession:
    P56537
    Secondary Accessions:
    • B7ZBG9
    • Q6IBN8
    • Q96TD5

    Protein attributes for EIF6 Gene

    Size:
    245 amino acids
    Molecular mass:
    26599 Da
    Quaternary structure:
    • Monomer. Associates with the 60S ribosomal subunit. Interacts with RACK1. Interacts with DICER1, AGO2, TARBP2, MOV10 and RPL7A; they form a large RNA-induced silencing complex (RISC) (PubMed:17507929).

    Three dimensional structures from OCA and Proteopedia for EIF6 Gene

    Alternative splice isoforms for EIF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF6 Gene

Post-translational modifications for EIF6 Gene

No data available for DME Specific Peptides for EIF6 Gene

Domains & Families for EIF6 Gene

Gene Families for EIF6 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EIF6 Gene

InterPro:
Blocks:
  • Translation initiation factor IF6

Suggested Antigen Peptide Sequences for EIF6 Gene

GenScript: Design optimal peptide antigens:
  • p27(BBP) (IF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56537

UniProtKB/Swiss-Prot:

IF6_HUMAN :
  • Belongs to the eIF-6 family.
Family:
  • Belongs to the eIF-6 family.
genes like me logo Genes that share domains with EIF6: view

Function for EIF6 Gene

Molecular function for EIF6 Gene

UniProtKB/Swiss-Prot Function:
Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity (PubMed:10085284, PubMed:14654845, PubMed:21536732). In tissues responsive to insulin, controls fatty acid synthesis and glycolysis by exerting translational control of adipogenic transcription factors such as CEBPB, CEBPD and ATF4 that have G/C rich or uORF in their 5'UTR. Required for ROS-dependent megakaryocyte maturation and platelets formation, controls the expression of mitochondrial respiratory chain genes involved in reactive oxygen species (ROS) synthesis (By similarity). Involved in miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA-mediated cleavage of complementary mRNAs by RISC (PubMed:17507929). Modulates cell cycle progression and global translation of pre-B cells, its activation seems to be rate-limiting in tumorigenesis and tumor growth (By similarity).

Phenotypes From GWAS Catalog for EIF6 Gene

Gene Ontology (GO) - Molecular Function for EIF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 translation initiation factor activity IEA --
GO:0005515 protein binding IPI 17507929
GO:0043022 ribosome binding IEA,IDA 21536732
GO:0043023 ribosomal large subunit binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with EIF6: view
genes like me logo Genes that share phenotypes with EIF6: view

Animal Models for EIF6 Gene

MGI Knock Outs for EIF6:
  • Eif6 Eif6<tm1Sbif>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF6

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EIF6 Gene

Localization for EIF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF6 Gene

Cytoplasm. Nucleus, nucleolus. Note=Shuttles between cytoplasm and nucleus/nucleolus.

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 EIF6 gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
cytoskeleton 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EIF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 12426392
GO:0005638 lamin filament IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IBA 21873635
GO:0005737 cytoplasm IEA,IDA 12426392
genes like me logo Genes that share ontologies with EIF6: view

Pathways & Interactions for EIF6 Gene

genes like me logo Genes that share pathways with EIF6: view

Pathways by source for EIF6 Gene

1 BioSystems pathway for EIF6 Gene
1 KEGG pathway for EIF6 Gene
1 Cell Signaling Technology pathway for EIF6 Gene

SIGNOR curated interactions for EIF6 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for EIF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000054 ribosomal subunit export from nucleus IEA,IBA 21873635
GO:0000460 maturation of 5.8S rRNA IBA 21873635
GO:0000470 maturation of LSU-rRNA IBA 21873635
GO:0006110 regulation of glycolytic process ISS --
GO:0006412 translation IEA --
genes like me logo Genes that share ontologies with EIF6: view

Drugs & Compounds for EIF6 Gene

(4) Drugs for EIF6 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276

(3) Additional Compounds for EIF6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EIF6: view

Transcripts for EIF6 Gene

mRNA/cDNA for EIF6 Gene

6 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
9 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 EIF6

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for EIF6 Gene

No ASD Table

Relevant External Links for EIF6 Gene

GeneLoc Exon Structure for
EIF6

Expression for EIF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EIF6 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF6 Gene



Protein tissue co-expression partners for EIF6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIF6

SOURCE GeneReport for Unigene cluster for EIF6 Gene:

Hs.743992

mRNA Expression by UniProt/SwissProt for EIF6 Gene:

P56537-IF6_HUMAN
Tissue specificity: Expressed at very high levels in colon carcinoma with lower levels in normal colon and ileum and lowest levels in kidney and muscle (at protein level).

Evidence on tissue expression from TISSUES for EIF6 Gene

  • Nervous system(4.9)
  • Lung(4.9)
  • Liver(4.7)
  • Blood(4.6)
  • Muscle(4.5)
  • Skin(4.3)
  • Kidney(3.9)
  • Pancreas(3.8)
  • Eye(3.8)
  • Spleen(3.4)
  • Intestine(3.1)
  • Bone marrow(2.4)
  • Heart(2.1)
  • Bone(2.1)
  • Stomach(2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with EIF6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF6 Gene

Orthologs for EIF6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EIF6 29 30
  • 99.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EIF6 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EIF6 29 30
  • 92.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EIF6 29 30
  • 92.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Eif6 29 16 30
  • 91.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eif6 29
  • 90.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EIF6 30
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EIF6 29 30
  • 81.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EIF6 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eif6 29
  • 77.55 (n)
Str.5852 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398731 29
Zebrafish
(Danio rerio)
Actinopterygii eif6 29 30
  • 75.65 (n)
OneToOne
zgc56562 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.658 29
Fruit Fly
(Drosophila melanogaster)
Insecta eIF6 29 30
  • 72.38 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001380 29
  • 69.25 (n)
Worm
(Caenorhabditis elegans)
Secernentea eif-6 29 30
  • 61.2 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL030C 29
  • 65.58 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIF6 29 30 32 32
  • 61.09 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02046g 29
  • 60.54 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons emb1624 29
  • 65.98 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.791 29
Soybean
(Glycine max)
eudicotyledons Gma.2238 29
Rice
(Oryza sativa)
Liliopsida Os07g0639800 29
  • 67.63 (n)
Os.37651 29
Barley
(Hordeum vulgare)
Liliopsida Hv.3154 29
Wheat
(Triticum aestivum)
Liliopsida Ta.2353 29
Corn
(Zea mays)
Liliopsida Zm.7096 29
Sea Squirt
(Ciona savignyi)
Ascidiacea EIF6 30
  • 83 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU09004 29
  • 65.57 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif6 29
  • 62.7 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10355 29
Species where no ortholog for EIF6 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for EIF6 Gene

ENSEMBL:
Gene Tree for EIF6 (if available)
TreeFam:
Gene Tree for EIF6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIF6: view image
Alliance of Genome Resources:
Additional Orthologs for EIF6

Paralogs for EIF6 Gene

Paralogs for EIF6 Gene

genes like me logo Genes that share paralogs with EIF6: view

Variants for EIF6 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EIF6 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 EIF6 Gene

Variant ID Type Subtype PubMed ID
nsv1059168 CNV loss 25217958
nsv585943 CNV loss 21841781
nsv954029 CNV deletion 24416366

Variation tolerance for EIF6 Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF6
Leiden Open Variation Database (LOVD)
EIF6

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 EIF6 Gene

Disorders for EIF6 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EIF6 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search EIF6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EIF6

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 EIF6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EIF6 Gene

Publications for EIF6 Gene

  1. The human ITGB4BP gene is constitutively expressed in vitro, but highly modulated in vivo. (PMID: 11290417) Donadini A … Biffo S (Gene 2001) 3 4 22
  2. Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells. (PMID: 9374518) Biffo S … Marchisio PC (The Journal of biological chemistry 1997) 2 3 4
  3. Molecular cloning and functional expression of a human cDNA encoding translation initiation factor 6. (PMID: 9405604) Si K … Maitra U (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22
  4. Opposing action of casein kinase 1 and calcineurin in nucleo-cytoplasmic shuttling of mammalian translation initiation factor eIF6. (PMID: 21084295) Biswas A … Maitra U (The Journal of biological chemistry 2011) 3 4
  5. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. (PMID: 21536732) Finch AJ … Warren AJ (Genes & development 2011) 3 4

Products for EIF6 Gene

Sources for EIF6 Gene