InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HMGCS2

Summary

InnateDB Protein

IDBP-101529.6

Last Modified

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

Gene Symbol

HMGCS2

Protein Name

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000358414

InnateDB Gene

IDBG-101527 (HMGCS2)

Protein Structure

UniProt Annotation

Function

This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.

Subcellular Localization

Mitochondrion.

Disease Associations

HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]: Affected individuals present with severe hypoketotic hypoglycemia, mild hepatomegaly, or fatty liver, and a nondiagnostic pattern of urinary organic acids with increase of medium and short chain dicarboxylic acids. {ECO:0000269PubMed:11228257, ECO:0000269PubMed:11479731, ECO:0000269PubMed:12647205}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle. Not detected in brain. The relative expression of isoform 3 (at mRNA level) is highest in heart (70%) and skeletal muscle (60%). {ECO:0000269PubMed:16940161, ECO:0000269PubMed:21952825, ECO:0000269PubMed:7893153}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004421	hydroxymethylglutaryl-CoA synthase activity

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0008152	metabolic process
GO:0008299	isoprenoid biosynthetic process
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

Cellular Component

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

Protein Structure and Domains

PDB ID

InterPro

IPR010122 Hydroxymethylglutaryl-CoA synthase, eukaryotic
IPR013528 Hydroxymethylglutaryl-coenzyme A synthase, N-terminal
IPR013746 Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain
IPR016039 Thiolase-like

PFAM

PF01154
PF08540

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P54868

PhosphoSite