MGP Database

MGP001465

Record overview

MGPD ID	MGP001465
Gene ID	3155
Species	Homo sapiens (Human)
Gene Name	3-hydroxymethyl-3-methylglutaryl-CoA lyase
Gene Symbol	HMGCL
Synonyms	HL;
Alternate names	hydroxymethylglutaryl-CoA lyase, mitochondrial; 3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HMG-CoA lyase; hydroxymethylglutaricaciduria; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase;
Chromosome	1
Map Location	1p36.1-p35
EC Number	4.1.3.4
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]
Orthologs	View 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:

`MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIDMLSEAGLSVIETTSFVSPKWVPQMGDHTEVLKGIQKFPG INYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSANISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEI SLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLL EAGNFICQALNRKTSSKVAQATCKL`

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

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:

`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