LMPD Database

LMP002403

Record overview

LMPD IDLMP002403
Gene ID3155
SpeciesHomo sapiens (Human)
Gene Name3-hydroxymethyl-3-methylglutaryl-CoA lyase
Gene SymbolHMGCL
SynonymsHL
Alternate nameshydroxymethylglutaryl-CoA lyase, mitochondrial; HMG-CoA lyase; hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
Chromosome1
Map Location1p36.1-p35
EC Number4.1.3.4
SummaryThe 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]
OrthologsView orthologs and multiple alignments for HMGCL

Proteins

hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor
Refseq ID:NP_000182
Protein GI:62198232
UniProt ID:P35914
mRNA ID:NM_000191
Length:325
RefSeq Status:REVIEWED
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPG
INYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEI
SLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLL
EAGNFICQALNRKTSSKVAQATCKL
 
hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor
Refseq ID:NP_001159531
Protein GI:260654708
UniProt ID:P35914
mRNA ID:NM_001166059
Length:254
RefSeq Status:REVIEWED
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPG
INYPVLTPNLKGFEAAVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQG
ASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL
 
transit_peptide: 1..27
calculated_mol_wt: 2831
peptide sequence: 
MAAMRKALPRRLVGLASLRAVSTSSMG

mat_peptide: 28..325
product: hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1
calculated_mol_wt: 31547
peptide sequence: 
TLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIF
GAASELFTKKNINCSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPL
AALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQATCKL transit_peptide: 1..27 calculated_mol_wt: 2831 peptide sequence: MAAMRKALPRRLVGLASLRAVSTSSMG mat_peptide: 28..254 product: hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 calculated_mol_wt: 24096 peptide sequence: TLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVTKKFYSMGCY
EISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQK
LLEAGNFICQALNRKTSSKVAQATCKL