Homo sapiens Protein: HMGCS2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-591250.3 | ||||||||||||||||||
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 | ENSP00000439495 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF01154
PF08540 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P54868 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P54868 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 3158 | ||||||||||||||||||
UniGene | Hs.59889 | ||||||||||||||||||
RefSeq | NP_001159579 | ||||||||||||||||||
HUGO | HGNC:5008 | ||||||||||||||||||
OMIM | 600234 | ||||||||||||||||||
CCDS | CCDS53353 | ||||||||||||||||||
HPRD | 02580 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AK303777 AL589734 BC044217 CH471122 CR456850 GU433940 U12788 U12789 U81851 U81852 U81853 U81854 U81855 U81856 U81857 U81858 U81859 X83618 | ||||||||||||||||||
GenPept | AAA92673 AAA92674 AAB72036 AAH44217 ADD21696 BAH14049 CAA58593 CAG33131 CAI22408 EAW56709 | ||||||||||||||||||