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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HMGCLL1
3-hydroxy-3-methylglutaryl-CoA lyase like 1
Chromosome 6 · 6p12.1
NCBI Gene: 54511Ensembl: ENSG00000146151.14HGNC: HGNC:21359UniProt: B7Z212
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hydroxymethylglutaryl-CoA lyase activitymembraneperinuclear region of cytoplasmendoplasmic reticulumalcohol drinkingosteoarthritis, hippreeclampsiaaneurysm
✦AI Summary

HMGCLL1 (3-hydroxy-3-methylglutaryl-CoA lyase like 1) is a non-mitochondrial enzyme that catalyzes the cleavage of HMG-CoA into acetyl-CoA and acetoacetate, supporting ketogenesis and energy production in extrahepatic tissues 1. Unlike the classical mitochondrial HMG-CoA lyase, HMGCLL1 localizes to the cytosolic side of the endoplasmic reticulum membrane and cytosol in a myristoylation-dependent manner 12. The enzyme demonstrates kinetic properties comparable to its mitochondrial counterpart but shows higher substrate affinity and is particularly expressed in brain, lung, and kidney tissues 23. Transcriptionally, HMGCLL1 is consistently downregulated across 33 human cancer types, suggesting association with poor clinical outcomes 4. In chr6 myeloid leukemia, HMGCLL1 genetic variants serve as a predictive biomarker for deep molecular response to imatinib therapy; HMGCLL1 blockade reduces BCR-ABL1-positive cell viability and induces G0/G1 cell cycle arrest 5. Additionally, HMGCLL1 downregulation correlates with anticancer effects in breast cancer and represents a biomarker in schizophrenia pathology involving energy metabolism dysfunction 67. The functional roles of extramitochondrial HMGCLL1 beyond classical ketogenesis remain incompletely understood.

Sources cited
1
HMGCLL1 is an extramitochondrial HMG-CoA lyase with myristoylation-dependent localization to nonmitochondrial membranes and perinuclear regions
PMID: 22865860
2
HMGCLL1 localizes to endoplasmic reticulum and cytosol with higher substrate affinity than mitochondrial enzyme; particularly expressed in lung, kidney, and brain
PMID: 22847177
3
HMGCLL1 is a cytosolic HMG-CoA lyase encoded by a different gene than mitochondrial HMGCL; localizes to endoplasmic reticulum membrane
PMID: 31817290
4
HMGCLL1 is consistently downregulated across 33 human cancer types, associated with poor clinical outcomes
PMID: 28427185
5
HMGCLL1 variants predict deep molecular response to imatinib in CML; blockade decreases BCR-ABL1-positive cell viability and causes G0/G1 arrest
PMID: 30555164
6
HMGCLL1 downregulation is associated with anticancer effects through regulation of lipid metabolism in breast cancer
PMID: 33342787
7
HMGCLL1 is associated with energy metabolism dysfunction and serves as a potential biomarker in schizophrenia pathology
PMID: 34863699
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.25Weak
aneurysmOpen Targets
0.24Weak
Inguinal herniaOpen Targets
0.21Weak
vesicoureteral refluxOpen Targets
0.16Weak
colorectal cancerOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
hyperuricemiaOpen Targets
0.04Suggestive
goutOpen Targets
0.04Suggestive
total hip arthroplastyOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
circadian rhythmOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.03Suggestive
adverse effectOpen Targets
0.03Suggestive
response to stimulusOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
frozen shoulderOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACAA1Protein interaction96%ACAT1Protein interaction96%ACAT2Protein interaction96%BDH1Protein interaction96%HADHBProtein interaction96%HMGCS1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Heart
84%
Lung
20%
Liver
14%
Ovary
6%
Bone Marrow
2%
Gene Interaction Network
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HMGCLL1ACAA1ACAT1ACAT2BDH1HADHBHMGCS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95896
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.60–1.29]
RankingsWhere HMGCLL1 stands among ~20K protein-coding genes
  • #15,283of 20,598
    Most Researched16
  • #13,631of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedHMGCLL1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Transcriptional landscape of human cancers.
PMID: 28427185
Oncotarget · 2017
1.00
2
Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.
PMID: 22865860
J Biol Chem · 2012
0.86
3
HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia.
PMID: 30555164
Leukemia · 2019
0.71
4
An integrated pathological research for precise diagnosis of schizophrenia combining LC-MS/
PMID: 34863699
Clin Chim Acta · 2022
0.57
5
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
PMID: 31817290
Int J Mol Sci · 2019
0.43