EIF4H eukaryotic translation initiation factor 4H [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF4Hprovided by HGNC
Official Full Name: eukaryotic translation initiation factor 4Hprovided by HGNC
Primary source: HGNC:HGNC:12741
See related: Ensembl:ENSG00000106682 MIM:603431; AllianceGenome:HGNC:12741
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WSCR1; WBSCR1; eIF-4H
Summary: This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 113.5), placenta (RPKM 104.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (74174356..74197096)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75376368..75399096)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73588686..73611426)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H.
Title: RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H.
eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated amyotrophic lateral sclerosis.
Title: eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS.
The results from these procedures revealed eIF4H to be one of the targets of miR-519d. Downregulated eIF4H was analogous to the overexpressed miR-519d obtained from miR-519d agomir and si-eIF4H transfection. In summary, it can be concluded that miR-519d targets eIF4H in lung adenocarcinoma to inhibit cell proliferation and invasion
Title: Overexpression of miR-519d in lung adenocarcinoma inhibits cell proliferation and invasion via the association of eIF4H.
Results demonstrate that eukaryotic translation initiation factor 4H (eIF4H) plays a crucial role in translational control.
Title: Key contribution of eIF4H-mediated translational control in tumor promotion.
Eukaryotic Initiation Factor 4H Is under Transcriptional Control of p65/NF-kappaB.
Title: Eukaryotic Initiation Factor 4H Is under Transcriptional Control of p65/NF-κB.
Studies indicate that eIF4A (DDX2), together with its accessory proteins eIF4B and eIF4H, is thought to act as a helicase that unwinds secondary structures in the mRNA 5' UTR.
Title: mRNA helicases: the tacticians of translational control.
results suggest that eIF4H isoform 1 plays an important role in carcinogenesis through the activation of oncogenic signaling and could be a promising molecular target for cancer therapy
Title: An alternative splicing isoform of eukaryotic initiation factor 4H promotes tumorigenesis in vivo and is a potential therapeutic target for human cancer.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide searching of rare genetic variants in WTCCC data.
Data show that reduced levels of eIF4B, eIF4H, or polyA-binding protein, also trigger SG formation.
Title: Uncoupling stress granule assembly and translation initiation inhibition.
Study reports the topology of the eIF4A/4G/4H helicase complex, which is built from multiple experimentally observed domain-domain contacts.
Title: Topology and regulation of the human eIF4A/4G/4H helicase complex in translation initiation.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123755 (e-PCR)
- UniSTS:137779

D7S3017E (e-PCR)
- UniSTS:473955

RH40639 (e-PCR)
- UniSTS:89741

Wbscr1 (e-PCR), detects polymorphism
- UniSTS:230800

D7S3283 (e-PCR)
- UniSTS:254182

SHGC-5607 (e-PCR)
- UniSTS:79349

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA strand annealing activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA strand-exchange activity	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosomal small subunit binding	IBA Inferred from Biological aspect of Ancestor more info
enables translation factor activity, RNA binding	TAS Traceable Author Statement more info	PubMed
enables translation initiation factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in developmental growth	IEA Inferred from Electronic Annotation more info
involved_in eukaryotic translation initiation factor 4F complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in formation of translation preinitiation complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translational initiation	TAS Traceable Author Statement more info	PubMed
involved_in sexual reproduction	IEA Inferred from Electronic Annotation more info
involved_in translational initiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of eukaryotic translation initiation factor 4F complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: eukaryotic translation initiation factor 4H

Names: Williams-Beuren syndrome chromosome region 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008869.1 RefSeqGene

Range

4981..27721

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022170.2 → NP_071496.1 eukaryotic translation initiation factor 4H isoform 1

See identical proteins and their annotated locations for NP_071496.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC005057, AC005081

Consensus CDS

CCDS5564.1

UniProtKB/Swiss-Prot

A8K3R1, D3DXF6, D3DXF8, Q15056

UniProtKB/TrEMBL

A0A7I2V4E4

Related

ENSP00000265753.8, ENST00000265753.13

Conserved Domains (2) summary

TIGR01622
Location:40 → 227

SF-CC1; splicing factor, CC1-like family

cd12401
Location:37 → 120

RRM_eIF4H; RNA recognition motif (RRM) found in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
NM_031992.2 → NP_114381.1 eukaryotic translation initiation factor 4H isoform 2

See identical proteins and their annotated locations for NP_114381.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This variant encodes isoform 2 which is shorter, compared to isoform 1.

Source sequence(s)

AC005057, AC005081

Consensus CDS

CCDS5565.1

UniProtKB/TrEMBL

A0A7I2V4E4

Related

ENSP00000265754.8, ENST00000353999.6

Conserved Domains (2) summary

TIGR01622
Location:40 → 207

SF-CC1; splicing factor, CC1-like family

cd12401
Location:37 → 120

RRM_eIF4H; RNA recognition motif (RRM) found in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins