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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P35914 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| ketone body biosynthetic process | ||
| lipid metabolic process | ||
| mitochondrion organization | ||
| leucine catabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol |
|
|
| peroxisome | ||
| mitochondrial matrix | ||
| protein-containing complex | ||
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| hydroxymethylglutaryl-CoA lyase activity | ||
| magnesium ion binding | ||
| manganese ion binding | ||
| metal ion binding | ||
| structural molecule activity |
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:0050841 | focal hand dystonia | |
| DOID:0060319 | cardiac arrest | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0110423 | dilated cardiomyopathy 1C | |
| DOID:0110424 | dilated cardiomyopathy 1CC | |
| DOID:0110426 | dilated cardiomyopathy 1D | |
| DOID:0110427 | dilated cardiomyopathy 1V | |
| DOID:0110428 | dilated cardiomyopathy 1AA | |
| DOID:0110429 | dilated cardiomyopathy 1H | |
| DOID:0110430 | dilated cardiomyopathy 1G |
- 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 |
|---|---|
| OMIM:246450 |
|
| ORPHA:20 |
|
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
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 171738 | WB:WBGene00022150 | ||
| 33978 | FB:FBgn0031877 | ||
| 103188695 | CALMI39718 | ||
| 102365882 | LATCH18538 | ||
| 394190 | ZFIN:ZDB-GENE-040426-958 | DANRE11672 | |
| 103021565 | ASTMX11315 | ||
| 108269453 | ICTPU36059 | ||
| 113588062 | ELEEL40280 | ||
| 115162442 | SALTR58189 | ||
| 115172729 | SALTR72283 |
