EEFSEC
Eukaryotic Elongation Factor, Selenocysteine-tRNA Specific
Gene Information Card
| Symbol | EEFSEC |
|---|---|
| Full Name | eukaryotic elongation factor, selenocysteine-tRNA specific |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 60678 ncbi.nlm.nih.gov/gene/60678 |
| Ensembl ID | ENSG00000114771 |
| UniProt ID | P57772 |
| OMIM ID | 607695 |
| HGNC ID | 24614 |
| Aliases | SELB, EFSEC, SECp43 |
Description
EEFSEC encodes a translation elongation factor specifically required for the co-translational incorporation of selenocysteine (Sec), the 21st amino acid, into selenoproteins. It binds selenocysteine-tRNA and facilitates its delivery to the ribosome in response to UGA codons that are recoded as selenocysteine via a SECIS element in the 3' UTR of selenoprotein mRNAs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Selenoprotein deficiency (general) | Impaired selenocysteine incorporation due to EEFSEC dysfunction leads to reduced selenoprotein synthesis, affecting antioxidant defense and thyroid hormone metabolism. | PMID: 12624180 |
| Colorectal cancer (potential) | Altered EEFSEC expression may disrupt selenoprotein levels, contributing to oxidative stress and tumorigenesis. | COSMIC: EEFSEC mutations in colorectal cancer samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Moderate expression |
| HepG2 | 6.0 | Low expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1567C>T (p.Arg523Trp) | Missense | 0.005% (gnomAD) | Potential loss of Sec-tRNA binding |
| c.2014_2015insA | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, impairing selenocysteine incorporation.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Selenocysteine synthesis and incorporation (Reactome: R-HSA-2408522)
• Translation (KEGG: hsa03013)
Protein Summary
EEFSEC is a 583-amino acid protein that functions as a specific elongation factor for selenocysteine. It contains a GTP-binding domain and a Sec-tRNA binding domain, enabling it to recognize the SECIS element and deliver Sec-tRNA to the ribosome. The protein is essential for the synthesis of all selenoproteins, which play critical roles in antioxidant defense, redox regulation, and thyroid hormone metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EEFSEC Knockout HEK293 Cell Line | EDJ-KQ51607 | Human | 60678 | Details Get a Quote |
| EEFSEC Knockout HeLa Cell Line | EDJ-KQ56988 | Human | 60678 | Details Get a Quote |
| EEFSEC Knockout A-549 Cell Line | EDJ-KQ65491 | Human | 60678 | Details Get a Quote |
| EEFSEC Knockout HCT 116 Cell Line | EDJ-KQ73929 | Human | 60678 | Details Get a Quote |
