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Protein

Eukaryotic translation initiation factor 4H

Gene

EIF4H

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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
MIMi603431 gene
neXtProtiNX_Q15056

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
ProteomicsDBi60410
60411 [Q15056-2]
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

(Microbial infection) Interacts with HHV-1 Vhs.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113297, 58 interactors
IntActiQ15056, 19 interactors
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
Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR034229 eIF4H_RRM
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
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: July 18, 2018
This is version 183 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

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