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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alpha-methylacyl-CoA racemase
Summary
- Gene Symbol
-
- AMACR
- Aliases
-
- P504S
- RACE
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Alternative splicing
- Disease variant
- Intrahepatic cholestasis
- Isomerase
- Mitochondrion
- Peroxisome
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9UHK6 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid beta-oxidation using acyl-CoA oxidase |
|
|
| bile acid biosynthetic process | ||
| bile acid metabolic process |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| cytosol |
|
|
| cytoplasm | ||
| plasma membrane | ||
| peroxisome |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11801 | protein-energy malnutrition | |
| DOID:0050387 | nonpapillary renal cell carcinoma | |
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050639 | primary cutaneous amyloidosis | |
| DOID:0050674 | congenital bile acid synthesis defect | |
| DOID:0050745 | diffuse large B-cell lymphoma | |
| DOID:0050865 | tongue squamous cell carcinoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000135 | Hypogonadism |
| HP:0000505 | Visual impairment |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000518 | Cataract |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000716 | Depression |
| HP:0000763 | Sensory neuropathy |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001081 | Cholelithiasis |
| Disease ID | Disease Name |
|---|---|
| OMIM:614307 |
|
| OMIM:214950 |
|
| ORPHA:79095 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP004774
- Gene Name
- alpha-methylacyl-CoA racemase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174559 | WB:WBGene00014128 | ||
| 181140 | WB:WBGene00016034 | ||
| 35337 | FB:FBgn0032881 | ||
| 100182682 | CIOIN15012 | ||
| 103184877 | CALMI30883 | ||
| 102358344 | LATCH09113 | ||
| 553653 | ZFIN:ZDB-GENE-050522-484 | DANRE21037 | |
| 108279300 | ICTPU11879 | ||
| 113570768 | ELEEL08255 | ||
| 115159327 | SALTR70685 |
