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Tbio
HMGCL
Hydroxymethylglutaryl-CoA lyase, mitochondrial

Protein Summary
Description
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. 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 Accession IDs
Gene Name
Ensembl ID
  • ENST00000374490
  • ENSP00000363614
  • ENSG00000117305
  • ENST00000436439
  • ENSP00000389281

Symbol
  • HL
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.99
histone modification site profile
0.92
molecular function
0.86
kinase perturbation
0.76
cellular component
0.74


Protein Classes
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 40.33   (req: < 5)
Gene RIFs: 21   (req: <= 3)
Antibodies: 312   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 40.33   (req: >= 5)
Gene RIFs: 21   (req: > 3)
Antibodies: 312   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (156)
FPGS
Tchem
Family:  Enzyme
Novelty:  0.0108601
p_int:  0.999956666
p_ni:  0.000043334
Score:  0.313
Data Source:  BioPlex,STRINGDB
HMGCLL1
Tbio
Family:  Enzyme
Novelty:  0.13131046
p_int:  0.999872698
p_ni:  0.000127302
Score:  0.878
Data Source:  BioPlex,STRINGDB
WDYHV1
Tbio
Family:  Enzyme
Novelty:  0.1844203
p_int:  0.979453898
p_ni:  0.020546096
p_wrong:  6e-9
Data Source:  BioPlex
PCCB
Tbio
Family:  Enzyme
Novelty:  0.01085161
p_int:  0.976122253
p_ni:  0.023877698
p_wrong:  4.9e-8
Score:  0.415
Data Source:  BioPlex,STRINGDB
GLS
Tchem
Family:  Enzyme
Novelty:  0.00321692
p_int:  0.974574539
p_ni:  0.025425443
p_wrong:  1.8e-8
Score:  0.163
Data Source:  BioPlex,STRINGDB
ALAS1
Tclin
Family:  Enzyme
Novelty:  0.00965779
p_int:  0.951175743
p_ni:  0.047821142
p_wrong:  0.001003115
Score:  0.38
Data Source:  BioPlex,STRINGDB
ACADVL
Tbio
Family:  Enzyme
Novelty:  0.00383705
p_int:  0.76367504
p_ni:  0.23632496
Score:  0.503
Data Source:  BioPlex,STRINGDB
MGME1
Tbio
Family:  Enzyme
Novelty:  0.05284418
p_int:  0.755037202
p_ni:  0.244962798
Score:  0.211
Data Source:  BioPlex,STRINGDB
HMGCS2
Tbio
Family:  Enzyme
Novelty:  0.0103808
Score:  0.972
Data Source:  STRINGDB
OXCT1
Tbio
Family:  Enzyme
Novelty:  0.00283394
Score:  0.97
Data Source:  STRINGDB
Pathways (21)
Ketone body metabolism (R-HSA-74182)

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Find Similar Targets
Items per page:
1 – 5 of 6
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Ketone body metabolism
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Peroxisomal protein import
Reactome
Protein localization
Name
Explore in Pharos
Explore in Source
Ketone body metabolism
Metabolism
Metabolism of lipids
Peroxisomal protein import
Protein localization
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (24)
Find Similar Targets
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
Ensembl
Disease Associations ()
No disease associations found
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
6
4
6
92.4
eosinophil count
3
3
3
91.9
reticulocyte measurement
3
2
3
90.5
eosinophil percentage of leukocytes
2
2
2
85.5
lymphocyte count
1
1
1
59
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
6
92.4
eosinophil count
3
91.9
reticulocyte measurement
3
90.5
eosinophil percentage of leukocytes
2
85.5
lymphocyte count
1
59
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
3-hydroxymethyl-3-methylglutaryl-CoA lyase
VGNC:1261
456624
Macaque
3-hydroxymethyl-3-methylglutaryl-CoA lyase
710833
Mouse
MGI:96158
15356
Rat
RGD:620554
79238
Dog
3-hydroxymethyl-3-methylglutaryl-CoA lyase
VGNC:41712
100855521
Species
Name
OMA
EggNOG
Inparanoid
Chimp
3-hydroxymethyl-3-methylglutaryl-CoA lyase
Macaque
3-hydroxymethyl-3-methylglutaryl-CoA lyase
Mouse
Rat
Dog
3-hydroxymethyl-3-methylglutaryl-CoA lyase
Publication Statistics
PubMed Score 40.33
PubMed score by year
PubTator Score 91.78
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title