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

Gene ID: 7458, updated on 5-Jul-2020

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
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

Genomic context

See EIF4H in Genome Data Viewer
Location:
7q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74174356..74197096)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73588706..73611429)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene elastin Neighboring gene Sharpr-MPRA regulatory region 6518 Neighboring gene ELN antisense RNA 1 Neighboring gene LIM domain kinase 1 Neighboring gene Sharpr-MPRA regulatory region 11846 Neighboring gene microRNA 590 Neighboring gene linker for activation of T cells family member 2 Neighboring gene replication factor C subunit 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0038

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA strand annealing activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA strand-exchange activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosomal small subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation factor activity, RNA binding TAS
Traceable Author Statement
more info
PubMed 
translation initiation factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cytoplasmic translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
developmental growth IEA
Inferred from Electronic Annotation
more info
 
eukaryotic translation initiation factor 4F complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
formation of translation preinitiation complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of translational initiation TAS
Traceable Author Statement
more info
PubMed 
sexual reproduction IEA
Inferred from Electronic Annotation
more info
 
translational initiation TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
eukaryotic translation initiation factor 4F complex TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
eukaryotic translation initiation factor 4H
Names
Williams-Beuren syndrome chromosome region 1

NCBI Reference Sequences (RefSeq)

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

  1. NG_008869.1 RefSeqGene

    Range
    4981..27721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022170.2NP_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
    Q15056
    Related
    ENSP00000265753.8, ENST00000265753.12
    Conserved Domains (2) summary
    cd12401
    Location:41116
    RRM_eIF4H; RNA recognition motif in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
    cl25887
    Location:40227
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  2. NM_031992.2NP_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/Swiss-Prot
    Q15056
    Related
    ENSP00000265754.8, ENST00000353999.6
    Conserved Domains (2) summary
    cd12401
    Location:41116
    RRM_eIF4H; RNA recognition motif in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
    TIGR01622
    Location:40207
    SF-CC1; splicing factor, CC1-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    74174356..74197096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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