CYB561D1: Cytochrome B561 Domain Containing 1
A putative transmembrane electron transfer protein with limited functional characterization.
Gene Information Card
| Symbol | CYB561D1 |
|---|---|
| Full Name | Cytochrome B561 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 284613 ncbi.nlm.nih.gov/gene/284613 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N8Q1 |
| OMIM ID | 619652 |
| HGNC ID | 25708 |
| Aliases | FLJ22662, MGC13170 |
Description
CYB561D1 encodes a protein containing a cytochrome b561 domain, which is typically involved in transmembrane electron transfer. The specific biological function of CYB561D1 is not fully characterized, but it is predicted to localize to membranes and may participate in redox processes.
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 | 5.1 | Low |
| Brain | 3.2 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.0 | Low expression |
| K562 | 2.5 | Low expression |
| HeLa | 1.8 | Not detected |
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 data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • electron transfer activity (GO:0009055) | • integral component of membrane (GO:0016021) |
Protein Summary
The CYB561D1 protein is a predicted transmembrane protein with a cytochrome b561 domain, suggesting a role in electron transfer across membranes. Its exact function and physiological significance remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYB561D1 Knockout HEK293 Cell Line | EDJ-KQ13069 | Human | 284613 | Details Get a Quote |
| CYB561D1 Knockout A-549 Cell Line | EDJ-KQ41109 | Human | 284613 | Details Get a Quote |
| CYB561D1 Knockout HCT 116 Cell Line | EDJ-KQ42343 | Human | 284613 | Details Get a Quote |
| CYB561D1 Knockout HeLa Cell Line | EDJ-KQ42344 | Human | 284613 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
