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3-hydroxy-3-methylglutaryl-CoA lyase
Summary
- Gene Symbol
-
- HMGCL
- Aliases
-
- HL
- hydroxymethylglutaricaciduria
- hydroxymethylglutaryl-CoA lyase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Disease variant
- Disulfide bond
- Lipid metabolism
- Lyase
- Metal-binding
- Mitochondrion
- Peroxisome
- Proteomics identification
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P35914 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| L-leucine catabolic process |
|
|
| L-leucine catabolic process |
|
|
| L-leucine catabolic process |
|
|
| L-leucine catabolic process |
|
|
| lipid metabolic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrial matrix |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| magnesium ion binding |
|
|
| catalytic activity |
|
|
| hydroxymethylglutaryl-CoA lyase activity |
|
|
| hydroxymethylglutaryl-CoA lyase activity |
|
|
| hydroxymethylglutaryl-CoA lyase activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- HYDROXYMETHYLGLUTARYL-COA LYASE
- Functional Category
-
- E: Amino acid transport and metabolism
- H: Coenzyme transport and metabolism
- I: Lipid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
| Gene Ontology |
|---|
| catalytic activity |
| hydroxymethylglutaryl-CoA lyase activity |
| ketone body biosynthetic process |
| leucine catabolic process |
| metal ion binding |
| oxo-acid-lyase activity |
| InterPro |
|---|
| Aldolase-type TIM barrel |
| HMG-CoA lyase |
| Pyruvate carboxyltransferase |
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:0070541 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | |
| DOID:9252 | amino acid metabolic disorder |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000741 | Apathy |
| HP:0000952 | Jaundice |
| HP:0000969 | Edema |
| HP:0000980 | Pallor |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| Disease ID | Disease Name |
|---|---|
| ORPHA:20 |
|
| OMIM:246450 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002403
- Gene Name
- 3-hydroxymethyl-3-methylglutaryl-CoA lyase
