======= HMGCL ======= == Gene Information == * **Official Symbol**: HMGCL * **Official Name**: 3-hydroxy-3-methylglutaryl-CoA lyase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3155|3155]] * **UniProt**: [[https://www.uniprot.org/uniprot/P35914|P35914]] * **Interactions**: [[https://thebiogrid.org/search.php?search=HMGCL&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HMGCL|Open PubMed]] * **OMIM**: [[https://omim.org/entry/613898|Open OMIM]] == Function Summary == * **Entrez Summary**: The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. * **UniProt Summary**: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. {ECO:0000269|PubMed:22847177, ECO:0000269|PubMed:22865860, ECO:0000269|PubMed:8566388}. |HMGL-like| |hydroxymethylglutaryl-CoA lyase activity| |leucine catabolic process| |carboxylic acid binding| |leucine metabolic process| |ketone body biosynthetic process| |cellular ketone body metabolic process| |ketone body metabolic process| |fatty-acyl-CoA binding| |branched-chain amino acid catabolic process| |branched-chain amino acid metabolic process| |peroxisomal matrix| |manganese ion binding| |protein targeting to peroxisome| |protein localization to peroxisome| |establishment of protein localization to peroxisome| |peroxisomal transport| |peroxisome organization| |response to fatty acid| |fatty acid derivative biosynthetic process| |acyl-CoA metabolic process| |thioester metabolic process| |alpha-amino acid catabolic process| |peroxisome| |liver development| |cellular amino acid catabolic process| |hepaticobiliary system development| |ribonucleoside bisphosphate metabolic process| |nucleoside bisphosphate metabolic process| |purine nucleoside bisphosphate metabolic process| |protein tetramerization| |fatty acid derivative metabolic process| |response to starvation| |alpha-amino acid metabolic process| |response to nutrient| |magnesium ion binding| |coenzyme metabolic process| |carboxylic acid catabolic process| |organic acid catabolic process| |cellular amino acid metabolic process| |purine ribonucleotide metabolic process| |ribonucleotide metabolic process| |purine nucleotide metabolic process| |ribose phosphate metabolic process| |response to acid chemical| |protein targeting| |sulfur compound metabolic process| |purine-containing compound metabolic process| |mitochondrial matrix| |gland development| |generation of precursor metabolites and energy| |establishment of protein localization to organelle| |small molecule catabolic process| |cofactor metabolic process| |mitochondrion organization| |nucleotide metabolic process| |nucleoside phosphate metabolic process| |response to nutrient levels| |drug metabolic process| |protein complex oligomerization| |response to extracellular stimulus| |nucleobase-containing small molecule metabolic process| |small molecule biosynthetic process| |protein localization to organelle| |cellular amide metabolic process| |response to lipid| |protein homodimerization activity| |organophosphate metabolic process| |carboxylic acid metabolic process| |intracellular protein transport| |oxoacid metabolic process| |organic acid metabolic process| |carbohydrate derivative metabolic process| |organonitrogen compound catabolic process| |lipid metabolic process| |mitochondrion| |protein transport| |intracellular transport| |peptide transport| |response to oxygen-containing compound| |protein-containing complex assembly| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |small molecule metabolic process| |organic substance catabolic process| |cellular catabolic process| |establishment of localization in cell| |nitrogen compound transport| |protein-containing complex subunit organization| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|1.79| |[[:results:exp458|Bisphenol S 100μM R08 exp458]]|1.81| |[[:results:exp216|Erlotinib 10μM R05 exp216]]|1.9| |[[:results:exp535|Trimetrexate 0.03μM R08 exp535]]|1.98| |[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.08| |[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|2.18| |[[:results:exp234|Ethanol 0.01 R05 exp234]]|2.21| |[[:results:exp301|VER-155008 3.9μM R06 exp301]]|2.24| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|2.46| |[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|4.13| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 11335 * **Expression level (log2 read counts)**: 3.46 {{:chemogenomics:nalm6 dist.png?nolink |}}