InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HMGCL

Summary

InnateDB Gene

IDBG-94034.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HMGCL

Gene Name

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000117305

Encoded Proteins

IDBP-94036

3-hydroxymethyl-3-methylglutaryl-CoA lyase

IDBP-94038

3-hydroxymethyl-3-methylglutaryl-CoA lyase

IDBP-94040

3-hydroxymethyl-3-methylglutaryl-CoA lyase

IDBP-375141

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:23801885-23838620

Strand

Reverse strand

Band

p36.11

Transcripts

ENST00000374490	ENSP00000363614
ENST00000235958	ENSP00000235958
ENST00000374487	ENSP00000363611
ENST00000436439	ENSP00000389281
ENST00000509389
ENST00000496907
ENST00000513148
ENST00000479458
ENST00000498698

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000062	fatty-acyl-CoA binding
GO:0000287	magnesium ion binding
GO:0003824	catalytic activity
GO:0004419	hydroxymethylglutaryl-CoA lyase activity
GO:0005102	receptor binding
GO:0030145	manganese ion binding
GO:0031406	carboxylic acid binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

Biological Process

GO:0001889	liver development
GO:0006552	leucine catabolic process
GO:0006637	acyl-CoA metabolic process
GO:0007005	mitochondrion organization
GO:0007584	response to nutrient
GO:0042594	response to starvation
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0046950	cellular ketone body metabolic process
GO:0046951	ketone body biosynthetic process
GO:0051262	protein tetramerization
GO:0070542	response to fatty acid

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005759	mitochondrial matrix
GO:0005777	peroxisome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028672

View Gene Order

ENSBTAG00000021832

Not yet available

Pathways

NETPATH

REACTOME

REACT_1464

Synthesis of Ketone Bodies pathway

REACT_22279

Fatty acid, triacylglycerol, and ketone body metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_1861

Ketone body metabolism pathway

REACT_111217

Metabolism pathway

KEGG

hsa00280

Valine, leucine and isoleucine degradation pathway

hsa00650

Butanoate metabolism pathway

hsa00072

Synthesis and degradation of ketone bodies pathway

hsa04146

Peroxisome pathway

INOH

INOH website

Butanoate metabolism pathway

INOH website

Pyruvate metabolism pathway

INOH website

Valine Leucine Isoleucine degradation pathway

PID NCI

Cross-References

SwissProt

P35914

TrEMBL

UniProt Splice Variant

Entrez Gene

3155

UniGene

Hs.533444 Hs.603409 Hs.733861

RefSeq

NM_001166059 NM_000191

HUGO

HGNC:5005

OMIM

613898

CCDS

CCDS53279 CCDS243

HPRD

02003

IMGT

EMBL

AH003700 AK300733 AK313869 AL031295 AL590728 BC010570 BT009792 CH471134 CR456884 FJ472654 GU433941 L07033

GenPept

AAA92733 AAB19099 AAH10570 AAP88794 ACK58684 ADD21697 BAG36597 BAG62406 CAG33165 EAW95094

RNA Seq Atlas

3155