CYB561A3
Cytochrome b561 family member A3
Gene Information Card
| Symbol | CYB561A3 |
|---|---|
| Full Name | cytochrome b561 family member A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 10106 ncbi.nlm.nih.gov/gene/10106 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9H6A0 |
| OMIM ID | 619745 |
| HGNC ID | 25771 |
| Aliases | C11orf2, FLJ11184, MGC138290 |
Description
CYB561A3 encodes a member of the cytochrome b561 family of transmembrane proteins that function as ascorbate-dependent electron transporters. The protein is involved in iron metabolism and may play a role in the reduction of monodehydroascorbate. It is widely expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.5 | Medium expression |
| K562 | 8.1 | Medium expression |
| HepG2 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | missense | <0.01% | Unknown functional effect |
| c.454G>A (p.Gly152Ser) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding (GO:0005507) | • oxidoreductase activity (GO:0016491) |
| • integral component of membrane (GO:0016021) | • transport (GO:0006810) |
Pathways
• Ascorbate recycling (cytochrome b561-dependent)
• Electron transport chain (mitochondrial)
Protein Summary
CYB561A3 is a 229-amino acid transmembrane protein with a molecular weight of approximately 26 kDa. It contains a conserved cytochrome b561 domain and two heme-binding motifs. The protein localizes to the plasma membrane and endomembrane system, where it facilitates electron transfer across membranes using ascorbate as an electron donor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYB561A3 Knockout HEK293 Cell Line | EDJ-KQ2063 | Human | 220002 | Details Get a Quote |
| CYB561A3 Knockout A-549 Cell Line | EDJ-KQ22129 | Human | 220002 | Details Get a Quote |
| CYB561A3 Knockout HCT 116 Cell Line | EDJ-KQ22130 | Human | 220002 | Details Get a Quote |
| CYB561A3 Knockout HeLa Cell Line | EDJ-KQ22131 | Human | 220002 | Details Get a Quote |
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