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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 | ||
| hemoglobin complex |
|
|
| extracellular region |
|
|
| cytoplasm |
|
|
| lipid droplet |
| 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:0050495 | exanthema subitum | |
| DOID:0050508 | variola major | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050789 | tarsal-carpal coalition syndrome | |
| DOID:0060076 | estrogen-receptor negative breast cancer | |
| DOID:0060250 | idiopathic scoliosis | |
| DOID:0060474 | familial erythrocytosis 2 | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:10293 | monocular esotropia | |
| DOID:1059 | intellectual disability |
- 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 |
|---|---|---|---|
| 179029 | WB:WBGene00020268 | ||
| 188150 | WB:WBGene00020267 | ||
| 39336 | FB:FBgn0036211 | ||
| 100176772 | CIOIN16416 | ||
| 103179894 | CALMI19021 | ||
| 102362571 | LATCH17134 | ||
| 324560 | ZFIN:ZDB-GENE-030131-3281 | DANRE33882 | |
| 103021355 | ASTMX17911 | ||
| 108279735 | ICTPU12785 | ||
| 113572561 | ELEEL12305 |
