Description: Homo sapiens eukaryotic translation initiation factor 6 (EIF6), transcript variant 4, mRNA. RefSeq Summary (NM_181466): 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]. Transcript (Including UTRs) Position: hg19 chr20:33,866,709-33,872,619 Size: 5,911 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr20:33,867,000-33,872,290 Size: 5,291 Coding Exon Count: 4
ID:B7ZBG9_HUMAN DESCRIPTION: RecName: Full=Eukaryotic translation initiation factor 6; Short=eIF-6; 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. May behave 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 (GNB2L1)-dependent protein kinase C activity (By similarity). SUBUNIT: Monomer. Associates with the 60S ribosomal subunit. Interacts with GNB2L1 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Shuttles between cytoplasm and nucleus/nucleolus (By similarity). PTM: Phosphorylation at Ser-155 and Ser-156 promotes nuclear export (By similarity). SIMILARITY: Belongs to the eIF-6 family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): EIF6 CDC HuGE Published Literature: EIF6 Positive Disease Associations: height
, Iron
, Melanosis Related Studies:
height Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15.
[PubMed 18391951]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on B7ZBG9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
