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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
Summary
- UniProt ID
- P49748
- Gene Symbol
-
- ACADVL
- VLCAD
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cardiomyopathy
- Direct protein sequencing
- Disease variant
- FAD
- Fatty acid metabolism
- Mitochondrion inner membrane
- Oxidoreductase
- Phosphoprotein
- Reference proteome
- S-nitrosylation
- Transit peptide
- Gene Ontology (GO)
| GO Term |
|---|
| mitochondrion |
| mitochondrial inner membrane |
| mitochondrial matrix |
| mitochondrial membrane |
| mitochondrial nucleoid |
| nucleoplasm |
| nucleolus |
Sequence
MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 21 |
|
|||
| 52 |
|
|||
| 61 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Beta oxidation of palmitoyl-CoA to myristoyl-CoA | Homo sapiens |
| XBP1(S) activates chaperone genes | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060676 | catecholaminergic polymorphic ventricular tachycardia 2 | |
| DOID:0060677 | catecholaminergic polymorphic ventricular tachycardia 3 | |
| DOID:0060678 | catecholaminergic polymorphic ventricular tachycardia 4 | |
| DOID:0060679 | catecholaminergic polymorphic ventricular tachycardia 5 | |
| DOID:0080155 | very long chain acyl-CoA dehydrogenase deficiency | |
| DOID:0080208 | metabolic dysfunction-associated steatotic liver disease | |
| DOID:0080326 | familial hypertrophic cardiomyopathy | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0110035 | Alzheimer's disease 2 | |
| DOID:0110037 | Alzheimer's disease 5 |
