InnateDB Protein
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IDBP-21008.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EIF4H
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Protein Name
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eukaryotic translation initiation factor 4H
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Synonyms
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eIF-4H; WBSCR1; WSCR1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000265754
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InnateDB Gene
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IDBG-21006 (EIF4H)
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Protein Structure
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Function |
Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA. {ECO:0000269PubMed:10585411, ECO:0000269PubMed:11418588}.
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Subcellular Localization |
Cytoplasm, perinuclear region {ECO:0000250}.
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Disease Associations |
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.
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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. {ECO:0000269PubMed:11003705, ECO:0000269PubMed:8812460}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
34
[view]
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Protein-Protein |
32
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000504
RNA recognition motif domain
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PFAM |
PF00076
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PRINTS |
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PIRSF |
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SMART |
SM00360
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TIGRFAMs |
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Modification |
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SwissProt |
Q15056
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PhosphoSite |
PhosphoSite-Q15056
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TrEMBL |
Q75MU1
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UniProt Splice Variant |
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Entrez Gene |
7458
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UniGene |
Hs.520943
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RefSeq |
NP_114381
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HUGO |
HGNC:12741
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OMIM |
603431
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CCDS |
CCDS5565
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HPRD |
11940
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IMGT |
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EMBL |
AC005057
AC005081
AF045555
AK290676
BC010021
BC021214
BC066928
CH471200
D26068
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GenPept |
AAC04859
AAF75557
AAH10021
AAH21214
AAH66928
AAS07403
AAS07440
BAA05063
BAF83365
EAW69615
EAW69616
EAW69617
EAW69618
EAW69619
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