Human Gene EIF6 (ENST00000374450.8_7) from GENCODE V47lift37
  Description: eukaryotic translation initiation factor 6, transcript variant 8 (from RefSeq NR_052023.2)
Gencode Transcript: ENST00000374450.8_7
Gencode Gene: ENSG00000242372.9_11
Transcript (Including UTRs)
   Position: hg19 chr20:33,866,721-33,872,575 Size: 5,855 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr20:33,867,000-33,872,290 Size: 5,291 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:33,866,721-33,872,575)mRNA (may differ from genome)Protein (245 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IF6_HUMAN
DESCRIPTION: RecName: Full=Eukaryotic translation initiation factor 6; Short=eIF-6; AltName: Full=B(2)GCN homolog; AltName: Full=B4 integrin interactor; AltName: Full=CAB; AltName: Full=p27(BBP);
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.
SUBUNIT: Monomer. Associates with the 60S ribosomal subunit. Interacts with GNB2L1.
INTERACTION: Q96C10:DHX58; NbExp=2; IntAct=EBI-372243, EBI-744193; P19525:EIF2AK2; NbExp=2; IntAct=EBI-372243, EBI-640775; Q9Y6K5:OAS3; NbExp=2; IntAct=EBI-372243, EBI-6115729; P68404:Prkcb (xeno); NbExp=2; IntAct=EBI-372243, EBI-397048;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Shuttles between cytoplasm and nucleus/nucleolus.
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).
PTM: Phosphorylation at Ser-174 and Ser-175 by CSNK1D/CK1 promotes nuclear export.
SIMILARITY: Belongs to the eIF-6 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EIF6
Diseases sorted by gene-association score: shwachman-diamond syndrome (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 100.48 RPKM in Esophagus - Mucosa
Total median expression: 2018.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.3052-0.256 Picture PostScript Text
3' UTR -101.40279-0.363 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002769 - eIF6

Pfam Domains:
PF01912 - eIF-6 family

SCOP Domains:
55909 - Pentein

ModBase Predicted Comparative 3D Structure on P56537
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003743 translation initiation factor activity
GO:0005515 protein binding
GO:0043022 ribosome binding
GO:0043023 ribosomal large subunit binding

Biological Process:
GO:0000054 ribosomal subunit export from nucleus
GO:0000460 maturation of 5.8S rRNA
GO:0000470 maturation of LSU-rRNA
GO:0006110 regulation of glycolytic process
GO:0006412 translation
GO:0006413 translational initiation
GO:0032868 response to insulin
GO:0035195 gene silencing by miRNA
GO:0035278 miRNA mediated inhibition of translation
GO:0042254 ribosome biogenesis
GO:0042256 mature ribosome assembly
GO:0042304 regulation of fatty acid biosynthetic process
GO:0045652 regulation of megakaryocyte differentiation
GO:0045727 positive regulation of translation
GO:1902626 assembly of large subunit precursor of preribosome
GO:2000377 regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030687 preribosome, large subunit precursor
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC011845 - Homo sapiens eukaryotic translation initiation factor 6, mRNA (cDNA clone MGC:20289 IMAGE:4120463), complete cds.
AK296076 - Homo sapiens cDNA FLJ51217 complete cds, highly similar to Homo sapiens integrin beta 4 binding protein (ITGB4BP), transcript variant 3, mRNA.
AF401207 - Homo sapiens integrin beta 4 binding protein (ITGB4BP) mRNA, 3' untranslated region.
BC039466 - Homo sapiens mRNA similar to integrin beta 4 binding protein (cDNA clone IMAGE:3902946).
AF022229 - Homo sapiens translation initiation factor 6 (eIF6) mRNA, complete cds.
AB062289 - Homo sapiens OK/SW-cl.27 mRNA for integrin beta 4 binding protein, complete cds.
BC019305 - Homo sapiens eukaryotic translation initiation factor 6, mRNA (cDNA clone MGC:4200 IMAGE:2823211), complete cds.
Y11435 - H.sapiens mRNA for b4 integrin interactor.
BC095465 - Homo sapiens eukaryotic translation initiation factor 6, mRNA (cDNA clone IMAGE:30559307).
BC001119 - Homo sapiens eukaryotic translation initiation factor 6, mRNA (cDNA clone MGC:1959 IMAGE:2989973), complete cds.
AF047433 - Homo sapiens b(2)gcn homolog mRNA, complete cds.
JD479525 - Sequence 460549 from Patent EP1572962.
JD466025 - Sequence 447049 from Patent EP1572962.
JD059412 - Sequence 40436 from Patent EP1572962.
AK314969 - Homo sapiens cDNA, FLJ95885, Homo sapiens integrin beta 4 binding protein (ITGB4BP), mRNA.
CR456764 - Homo sapiens full open reading frame cDNA clone RZPDo834D044D for gene ITGB4BP, integrin beta 4 binding protein; complete cds, incl. stopcodon.
AB463619 - Synthetic construct DNA, clone: pF1KB8246, Homo sapiens EIF6 gene for eukaryotic translation initiation factor 6, without stop codon, in Flexi system.
DQ892592 - Synthetic construct clone IMAGE:100005222; FLH187886.01X; RZPDo839E02150D integrin beta 4 binding protein (ITGB4BP) gene, encodes complete protein.
KJ897071 - Synthetic construct Homo sapiens clone ccsbBroadEn_06465 EIF6 gene, encodes complete protein.
DQ895811 - Synthetic construct Homo sapiens clone IMAGE:100010271; FLH187882.01L; RZPDo839E02149D integrin beta 4 binding protein (ITGB4BP) gene, encodes complete protein.
JD175446 - Sequence 156470 from Patent EP1572962.
JD450999 - Sequence 432023 from Patent EP1572962.
JD291253 - Sequence 272277 from Patent EP1572962.
JD221715 - Sequence 202739 from Patent EP1572962.
JD162719 - Sequence 143743 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_eifPathway - Eukaryotic protein translation

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZBG9, EIF3A, EIF6 , ENST00000374450.1, ENST00000374450.2, ENST00000374450.3, ENST00000374450.4, ENST00000374450.5, ENST00000374450.6, ENST00000374450.7, IF6_HUMAN, ITGB4BP , NR_052023, OK/SW-cl.27, P56537, Q6IBN8, Q96TD5, uc318lpc.1, uc318lpc.2
UCSC ID: ENST00000374450.8_7
RefSeq Accession: NM_002212.4
Protein: P56537 (aka IF6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.