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HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase [ Homo sapiens (human) ]

Gene ID: 3155, updated on 11-Sep-2014
Official Symbol
HMGCLprovided by HGNC
Official Full Name
3-hydroxymethyl-3-methylglutaryl-CoA lyaseprovided by HGNC
Primary source
HGNC:HGNC:5005
See related
Ensembl:ENSG00000117305; HPRD:02003; MIM:613898; Vega:OTTHUMG00000002963
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HL
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]
See HMGCL in Epigenomics, MapViewer
Location:
1p36.1-p35
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (23801877..23825459, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24128367..24165110, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lysophospholipase II Neighboring gene UDP-galactose-4-epimerase Neighboring gene fucosidase, alpha-L- 1, tissue Neighboring gene cannabinoid receptor 2 (macrophage) Neighboring gene BTB (POZ) domain containing 6 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: GALE

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxylic acid binding IEA
Inferred from Electronic Annotation
more info
 
fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
hydroxymethylglutaryl-CoA lyase activity IDA
Inferred from Direct Assay
more info
 
hydroxymethylglutaryl-CoA lyase activity TAS
Traceable Author Statement
more info
 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
acyl-CoA metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular ketone body metabolic process TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
ketone body biosynthetic process IDA
Inferred from Direct Assay
more info
 
ketone body biosynthetic process TAS
Traceable Author Statement
more info
 
leucine catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
protein tetramerization IDA
Inferred from Direct Assay
more info
PubMed 
response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
hydroxymethylglutaryl-CoA lyase, mitochondrial
Names
hydroxymethylglutaryl-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
NP_000182.2
NP_001159531.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013061.1 

    Range
    5001..28583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000191.2NP_000182.2  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor

    See proteins identical to NP_000182.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI202943, AL031295, AL590728
    Consensus CDS
    CCDS243.1
    UniProtKB/Swiss-Prot
    P35914
    Related
    ENSP00000363614, OTTHUMP00000003005, ENST00000374490, OTTHUMT00000008253
    Conserved Domains (2) summary
    cd07938
    Location:35308
    Blast Score: 1301
    DRE_TIM_HMGL; 3-hydroxy-3-methylglutaryl-CoA lyase, catalytic TIM barrel domain
    COG0119
    Location:31313
    Blast Score: 613
    LeuA; Isopropylmalate/homocitrate/citramalate synthases [Amino acid transport and metabolism]
  2. NM_001166059.1NP_001159531.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor

    See proteins identical to NP_001159531.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant is missing two consecutive in-frame coding exons compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
    Source sequence(s)
    BC010570, BM981610, CA306929, DA425822, L07033
    Consensus CDS
    CCDS53279.1
    UniProtKB/Swiss-Prot
    P35914
    Related
    ENSP00000389281, OTTHUMP00000223529, ENST00000436439, OTTHUMT00000372570
    Conserved Domains (1) summary
    cd07938
    Location:35237
    Blast Score: 922
    DRE_TIM_HMGL; 3-hydroxy-3-methylglutaryl-CoA lyase, catalytic TIM barrel domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    23801877..23825459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    22379944..22403530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    24241156..24264719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)