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HMGCL

CANCER ATLAS

Gene description

 3-hydroxymethyl-3-methylglutaryl-CoA lyase

Protein class

 Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA004727

GENE INFORMATION

Gene name

 HMGCL (HGNC Symbol)

Synonyms

 HL

Description

 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HGNC Symbol)

Entrez gene 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]

Chromosome

 1

Cytoband

 p36.11

Chromosome location (bp)

 23801885 - 23838620

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000117305 (version 83.38)

Entrez gene

 3155

UniProt

 P35914 (UniProt - Evidence at protein level)

neXtProt

 NX_P35914

Antibodypedia

 HMGCL antibodies

PROTEIN BROWSER
HMGCL-002
HMGCL-007
HMGCL-010

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HMGCL-002
ENSP00000363614
ENST00000374490
P35914 [Direct mapping]
Hydroxymethylglutaryl-CoA lyase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000062 [fatty-acyl-CoA binding]
GO:0000287 [magnesium ion binding]
GO:0001889 [liver development]
GO:0003824 [catalytic activity]
GO:0004419 [hydroxymethylglutaryl-CoA lyase activity]
GO:0005102 [receptor binding]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0005777 [peroxisome]
GO:0006552 [leucine catabolic process]
GO:0006637 [acyl-CoA metabolic process]
GO:0007005 [mitochondrion organization]
GO:0007584 [response to nutrient]
GO:0030145 [manganese ion binding]
GO:0031406 [carboxylic acid binding]
GO:0042594 [response to starvation]
GO:0042803 [protein homodimerization activity]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0051262 [protein tetramerization]
GO:0070542 [response to fatty acid]
Show all
 325 aa
34.4 kDa 		Yes 0
HMGCL-007
ENSP00000389281
ENST00000436439
P35914 [Direct mapping]
Hydroxymethylglutaryl-CoA lyase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287 [magnesium ion binding]
GO:0003824 [catalytic activity]
GO:0004419 [hydroxymethylglutaryl-CoA lyase activity]
GO:0005102 [receptor binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005777 [peroxisome]
GO:0006552 [leucine catabolic process]
GO:0030145 [manganese ion binding]
GO:0042803 [protein homodimerization activity]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0051262 [protein tetramerization]
Show all
 254 aa
26.9 kDa 		Yes 0
HMGCL-010
ENSP00000235958
ENST00000235958
H0Y2L7 [Direct mapping]
Hydroxymethylglutaryl-CoA lyase, mitochondrial
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004419 [hydroxymethylglutaryl-CoA lyase activity]
GO:0005739 [mitochondrion]
GO:0046951 [ketone body biosynthetic process]
Show all
 182 aa
19 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.