|
Gene id |
1981 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
EIF4G1 Gene UCSC Ensembl |
|
Aliases |
EIF-4G1, EIF4F, EIF4G, EIF4GI, P220, PARK18 |
|
Gene name |
eukaryotic translation initiation factor 4 gamma 1 |
|
Alternate names |
eukaryotic translation initiation factor 4 gamma 1, EIF4-gamma, eIF-4-gamma 1, eucaryotic translation initiation factor 4G, |
|
Gene location |
3q27.1 (184314494: 184335357) Exons: 34 NC_000005.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition o
|
|
OMIM |
600495 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Parkinson disease | KEGG: H00057 |
| Associated with spermiogenesis | MIK: 22190698 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with spermiogenesis | MIK: 22190698 |
| Asthenozoospermia | MIK: 31268247 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 22190698 |
Associated
with sper
miogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 31268247 |
Asthenozoo
spermia
|
c.2521C>T: p.(Pro841Ser) (NC_000003.11: g.184043412C>T) in exon13 and c.2957C>G: p.(Ala986Gly), g.184045117C>G |
|
1 case
|
Male infertility |
NGS
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|