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Protein

Eukaryotic translation initiation factor 4H

Gene

EIF4H

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.2 Publications

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • helicase activity Source: Reactome
  • ribosomal small subunit binding Source: GO_Central
  • RNA binding Source: UniProtKB
  • RNA strand annealing activity Source: GO_Central
  • RNA strand-exchange activity Source: GO_Central
  • translation factor activity, RNA binding Source: ProtInc
  • translation initiation factor activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionInitiation factor, RNA-binding
Biological processHost-virus interaction, Protein biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-156827. L13a-mediated translational silencing of Ceruloplasmin expression.
R-HSA-72649. Translation initiation complex formation.
R-HSA-72662. Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S.
R-HSA-72702. Ribosomal scanning and start codon recognition.
R-HSA-72706. GTP hydrolysis and joining of the 60S ribosomal subunit.

Names & Taxonomyi

Protein namesi
Recommended name:
Eukaryotic translation initiation factor 4H
Short name:
eIF-4H
Alternative name(s):
Williams-Beuren syndrome chromosomal region 1 protein
Gene namesi
Name:EIF4H
Synonyms:KIAA0038, WBSCR1, WSCR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106682.14.
HGNCiHGNC:12741. EIF4H.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi7458.
OpenTargetsiENSG00000106682.
PharmGKBiPA162384997.

Chemistry databases

ChEMBLiCHEMBL1293274.

Polymorphism and mutation databases

BioMutaiEIF4H.
DMDMi18276665.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000816192 – 248Eukaryotic translation initiation factor 4HAdd BLAST247

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei13PhosphoserineCombined sources1
Modified residuei14PhosphoserineCombined sources1
Modified residuei19Omega-N-methylarginineBy similarity1
Modified residuei21PhosphoserineCombined sources1
Modified residuei22Omega-N-methylarginineBy similarity1
Modified residuei24PhosphoserineCombined sources1
Modified residuei32PhosphoserineCombined sources1
Modified residuei136Omega-N-methylarginineBy similarity1
Modified residuei166Omega-N-methylarginineCombined sources1
Modified residuei175Omega-N-methylarginineBy similarity1
Modified residuei230PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ15056.
MaxQBiQ15056.
PaxDbiQ15056.
PeptideAtlasiQ15056.
PRIDEiQ15056.
TopDownProteomicsiQ15056-1. [Q15056-1]
Q15056-2. [Q15056-2]

PTM databases

iPTMnetiQ15056.
PhosphoSitePlusiQ15056.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000106682.
CleanExiHS_EIF4H.
GenevisibleiQ15056. HS.

Organism-specific databases

HPAiHPA030542.

Interactioni

Subunit structurei

Interacts with HHV-1 Vhs.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi113297. 57 interactors.
IntActiQ15056. 19 interactors.
MINTiMINT-5002829.
STRINGi9606.ENSP00000265753.

Chemistry databases

BindingDBiQ15056.

Structurei

3D structure databases

ProteinModelPortaliQ15056.
SMRiQ15056.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini42 – 118RRMPROSITE-ProRule annotationAdd BLAST77

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni137 – 157HHV-1 Vhs binding siteAdd BLAST21

Phylogenomic databases

eggNOGiKOG0118. Eukaryota.
COG0724. LUCA.
GeneTreeiENSGT00530000063406.
HOGENOMiHOG000013063.
HOVERGENiHBG018193.
InParanoidiQ15056.
OMAiKVNRAQQ.
OrthoDBiEOG091G0PIF.
PhylomeDBiQ15056.
TreeFamiTF313897.

Family and domain databases

CDDicd12401. RRM_eIF4H. 1 hit.
InterProiView protein in InterPro
IPR034229. eIF4H_RRM.
IPR000504. RRM_dom.
PfamiView protein in Pfam
PF00076. RRM_1. 1 hit.
SMARTiView protein in SMART
SM00360. RRM. 1 hit.
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiView protein in PROSITE
PS50102. RRM. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: Q15056-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADFDTYDDR AYSSFGGGRG SRGSAGGHGS RSQKELPTEP PYTAYVGNLP
60 70 80 90 100
FNTVQGDIDA IFKDLSIRSV RLVRDKDTDK FKGFCYVEFD EVDSLKEALT
110 120 130 140 150
YDGALLGDRS LRVDIAEGRK QDKGGFGFRK GGPDDRGMGS SRESRGGWDS
160 170 180 190 200
RDDFNSGFRD DFLGGRGGSR PGDRRTGPPM GSRFRDGPPL RGSNMDFREP
210 220 230 240
TEEERAQRPR LQLKPRTVAT PLNQVANPNS AIFGGARPRE EVVQKEQE
Length:248
Mass (Da):27,385
Last modified:January 23, 2007 - v5
Checksum:iD3098B7270A9CF38
GO
Isoform Short (identifier: Q15056-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     137-156: Missing.

Show »
Length:228
Mass (Da):25,200
Checksum:i3374AF6A7558B9F7
GO

Sequence cautioni

The sequence BAA05063 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005799137 – 156Missing in isoform Short. 3 PublicationsAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF045555 Genomic DNA. Translation: AAF75557.1.
AF045555 Genomic DNA. Translation: AAC04859.2.
D26068 mRNA. Translation: BAA05063.1. Different initiation.
AK290676 mRNA. Translation: BAF83365.1.
CH471200 Genomic DNA. Translation: EAW69616.1.
CH471200 Genomic DNA. Translation: EAW69615.1.
CH471200 Genomic DNA. Translation: EAW69617.1.
CH471200 Genomic DNA. Translation: EAW69618.1.
CH471200 Genomic DNA. Translation: EAW69619.1.
BC010021 mRNA. Translation: AAH10021.1.
BC021214 mRNA. Translation: AAH21214.1.
BC066928 mRNA. Translation: AAH66928.1.
CCDSiCCDS5564.1. [Q15056-1]
CCDS5565.1. [Q15056-2]
RefSeqiNP_071496.1. NM_022170.1. [Q15056-1]
NP_114381.1. NM_031992.1. [Q15056-2]
UniGeneiHs.520943.

Genome annotation databases

EnsembliENST00000265753; ENSP00000265753; ENSG00000106682. [Q15056-1]
ENST00000353999; ENSP00000265754; ENSG00000106682. [Q15056-2]
GeneIDi7458.
KEGGihsa:7458.
UCSCiuc003uad.2. human. [Q15056-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiIF4H_HUMAN
AccessioniPrimary (citable) accession number: Q15056
Secondary accession number(s): A8K3R1, D3DXF6, D3DXF8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 23, 2007
Last modified: September 27, 2017
This is version 177 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Translation initiation factors
    List of translation initiation factor entries
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot