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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cytochrome P450 family 2 subfamily U member 1
Summary
- Gene Symbol
-
- CYP2U1
- Aliases
-
- SPG49
- spastic paraplegia 49
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 113612
- HGNC
- 20582
- KEGG Gene ID
- hsa:113612
- PubChem
- 113612
- Alliance of Genome Resources
Annotation
- Keyword
-
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Heme
- Hereditary spastic paraplegia
- Lipid metabolism
- Microsome
- Mitochondrion inner membrane
- Monooxygenase
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q7Z449 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytochrome metabolic process |
|
|
| omega-hydroxylase P450 pathway | ||
| organic acid metabolic process | ||
| xenobiotic metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| mitochondrial inner membrane | ||
| cytoplasm | ||
| endoplasmic reticulum membrane |
|
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
- Enzyme
- PMID
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110787 | hereditary spastic paraplegia 36 | |
| DOID:1432 | blindness | |
| DOID:0050835 | generalized dystonia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050886 | Troyer syndrome | |
| DOID:0060245 | Mast syndrome | |
| DOID:0060246 | MASA syndrome | |
| DOID:0060491 | SPOAN syndrome | |
| DOID:0080067 | Charcot-Marie-Tooth disease type 5 | |
| DOID:0080502 | GM1 gangliosidosis type 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001258 | Spastic paraplegia |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001332 | Dystonia |
| HP:0002064 | Spastic gait |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002135 | Basal ganglia calcification |
| HP:0002317 | Unsteady gait |
| Disease ID | Disease Name |
|---|---|
| ORPHA:320411 |
|
| OMIM:615030 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178926 | WB:WBGene00000373 | ||
| 179148 | WB:WBGene00015709 | ||
| 182888 | WB:WBGene00016092 | ||
| 187025 | WB:WBGene00010589 | ||
| 187183 | WB:WBGene00010705 | ||
| 187184 | WB:WBGene00010706 | ||
| 187185 | WB:WBGene00010707 | ||
| 187573 | WB:WBGene00011009 | ||
| 189444 | WB:WBGene00012448 | ||
| 32858 | FB:FBgn0010383 |
