ID:IF4H_HUMAN DESCRIPTION: RecName: Full=Eukaryotic translation initiation factor 4H; Short=eIF-4H; AltName: Full=Williams-Beuren syndrome chromosomal region 1 protein; FUNCTION: Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA. SUBUNIT: Interacts with HHV-1 Vhs. INTERACTION: P60842:EIF4A1; NbExp=2; IntAct=EBI-748492, EBI-73449; SUBCELLULAR LOCATION: Cytoplasm, perinuclear region (By similarity). 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. DISEASE: 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. SIMILARITY: Contains 1 RRM (RNA recognition motif) domain. SEQUENCE CAUTION: Sequence=BAA05063.1; Type=Erroneous initiation;
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 Q15056
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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.
AK314749 - Homo sapiens cDNA, FLJ95613. AK297651 - Homo sapiens cDNA FLJ60708 complete cds, highly similar to Eukaryotic translation initiation factor 4H. AK290676 - Homo sapiens cDNA FLJ75661 complete cds, highly similar to Homo sapiens Williams-Beuren syndrome chromosome region 1 (WBSCR1), transcript variant 2, mRNA. BC066928 - Homo sapiens eukaryotic translation initiation factor 4H, mRNA (cDNA clone MGC:87218 IMAGE:5263716), complete cds. D26068 - Homo sapiens KIAA0038 mRNA. BC021214 - Homo sapiens eukaryotic translation initiation factor 4H, mRNA (cDNA clone MGC:12890 IMAGE:4139578), complete cds. BC010021 - Homo sapiens eukaryotic translation initiation factor 4H, mRNA (cDNA clone MGC:19645 IMAGE:2960402), complete cds. AB385268 - Synthetic construct DNA, clone: pF1KA0038, Homo sapiens EIF4H gene for eukaryotic translation initiation factor 4H, complete cds, without stop codon, in Flexi system. DQ891924 - Synthetic construct Homo sapiens clone IMAGE:100004554; FLH263564.01X; RZPDo839D08136D Williams-Beuren syndrome chromosome region 1 (WBSCR1) gene, encodes complete protein. DQ895111 - Synthetic construct Homo sapiens clone IMAGE:100009571; FLH181471.01L; RZPDo839D10135D Williams-Beuren syndrome chromosome region 1 (WBSCR1) gene, encodes complete protein. DQ895112 - Synthetic construct Homo sapiens clone IMAGE:100009572; FLH263610.01L; RZPDo839D11135D Williams-Beuren syndrome chromosome region 1 (WBSCR1) gene, encodes complete protein. KJ892381 - Synthetic construct Homo sapiens clone ccsbBroadEn_01775 EIF4H gene, encodes complete protein. DQ579570 - Homo sapiens piRNA piR-47682, complete sequence. JD372692 - Sequence 353716 from Patent EP1572962. JD459252 - Sequence 440276 from Patent EP1572962. JD113634 - Sequence 94658 from Patent EP1572962. JD254186 - Sequence 235210 from Patent EP1572962. JD176947 - Sequence 157971 from Patent EP1572962. JD538419 - Sequence 519443 from Patent EP1572962. BC023534 - Homo sapiens cDNA clone IMAGE:4122532, **** WARNING: chimeric clone ****. JD551587 - Sequence 532611 from Patent EP1572962. JD149660 - Sequence 130684 from Patent EP1572962. JD113436 - Sequence 94460 from Patent EP1572962. JD036421 - Sequence 17445 from Patent EP1572962. JD514639 - Sequence 495663 from Patent EP1572962. JD241662 - Sequence 222686 from Patent EP1572962. JD343342 - Sequence 324366 from Patent EP1572962. JD022213 - Sequence 3237 from Patent EP1572962. JD032466 - Sequence 13490 from Patent EP1572962. DQ571043 - Homo sapiens piRNA piR-31155, complete sequence. JD445226 - Sequence 426250 from Patent EP1572962. JD480146 - Sequence 461170 from Patent EP1572962. JD543849 - Sequence 524873 from Patent EP1572962. JD221201 - Sequence 202225 from Patent EP1572962. JD188842 - Sequence 169866 from Patent EP1572962. JD202295 - Sequence 183319 from Patent EP1572962. JD546502 - Sequence 527526 from Patent EP1572962. JD282669 - Sequence 263693 from Patent EP1572962. JD063231 - Sequence 44255 from Patent EP1572962. JD162892 - Sequence 143916 from Patent EP1572962. JD162893 - Sequence 143917 from Patent EP1572962. JD453769 - Sequence 434793 from Patent EP1572962. JD252826 - Sequence 233850 from Patent EP1572962. JD538738 - Sequence 519762 from Patent EP1572962. JD243872 - Sequence 224896 from Patent EP1572962. JD452755 - Sequence 433779 from Patent EP1572962. JD373065 - Sequence 354089 from Patent EP1572962. JD391946 - Sequence 372970 from Patent EP1572962. JD384594 - Sequence 365618 from Patent EP1572962. JD249191 - Sequence 230215 from Patent EP1572962. JD376358 - Sequence 357382 from Patent EP1572962. JD369889 - Sequence 350913 from Patent EP1572962. JD279991 - Sequence 261015 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q15056 (Reactome details) participates in the following event(s):
R-HSA-72619 eIF2:GTP is hydrolyzed, eIFs are released R-HSA-72621 Ribosomal scanning R-HSA-157849 Formation of translation initiation complexes containing mRNA that does not circularize R-HSA-72697 Start codon recognition R-HSA-156823 Association of phospho-L13a with GAIT element of Ceruloplasmin mRNA R-HSA-156808 Formation of translation initiation complexes yielding circularized Ceruloplasmin mRNA in a 'closed-loop' conformation R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit R-HSA-72702 Ribosomal scanning and start codon recognition R-HSA-72649 Translation initiation complex formation R-HSA-156827 L13a-mediated translation R-HSA-72737 Cap-dependent Translation Initiation R-HSA-72613 Eukaryotic Translation Initiation R-HSA-72766 Translation R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
