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Tbio
HMGCL
Hydroxymethylglutaryl-CoA lyase, mitochondrial

Protein Classes
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


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: 37.85   (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: 37.85   (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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
3
2
3
36.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
3
36.2
Protein Data Bank (4)
1 – 4 of 4
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (21)
Ketone body metabolism (R-HSA-74182)

Click on a row in the table to change the structure displayed.

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
Gene Ontology Terms (24)
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
Protein-Protein Interactions (156)
1 – 10 of 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
Publication Statistics
PubMed Score  37.85

PubMed score by year
PubTator Score  91.78

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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