| Gene Information | |
|---|---|
| Gene Name | HMGCL |
| Organism | Homo sapiens (Human) |
| Gene Length | 325 |
| Protein Names | Hydroxymethylglutaryl-CoA lyase, mitochondrial (HL) (HMG-CoA lyase) (EC 4.1.3.4) (3-hydroxy-3-methylglutarate-CoA lyase) |
| Target Name | hydroxymethylglutaryl-coa lyase, mitochondrial |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000117305 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | P35914 |
| Gene Card | HMGCL |
| Uniprot ID | P35914 |
| Pfam | PF00682 |
| In ASD | no |
| Allosteric Prediction | yes (0.237156378) |
| Ortholog in Animals | Alpaca_ HMGCL ( ortholog_one2one ) Dog_ HMGCL ( ortholog_one2one ) GuineaPig_ HMGCL ( ortholog_one2one ) Macaque_ HMGCL ( ortholog_one2one ) Mouse_ Hmgcl ( ortholog_one2one ) Pig_ HMGCL ( ortholog_one2one ) Rat_ Hmgcl ( ortholog_one2one ) |
| Ohnologs | HMGCLL1 |
| Paralogs | HMGCLL1 |
| Tissue | NA |
| Tissue Specificity | Highest expression in liver. Expressed in pancreas, kidney, intestine, testis, fibroblasts and lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA level) is highest in heart (30%), skeletal muscle (22%), and brain (14%). {ECO:0000269|PubMed:21952825}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2CW6 (X-ray 2.10A ) 3MP3 (X-ray 2.40A ) 3MP4 (X-ray 2.20A ) 3MP5 (X-ray 2.25A ) |
| DBSNP | rs121964997 rs1467902610 rs121964996 rs1357942068 rs199587895 rs765475941 rs760106433 rs1553131940 rs727503963 rs121964998 |
| Subcellular location [CC] | Mitochondrion matrix {ECO:0000250|UniProtKB:P38060}. Peroxisome {ECO:0000250|UniProtKB:P38060}. Note=Unprocessed form is peroxisomal. {ECO:0000250|UniProtKB:P38060}. |
| Mouse PG classification | LPG |
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