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Aliases for EIF6 Gene

Aliases for EIF6 Gene

  • Eukaryotic Translation Initiation Factor 6 2 3 5
  • B4 Integrin Interactor 3 4
  • P27(BBP) 3 4
  • ITGB4BP 3 4
  • 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
  • B(2)Gcn 3
  • P27BBP 3

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. Among its related pathways are Ribosome biogenesis in eukaryotes and Translational Control. 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 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 5UTR. 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 , fRNAdb sequence ontologies and piRNA Summary for EIF6 Gene

Genomics for EIF6 Gene

Regulatory Elements for EIF6 Gene

Enhancers for EIF6 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
GH20G035283 1.4 ENCODE dbSUPER 31.7 -0.2 -195 3.9 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 EIF6 FAM83C-AS1
GH20G035317 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 19.2 -34.8 -34764 5.1 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 FEZF1 YY1 SLC30A9 FOS UQCC1 NCOA6 EIF6 FAM83C MMP24 FAM83C-AS1 MMP24-AS1 EDEM2 RBM12 MIR499A
GH20G035739 3.1 FANTOM5 Ensembl ENCODE dbSUPER 13.4 -456.7 -456739 7.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 CPNE1 RBM12 PHF20 RBM39 EIF6 AAR2 TRPC4AP RPL36P4 SPAG4 SCAND1
GH20G035275 1.2 ENCODE dbSUPER 33.6 +6.7 6676 5.0 HDGF ATF1 AGO1 SIN3A ZNF48 ETS1 GLIS2 ZNF143 KLF7 DEK EIF6 MMP24-AS1 FAM83C GC20M035279
GH20G035874 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -590.5 -590533 2.6 PKNOX1 FOXA2 ATF1 ARNT SIN3A FEZF1 BRCA1 ZNF2 GTF3C2 KLF7 CPNE1 RBM12 RPL36P4 TRPC4AP NFS1 EIF6 RBM39 AAR2 PHF20 ROMO1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EIF6 on UCSC Golden Path with GeneCards custom track

Promoters for EIF6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136534 485 1401 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

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

Genomic Location for EIF6 Gene

Chromosome:
20
Start:
35,278,906 bp from pter
End:
35,284,985 bp from pter
Size:
6,080 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).

    Alternative splice isoforms for EIF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF6 Gene

Post-translational modifications for EIF6 Gene

  • Phosphorylation at Ser-174 and Ser-175 by CSNK1D/CK1 promotes nuclear export.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EIF6 Gene

Domains & Families for EIF6 Gene

Protein Domains for EIF6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EIF6 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for EIF6 Gene

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 5UTR. 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 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 IDA 21536732
GO:0043023 ribosomal large subunit binding IBA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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
extracellular 5
nucleus 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EIF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 12426392
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IBA,IEA --
GO:0005737 cytoplasm IDA,IEA 12426392
GO:0005829 cytosol IBA --
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 Cell Signaling Technology pathway for EIF6 Gene
1 BioSystems pathway for EIF6 Gene
1 KEGG 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 IBA --
GO:0000460 maturation of 5.8S rRNA IBA --
GO:0000470 maturation of LSU-rRNA IBA --
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

(3) Drugs for EIF6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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

Unigene Clusters for EIF6 Gene

Eukaryotic translation initiation factor 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for EIF6 Gene

GeneLoc Exon Structure for
EIF6
ECgene alternative splicing isoforms for
EIF6

Expression for EIF6 Gene

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

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



Protein tissue co-expression partners for EIF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF6 Gene:

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(4.8)
  • Liver(4.6)
  • Blood(4.5)
  • Muscle(4.3)
  • Skin(4.2)
  • Eye(3.8)
  • Kidney(3.6)
  • Pancreas(3.6)
  • Spleen(3.4)
  • Intestine(2.6)
genes like me logo Genes that share expression patterns with EIF6: view

Primer Products

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 34 35
  • 99.46 (n)
oppossum
(Monodelphis domestica)
Mammalia EIF6 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF6 34 35
  • 92.65 (n)
cow
(Bos Taurus)
Mammalia EIF6 35 34
  • 92.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Eif6 34 16 35
  • 91.29 (n)
rat
(Rattus norvegicus)
Mammalia Eif6 34
  • 90.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EIF6 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF6 35 34
  • 81.15 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF6 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif6 34
  • 77.55 (n)
Str.5852 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398731 34
zebrafish
(Danio rerio)
Actinopterygii eif6 34 35
  • 75.65 (n)
zgc56562 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.658 34
fruit fly
(Drosophila melanogaster)
Insecta eIF6 34 35
  • 72.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001380 34
  • 69.25 (n)
worm
(Caenorhabditis elegans)
Secernentea eif-6 34 35
  • 61.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL030C 34
  • 65.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIF6 35 37 34
  • 61.09 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02046g 34
  • 60.54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1624 34
  • 65.98 (n)
soybean
(Glycine max)
eudicotyledons Gma.2238 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.791 34
rice
(Oryza sativa)
Liliopsida Os07g0639800 34
  • 67.63 (n)
Os.37651 34
barley
(Hordeum vulgare)
Liliopsida Hv.3154 34
wheat
(Triticum aestivum)
Liliopsida Ta.2353 34
corn
(Zea mays)
Liliopsida Zm.7096 34
sea squirt
(Ciona savignyi)
Ascidiacea EIF6 35
  • 83 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09004 34
  • 65.57 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif6 34
  • 62.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10355 34
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)

Paralogs for EIF6 Gene

Paralogs for EIF6 Gene

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

Variants for EIF6 Gene

Sequence variations from dbSNP and Humsavar for EIF6 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000150706 -- 35,286,300(+) CTCTA(C/T)AGGCC upstream-variant-2KB, utr-variant-3-prime
rs1000306727 -- 35,280,587(+) TTGGG(A/G)AAGAA intron-variant
rs1000739399 -- 35,283,328(+) CCAAC(A/G)ACCAG intron-variant, upstream-variant-2KB
rs1001906807 -- 35,283,032(+) CACGC(C/T)TGTAA intron-variant
rs1001977192 -- 35,282,040(+) CTGGA(-/G)TGCAG intron-variant

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)

Relevant External Links for EIF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF6 Gene

Disorders for EIF6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EIF6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • pancreatic insufficiency and bone marrow dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search EIF6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EIF6

Genetic Association Database (GAD)
EIF6
Human Genome Epidemiology (HuGE) Navigator
EIF6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF6
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 64
  2. Isolation of a novel beta4 integrin-binding protein (p27(BBP)) highly expressed in epithelial cells. (PMID: 9374518) Biffo S. … Marchisio P.C. (J. Biol. Chem. 1997) 2 3 4 64
  3. Molecular cloning and functional expression of a human cDNA encoding translation initiation factor 6. (PMID: 9405604) Si K. … Maitra U. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 22 64
  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. (J. Biol. Chem. 2011) 3 4 64
  5. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. (PMID: 21536732) Finch A.J. … Warren A.J. (Genes Dev. 2011) 3 4 64

Products for EIF6 Gene

Sources for EIF6 Gene

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