RFESD (Rieske Fe-S Domain-Containing Protein)
A gene encoding a Rieske-type iron-sulfur cluster domain protein with potential roles in cellular redox processes and mitochondrial function.
Gene Information Card
| Symbol | RFESD |
|---|---|
| Full Name | Rieske Fe-S Domain-Containing Protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 100131825 ncbi.nlm.nih.gov/gene/100131825 |
| Ensembl ID | ENSG00000213614 |
| UniProt ID | A6NKD9 |
| OMIM ID | 618969 |
| HGNC ID | 33749 |
| Aliases | C5orf63, FLJ46321, MGC16384 |
Description
RFESD encodes a protein containing a Rieske-type iron-sulfur (Fe-S) cluster domain, typically involved in electron transfer and redox reactions. The protein is predicted to localize to mitochondria and may participate in cellular respiration or oxidative stress responses. Expression is enriched in tissues with high metabolic demand.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Skeletal Muscle | 6.9 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| K562 | 10.1 | Low expression |
| HepG2 | 7.5 | Low expression |
| A549 | 5.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • 2 iron, 2 sulfur cluster binding (GO:0051537) |
| • electron transfer activity (GO:0009055) | • mitochondrial electron transport, NADH to ubiquinone (GO:0006120) |
Pathways
• Electron Transport Chain (Complex III) - inferred by domain homology
Protein Summary
The RFESD protein (UniProt A6NKD9) is a 220-amino acid polypeptide containing a conserved Rieske Fe-S domain. It is predicted to be mitochondrial and may function as an electron carrier in the respiratory chain. Structural homology suggests involvement in ubiquinol-cytochrome c reductase activity, though direct biochemical characterization is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RFESD Knockout HEK293 Cell Line | EDJ-KQ8877 | Human | 317671 | Details Get a Quote |
| RFESD Knockout HCT 116 Cell Line | EDJ-KQ33967 | Human | 317671 | Details Get a Quote |
| RFESD Knockout A-549 Cell Line | EDJ-KQ35200 | Human | 317671 | Details Get a Quote |
| RFESD Knockout HeLa Cell Line | EDJ-KQ35201 | Human | 317671 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
