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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cytochrome b5 reductase 3
Summary
- Gene Symbol
-
- CYB5R3
- Aliases
-
- B5R
- NADH-cytochrome b5 reductase 3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative promoter usage
- Alternative splicing
- Cholesterol biosynthesis
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- FAD
- Mitochondrion outer membrane
- Myristate
- NAD
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| P00387 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| blood circulation |
|
|
| cholesterol biosynthetic process | ||
| nitric oxide biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| mitochondrial membrane | ||
| mitochondrial outer membrane |
|
|
| membrane | ||
| mitochondrion |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytochrome-b5 reductase activity, acting on NAD(P)H | ||
| nitrite reductase (NO-forming) activity | ||
| AMP binding | ||
| NAD binding | ||
| protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:12835 | quadriplegia | |
| DOID:1612 | breast cancer | |
| DOID:162 | cancer | |
| DOID:1781 | thyroid cancer | |
| DOID:1826 | epilepsy | |
| DOID:219 | colon cancer | |
| DOID:235 | colonic benign neoplasm | |
| DOID:2834 | acquired polycythemia | |
| DOID:2838 | stress polycythemia | |
| DOID:2839 | erythropoietin polycythemia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000486 | Strabismus |
| HP:0000565 | Esotropia |
| HP:0000592 | Blue sclerae |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000961 | Cyanosis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| Disease ID | Disease Name |
|---|---|
| ORPHA:621 |
|
| OMIM:250800 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP006716
- Gene Name
- cytochrome b5 reductase 3
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 474479 | CANLF01535 | ||
| 112933997 | VULVU30053 | ||
| 123780516 | URSAM12851 | ||
| 101693176 | MUSPF05348 | ||
| 122225217 | PANLE18059 | ||
| 101339378 | TURTR07145 | ||
| 118901815 | BALMU04505 | ||
| 100071050 | HORSE25857 | ||
| 100524254 | PIGXX24963 | ||
| 515773 | BOVIN30805 |
