Stanford Home
Ovarian Kaleidoscope Database (OKdb)

Home

History

Transgenic Mouse Models

INFORGRAPHICS

Search
Submit
Update
Chroms
Browse
login /off

Hsueh lab

HPMR

Visits
since 01/2001:
176557

Eukaryotic Translation Initiation Factor 4e Nuclear Import Factor 1 OKDB#: 2963
 Symbols: EIF4ENIF1 Species: human
 Synonyms: 4E-T, Clast4, FLJ21601,EIF4E-TRANSPORTER|4E-T  Locus: 22q11.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
Mammalian Reproductive Genetics   Endometrium Database Resource   Orthologous Genes   UCSC Genome Browser   GEO Profiles new!   Amazonia (transcriptome data) new!

R-L INTERACTIONS   MGI

DNA Microarrays
SHOW DATA ...
link to BioGPS
General Comment

NCBI Summary: The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic;its own nuclear import is regulated by a nuclear localization signal and nuclear export signals.
General function Apoptosis, Translation factor
Comment
Cellular localization Cytoplasmic, Nuclear
Comment
Ovarian function
Comment Clast4, the murine homologue of human eIF4E-Transporter, is highly expressed in developing oocytes and post-translationally modified at meiotic maturation Villaescusa JC, et al . In metazoans, translational regulation of a set of maternal mRNAs directs oocyte maturation and early embryogenesis. These transcripts are often kept dormant until their products are spatially and temporally required in development. The interaction between general translation factors (i.e. eIF4E) and their specific interactors influences translation initiation. A search of the protein database for a mouse homologue of the Drosophila Cup protein, a translational repressor during female germ-line development, identified the product of the Clast4 gene. In this report, we show that Clast4 mRNA and protein are highly expressed within the cytoplasm of growing oocytes. The Clast4 protein is stable during this developmental window and post-translationally modified by phosphorylation upon oocyte meiotic maturation. Additionally, we show that Clast4 and eIF4E directly interact by means of a canonical and functional eIF4E-binding motif. Our results suggest that Clast4, similar to Drosophila Cup, may act at the translational level during murine female germ-line development.
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages Antral, Preovulatory
Comment
Phenotypes POF (premature ovarian failure)
Mutations 1 mutations

Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Mutations in eIF4ENIF1 Are Associated With Primary Ovarian Insufficiency. Kasippillai T 2013 et al. Context:Primary ovarian insufficiency (POI), or premature ovarian failure, results from ovarian follicle depletion with a consequent elevation of FSH levels before age 40 years. We identified a family in which 9 women in 3 consecutive generations developed menopause at approximately age 30 years. We hypothesized a genetic cause with a dominant mode of inheritance.Design:This was a family-based genetic study and a replicate group of women with POI.Setting:The study was conducted at an academic medical center.Patients:Seven affected women and an obligate carrier and 7 unaffected family members were genotyped. The genes of interest were also sequenced in 38 unrelated women with POI.Intervention:The DNA from 7 family members was subjected to whole-exome sequencing. The genotypes of interest were confirmed and genotypes of additional family members and unrelated women with POI were determined using Sanger sequencing.Main Outcome Measure:A high-impact, deleterious variant that segregated appropriately with POI in the family was measured.Results:A heterozygous stop codon (Ser429X) was identified in the eukaryotic translation initiation factor 4E nuclear import factor 1 (eIF4ENIF1) in the proband and all affected women but not in the unaffected family members. The chance that such a high-impact, deleterious variant would segregate appropriately among the affected and unaffected relatives by chance is very low (P < .05). There were no additional mutations identified in eIF4ENIF1 or eIF4E in 38 unrelated women with POI.Conclusion:Data demonstrate a new gene associated with dominantly inherited POI. These results highlight the importance of translation initiation factors and their regulators in ovarian function. /////////////////////////

SNPs
D E M O
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
None
Search for Antibody
Discuss..
blog comments powered by Disqus
Related Genes
Beta
Show data ...


created: Dec. 14, 2005, 10:45 a.m. by: hsueh   email:
home page:
last update: Aug. 7, 2013, 11:18 a.m. by: hsueh    email:



Use the back button of your browser to return to the Gene List.

Click here to return to gene search form