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

Gene ID: 3155, updated on 13-Feb-2019

Summary

Official Symbol
HMGCLprovided by HGNC
Official Full Name
3-hydroxy-3-methylglutaryl-CoA lyaseprovided by HGNC
Primary source
HGNC:HGNC:5005
See related
Ensembl:ENSG00000117305 MIM:613898
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]
Expression
Ubiquitous expression in liver (RPKM 67.1), kidney (RPKM 50.9) and 24 other tissues See more
Orthologs

Genomic context

See HMGCL in Genome Data Viewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC105376860 Neighboring gene lysophospholipase 2 Neighboring gene UDP-galactose-4-epimerase Neighboring gene uncharacterized LOC105376861 Neighboring gene alpha-L-fucosidase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydroxymethylglutaryl-CoA lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acyl-CoA metabolic process IEA
Inferred from Electronic Annotation
more info
 
ketone body biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ketone body biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
ketone body biosynthetic process TAS
Traceable Author Statement
more info
 
leucine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leucine catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
leucine catabolic process TAS
Traceable Author Statement
more info
PubMed 
lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
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
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hydroxymethylglutaryl-CoA lyase, mitochondrial
Names
3-hydroxy-3-methylglutarate-CoA lyase
3-hydroxymethyl-3-methylglutaryl-CoA lyase
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
HMG-CoA lyase
hydroxymethylglutaricaciduria
mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
NP_000182.2
NP_001159531.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000191.3NP_000182.2  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000363614.3, ENST00000374490.7
    Conserved Domains (1) summary
    cd07938
    Location:35308
    DRE_TIM_HMGL; 3-hydroxy-3-methylglutaryl-CoA lyase, catalytic TIM barrel domain
  2. NM_001166059.1NP_001159531.1  hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000389281.2, ENST00000436439.6
    Conserved Domains (2) summary
    PLN02746
    Location:17254
    PLN02746; hydroxymethylglutaryl-CoA lyase
    pfam00682
    Location:32235
    HMGL-like; HMGL-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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